Abnormality of prenatal development or birth
Abnormality of the cardiovascular system
Abnormality of blood and blood-forming tissues
Abnormality of nervous system physiology
Abnormality of nervous system morphology
Abnormality of the hypothalamus-pituitary axis
Abnormalities of placenta or umbilical cord
Abnormality of the musculature of the pelvis
Abnormality of circulating hormone level
Muscle abnormality related to mitochondrial dysfunction
Abnormality of carboxylic acid metabolism
Abnormality of nitrogen compound homeostasis
Abnormality of bone marrow cell morphology
Abnormality of the musculature of the limbs
Abnormality of the musculature of the thorax
Abnormality of the heme biosynthetic pathway
Abnormality of circulating protein level
Abnormality of the fetal cardiovascular system
Abnormality of the abdominal musculature
Abnormality of the musculature of the neck
Abnormality of cardiovascular system physiology
Abnormality of endocrine pancreas physiology
Abnormality of reproductive system physiology
Increased adipose tissue around the neck
Abnormal peripheral nervous system morphology
Abnormality of the musculature of the lower limbs
Abnormality of the hip-girdle musculature
Abnormality of the musculature of the upper limbs
Aplasia/Hypoplasia of the musculature of the pelvis
Hoarse voice (caused by tumor impingement)
Morphological abnormality of the central nervous system
Abnormality of the upper respiratory tract
Abnormality of the autonomic nervous system
Malformation of the heart and great vessels
Leydig cell insensitivity to gonadotropin
Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency
Elevated circulating parathyroid hormone (PTH) level
Intracellular accumulation of autofluorescent lipopigment storage material
Increased cellular sensitivity to UV light
Focal necrosis of right ventricular muscle cells
High urinary gonadotropins (primary hypogonadism)
Subsarcolemmal accumulations of abnormally shaped mitochondria
Reduced activity of N-acetylglucosaminyltransferase II
Decreased activity of cytochrome C oxidase in muscle tissue
Generalized muscular appearance from birth
Abnormality of upper limb epiphysis morphology
Abnormality of alkaline phosphatase activity
Abnormality of the pulmonary vasculature
Premature birth following premature rupture of fetal membranes
Premature delivery because of cervical insufficiency or membrane fragility
Abnormality of the kinin-kallikrein system
Aplasia/hypoplasia involving bones of the upper limbs
Abnormality of lower limb epiphysis morphology
Abnormality of the vasculature of the eye
Absence of secondary sex characteristics
Morphological abnormality of the middle ear
Aplasia/Hypoplasia involving the musculature of the extremities
Osteolysis involving bones of the lower limbs
Depletion of mitochondrial DNA in muscle tissue
Duplication of bones involving the upper extremities
Abnormal calcification of the carpal bones
Abnormality of serine family amino acid metabolism
Abnormality of ductus venosus blood flow
Abnormality of umbilical vein blood flow
Absence of stomach bubble on fetal sonography
Abnormality of dicarboxylic acid metabolism
Abnormality of monocarboxylic acid metabolism
Abnormality of the systemic arterial tree
Abnormality of the gastrointestinal tract
Abnormality of circulating adrenocorticotropin level
Abnormality of immune serum protein physiology
Increased sensitivity to ionizing radiation
Abnormality of the urinary system physiology
Morphological abnormality of the inner ear
Functional abnormality of the middle ear
Abnormality of the parathyroid morphology
Abnormality of the parathyroid physiology
Abnormality of circulating catecholamine level
Abnormality of circulating glucocorticoid level
Abnormality of bone marrow stromal cells
Abnormality of cells of the erythroid lineage
Abnormality of cells of the granulocytic lineage
Abnormality of cells of the lymphoid lineage
Abnormality of cells of the megakaryocyte lineage
Abnormality of cells of the monocyte/macrophage lineage
Abnormality of multiple cell lineages in the bone marrow
Abnormal respiratory motile cilium physiology
Abnormal brain positron emission tomography
Excessive bleeding from superficial cuts
Abnormal serum insulin-like growth factor 1 level
Abnormal autonomic nervous system morphology
Abnormal autonomic nervous system physiology
Delayed self-feeding during toddler years
Abnormal surface-connected open canalicular system
Abnormality of the suspensory ligament of lens
Abnormal brain FDG positron emission tomography
Regional left ventricular wall motion abnormality
Reduced brain N-acetyl aspartate level by MRS
Abnormal brain choline/creatine ratio by MRS
Morphological abnormality of the gastrointestinal tract
Functional abnormality of the gastrointestinal tract
Abnormal male reproductive system physiology
EMG: Repetitive nerve stimulation abnormality
Abnormal female reproductive system physiology
Abnormal muscle fiber protein expression
Abnormality of peripheral nervous system electrophysiology
Abnormality of central nervous system electrophysiology
Abnormal peripheral nervous system synaptic transmission
Calcification of the interosseus membrane of the forearm
Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}
Abnormal circulating luteinizing hormone level
Abnormal circulating follicle-stimulating hormone level
Decreased serum insulin-like growth factor 1
Abnormal morphology of bones of the upper limbs
Abnormal morphology of bones of the lower limbs
Abnormal levels of creatine kinase in blood
Congenital malformation of the left heart
Neoplasm of the peripheral nervous system
Abnormality of dorsoventral patterning of the limbs
EMG: continuous motor unit activity at rest
Abnormality of the vitamin B3 metabolism
Respiratory insufficiency due to defective ciliary clearance
Inflexible adherence to routines or rituals
Dermatological manifestations of systemic disorders
Hepatic abscesses due to immunodeficiency
Abnormality of the musculature of the hand
Abnormality of the shoulder girdle musculature
Abnormality of the musculature of the thigh
Abnormality of the musculature of the upper arm
Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the musculature of the upper limbs
Congenital fibrosis of extraocular muscles
Rhythm disturbances associated with pheochromocytoma
Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet)
Morphological abnormality of the pyramidal tract
Abnormality of extrapyramidal motor function
Diffuse reticular or finely nodular infiltrations
Primitive reflexes (palmomental, snout, glabellar)
Arteriovenous fistulas of celiac and mesenteric vessels
Abnormality of pelvic girdle bone morphology
Aplasia/Hypoplasia involving the central nervous system
Bowing of limbs due to multiple fractures
Defective DNA repair after ultraviolet radiation damage
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material
Deficient excision of UV-induced pyrimidine dimers in DNA
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Reduced orotidine 5-prime phosphate decarboxylase activity
Endopolyploidy on chromosome studies of bone marrow
Increased rate of premature chromosome condensation
Defective dehydrogenation of isovaleryl CoA and butyryl CoA
Birth length greater than 97th percentile
Granular osmiophilic deposits (GROD) in cells
Centrally nucleated skeletal muscle fibers
Deposits immunoreactive to beta-amyloid protein
Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
Abnormality of the anterior segment of the eye
Abnormality of the posterior segment of the eye
Abnormality of aromatic amino acid family metabolism
Abnormality of sulfur amino acid metabolism
Abnormality of the vitamin B12 metabolism
Exostosis of the external auditory canal
Recurrent infection of the gastrointestinal tract
Arteriosclerosis of small cerebral arteries
Osteomyelitis leading to amputation due to slow healing fractures
Calcification of the auricular cartilage
Abnormalities of the peripheral arteries
Unilateral absence of pectoralis major muscle
Recurrent infections in infancy and early childhood
Abnormality of the tracheobronchial system
Abnormalities of the metaphyses of the hand
Abnormality of the epiphyses of the hand
Abnormalities of the diaphyses of the hand
Abnormalities of the cortex of hand bones
Aplasia/hypoplasia involving bones of the hand
Abnormal respiratory motile cilium morphology
Restricted neck movement due to contractures
Prolonged bleeding after dental extraction
Aplasia/hypoplasia involving bones of the lower limbs
Aplasia/Hypoplasia involving bones of the feet
Decreased mitochondrial complex III activity in liver tissue
Mixed demyelinating and axonal polyneuropathy
Atrophy/Degeneration affecting the central nervous system
Abnormality of the vasculature of the conjunctiva
Thyroid defect in oxidation and organification of iodide
Contractures involving the joints of the feet
Recurrent loss of toenails and fingernails
Pubertal developmental failure in females
Failure to thrive secondary to recurrent infections
Muscle hypertrophy of the lower extremities
Increased subcutaneous truncal adipose tissue
Aplasia/hypoplasia affecting bones of the axial skeleton
Synostosis involving bones of the lower limbs
Supernumerary bones of the axial skeleton
Deviation of the hand or of fingers of the hand
Pyramidal skinfold extending from the base to the top of the nails
Aplasia/Hypoplasia of the abdominal wall musculature
Abnormality of branched chain family amino acid metabolism
Abnormality of aspartate family amino acid metabolism
Abnormality of glutamine family amino acid metabolism
Abnormality of pyruvate family amino acid metabolism
Abnormality of divalent inorganic cation homeostasis
Abnormality of monovalent inorganic cation homeostasis
Abnormality of long-chain fatty-acid metabolism
Abnormality of fatty-acid anion metabolism
Abnormality of the level of lipoprotein cholesterol
Abnormality of the common coagulation pathway
Increased susceptibility to spontaneous sister chromatid exchange
Abnormality of blood glucose concentration
Abnormality of urine glucose concentration
Abnormality of unsaturated fatty acid metabolism
Abnormality of transition element cation homeostasis
Morphological abnormality of the vestibule of the inner ear
Abnormality of the internal auditory canal
Morphological abnormality of the nerves of the inner ear
High maternal serum chorionic gonadotropin
Low maternal serum chorionic gonadotropin
Abnormal spatial orientation of the cardiac segments
Abnormal connection of the cardiac segments
Congenital malformation of the great arteries
Interrupted inferior vena cava with azygous continuation
Abnormal electrophysiology of sinoatrial node origin
Congenital malformation of the right heart
Abnormality of circulating cortisol level
Increased serum free triiodothyronine (fT3)
Thyroid-stimulating hormone receptor (TSHR) defect
Abnormal bone collagen fibril morphology
Abnormal platelet membrane protein expression
Nodular regenerative hyperplasia of liver
Unilateral hypoplasia of pectoralis major muscle
Urinary excretion of sialylated oligosaccharides
Abnormality of skeletal muscle fiber size
Abnormality of circulating corticosterone level
Abnormal number of granulocyte precursors
Abnormality of female internal genitalia
Functional abnormality of male internal genitalia
Abnormality of female external genitalia
Globe retraction and deviation on abduction
Reduced amplitude of pattern visual evoked potentials
Skin dimple over apex of long bone angulation
Atypical nevi (>5mm with irregular edge and pigmentation)
Ulnar deviation of the hand or of fingers of the hand
Acral ulceration and osteomyelitis leading to autoamputation of digits
Aplasia/Hypoplasia involving the shoulder musculature
Amyotrophy involving the shoulder musculature
Aplasia/Hypoplasia involving the musculature of the upper arm
Increased prevalence of valvular disease
Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
Reduced lymphocyte surface expression of CD43 (sialophorin)
Melanin pigment aggregation in hair shafts
Focal seizures without impairment of consciousness or awareness
Focal seizures with impairment of consciousness or awareness
Calcification of the small brain vessels
Paresis of extensor muscles of the big toe
Respiratory insufficiency due to muscle weakness
Apneic episodes precipitated by illness, fatigue, stress
Decreased activity of the pyruvate dehydrogenase (PDH) complex
Absent microvilli on the surface of peripheral blood lymphocytes
Subperiosteal erosions due to secondary hyperparathyroidism
Abnormality of the spinocerebellar tracts
Abnormality of peripheral nerve conduction
Chromosomal breakage induced by crosslinking agents
Mitochondrial propionyl-CoA carboxylase (PCC) defect
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
Impaired lymphocyte transformation with phytohemagglutinin
Abnormality of the femoral neck or head region
Decreased number of peripheral myelinated nerve fibers
Abnormal synaptic transmission at the neuromuscular junction
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
Low urinary cyclic AMP response to PTH administration
Paradoxical increased cortisol secretion on dexamethasone suppression test
Deficiency or absence of cytochrome b(-245)
Parathormone-independent increased renal tubular calcium reabsorption
Increased serum iduronate sulfatase activity
Increased variability in muscle fiber diameter
Premature separation of centromeric heterochromatin
Loss of subcutaneous adipose tissue in limbs
Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Amyotrophy of the musculature of the pelvis
Type 1 fibers relatively smaller than type 2 fibers
Percussion-induced rapid rolling muscle contractions (PIRC)
Type 1 and type 2 muscle fiber minicore regions
Cortical thickening of the forearm bones
Dysharmonic maturation of the hand bones
Respiratory failure requiring assisted ventilation
Extracranial internal carotid artery dissection
Erlenmeyer flask deformity of the femurs
Aplasia of the abdominal wall musculature
Hypoplasia of the abdominal wall musculature
Intimal thickening in the coronary arteries
Anomalous branches of internal carotid artery
Abnormality of the alternate complement pathway
Avascular necrosis of the capital femoral epiphysis
Mixed respiratory and metabolic acidosis
Acral ulceration leading to autoamputation of digits
Decreased movement range in interphalangeal joints
Disproportionate prominence of the femoral medial condyle
Periosteal thickening of long tubular bones
Abnormality of limb epiphysis morphology
Chronic obstructive airway disease from birth
Malformation of the hepatic ductal plate
Progressive calcification of costochondral cartilage
Abnormality of the atrioventricular valves
Aplasia/Hypoplasia involving bones of the thorax
Developmental stagnation at onset of seizures
Sensorimotor polyneuropathy affecting arms more than legs
Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
Abnormal aggressive, impulsive or violent behavior
Chaotic rapid conjugate ocular movements
Dysfunction of lateral corticospinal tracts
Atrophy/Degeneration involving the spinal cord
Aplasia/Hypoplasia of the pyramidal tract
Aplasia/Hypoplasia involving the corticospinal tracts
Atrophy/Degeneration involving the corticospinal tracts
Abnormality of somatosensory evoked potentials
Intermittent generalized erythematous papular rash
Yellow subcutaneous tissue covered by thin, scaly skin
Abnormal subcutaneous fat tissue distribution
Skin fragility with non-scarring blistering
Aplasia/Hypoplastia of the eccrine sweat glands
Impaired pursuit initiation and maintenance
Aplasia/Hypoplasia affecting the anterior segment of the eye
Abnormality of the fifth metatarsal bone
Expanded metatarsals with widened medullary cavities
Elevated serum transaminases during infections
Precocious puberty with Sertoli cell tumor
Abnormal iron deposition in mitochondria
Spinal cord posterior columns myelin loss
Elevated plasma branched chain amino acids
Aplasia/Hypoplasia involving the vertebral column
Slit-like opening of the exterior auditory meatus
Adult onset sensorineural hearing impairment
Self-mutilation of tongue and lips due to involuntary movements
Loss of truncal subcutaneous adipose tissue
Loss of gluteal subcutaneous adipose tissue
Aplasia/Hypoplasia involving bones of the skull
Radial deviation of the hand or of fingers of the hand
Abnormality of the vestibulocochlear nerve
Aplasia/Hypoplasia of the musculature of the thigh
Aplasia involving bones of the extremities
Cerebellar ataxia associated with quadrupedal gait
Abnormality of the first metatarsal bone
Abnormality of the greater sacrosciatic notch
Weakness due to upper motor neuron dysfunction
Abnormality of the cortex of the humerus
Patchy reduction of bone mineral density
Abnormality of the third metatarsal bone
Abnormality of the curvature of the vertebral column
Elevated tissue non-specific alkaline phosphatase
Low tissue non-specific alkaline phosphatase
Abnormality of the eleventh cranial nerve
Abnormality of the twelfth cranial nerve
Abnormality of the seventh cranial nerve
Congenital cystic adenomatoid malformation of the lung
Chromosomal breakage induced by ionizing radiation
Defective production of NFKB1-dependent cytokines
Abnormality of tumor necrosis factor secretion
Abnormality of inferior crus of antihelix
Abnormality of superior crus of antihelix
Abnormality of urine bicarbonate concentration
Abnormality of urine catecholamine concentration
Hypoplasia of the vestibule of the inner ear
Morphological abnormality of the semicircular canal
Abnormality of the dorsal column of the spinal cord
Childhood onset sensorineural hearing impairment
Congenitally corrected transposition of the great arteries
Superior-inferior ventricles without criss-cross atrioventricular valves
Pulmonary situs ambiguus with bilateral morphologic right lungs
Pulmonary situs ambiguus with bilateral morphologic left lungs
Abnormal origin of the coronary arteries
Bilateral superior vena cava with bridging vein
Bilateral superior vena cava with no bridging vein
Left superior vena cava draining directly to the left atrium
Left superior vena cava draining to coronary sinus
Thyrotoxicosis from ectopic thyroid tissue
Thyrotoxicosis with toxic multinodular goitre
Thyrotoxicosis with toxic single thyroid nodule
Activating thyroid-stimulating hormone receptor (TSHR) defect
Inactivating thyroid-stimulating hormone receptor (TSHR) defect
Abnormal activity of mitochondrial respiratory chain
Abnormality of exocrine pancreas physiology
Reduced quantity of Von Willebrand factor
Dynein arm defect of respiratory motile cilia
Abnormal axonemal organization of respiratory motile cilia
Abnormal central microtubular pair morphology of respiratory motile cilia
Absent central microtubular pair morphology of respiratory motile cilia
Absent respiratory ciliary axoneme radial spokes
Increased carotid artery intimal medial thickness
Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration
Abnormality of urinary uric acid concentration
Abnormal muscle fiber merosin expression
Abnormal muscle fiber dystrophin expression
Abnormal muscle fiber alpha dystroglycan
Impaired ristocetin cofactor assay activity
Impaired von Willibrand factor collagen binding activity
Abnormal von Willebrand Factor multimer distribution
Enhanced ristocetin cofactor assay activity
Response to drugs acting on neuromuscular transmission
EMG: incremental response of compound muscle action potential to repetitive nerve stimulation
Muscle specific kinase antibody positivity
Abnormal muscle fiber valosin-containing protein
Decreased circulating follicle stimulating hormone level
Decreased circulating luteinizing hormone level
Abnormal platelet dense granule secretion
Abnormal platelet alpha granule secretion
Abnormality of the second metatarsal bone
Abnormality of the fourth metatarsal bone
Cutaneous atresia of the external auditory canal
Osseous atresia of the external auditory canal
Cutaneous stenosis of the external auditory canal
Osseous stenosis of the external auditory canal
Abnormality of the reflex of the tensor tympanii muscle
Synostosis involving bones of the upper limbs
Abnormality of the medullary cavity of the long bones
Abnormality of pattern reversal visual evoked potentials
Muscle fiber cytoplasmatic inclusion bodies
Muscle fiber intranuclear inclusion bodies
Joint contractures involving the joints of the feet
Benign neoplasm of the central nervous system
Malignant neoplasm of the central nervous system
Long chain 3 hydroxyacyl coA dehydrogenase deficiency
Abnormal liver function tests during pregnancy
Increased serum bile acid concentration during pregnancy
Entrapment neuropathy of the ulnar nerve at elbow
Entrapment neuropathy of suprascapular nerve
Coarctation of the descending aortic arch
Decreased galactosylation of N-linked protein glycosylation
Abnormal sialylation of N-linked protein glycosylation
Abnormal fucosylation of protein N-linked glycosylation
Abnormal mannosylation of N-linked protein glycosylation
Abnormal fucosylation of O-linked protein glycosylation
Abnormal sialylation of O-linked protein glycosylation
Abnormality of the brainstem white matter
Tetralogy of Fallot with pulmonary atresia
Abnormal upper-limb motor evoked potentials
Abnormal lower-limb motor evoked potentials
Absence of large von Willibrand factor multimers
Abnormal presence of ultra-large von Willebrand Factor multimers
Total absence von Willebrand Factor multimers
Absence of intermediate von Willibrand factor multimers
Abnormal peripheral action potential amplitude
Impaired visually enhanced vestibulo-ocular reflex
Favorable response of weakness to acetylcholine esterase inhibitors
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
Accumulation of muscle fiber valosin-containing protein
Glycogen accumulation in muscle fiber lysosomes
Elevated red cell adenosine deaminase activity
Reduced red cell adenosine deaminase activity
Multinucleated giant chondrocytes in epiphyseal cartilage
Abnormal platelet ATP dense granule secretion
Abnormal platelet dense granule ATP/ADP ratio
Increased activity of mitochondrial respiratory chain
Aplasia/Hypoplasia of the fifth metatarsal bone
Abnormal concentration of calcium in blood
Abnormality of natural killer cell number
Morphological abnormality of the lateral semicircular canal
Morphological abnormality of the posterior semicircular canal
Morphological abnormality of the anterior semicircular canal
Morphological abnormality of the utricle
Morphological abnormality of the saccule
Absence of the reflex of the tensor tympani muscle
Impairment of the reflex of the tensor tympanii muscle
Abnormality of peripheral somatosensory evoked potentials
Abnormality of central somatosensory evoked potentials
Abnormality of the curvature of the cornea
Abnormality of vertebral epiphysis morphology
Chronic hepatitis due to cryptospridium infection
Abnormality of the fontanelles or cranial sutures
Impaired ability to form peer relationships
Insulin-resistant diabetes mellitus at puberty
Elevated imprint of the transverse sinuses
Abnormality of the posterior cranial fossa
Patchy demyelination of subcortical white matter
Parkinsonism with favorable response to dopaminergic medication
Venous varicosities of celiac and mesenteric vessels
Absence of bactericidal oxidative 'respiratory burst' in phagocytes
Recurrent lower respiratory tract infections
Recurrent upper respiratory tract infections
T-wave inversion in the right precordial leads
Abnormal isoelectric focusing of serum transferrin
Gonadal tissue inappropriate for external genitalia or chromosomal sex
Increased circulating very-low-density lipoprotein cholesterol
Decreased number of large peripheral myelinated nerve fibers
Generalized hypotonia due to defect at the neuromuscular junction
Distal sensory impairment of all modalities
Foam cells with lamellar inclusion bodies
Soft-tissue ossification around the shoulders
Abnormality of the joint spaces of the elbow
Irregular articular surfaces of the elbow joints
Abnormality of the epiphyses of the elbow
Irregular ossification of the radial metaphysis
Bone-in-a-bone appearance of carpal bones
Osteoarthritis of the small joints of the hand
Subluxation of metacarpal phalangeal joints
Prolonged brainstem auditory evoked potentials
Large clumps of pigment irregularly distributed along hair shaft
Decreased cervical spine flexion due to contractures of posterior cervical muscles
Abnormality of the renal collecting system
Refractory anemia with ringed sideroblasts
Intermittent episodes of respiratory insufficiency due to muscle weakness
Orthostatic hypotension due to autonomic dysfunction
Dilatation of the descending thoracic aorta
Slender long bones with narrow diaphyses
Abnormal facility in opposing the shoulders
Atrioventricular canal defect with right ventricle aorta and pulmonary atresia
Postural hypotension with compensatory tachycardia
Depletion of components of the alternative complement pathway
Increased bone density with cystic changes
Spinal stenosis with reduced interpedicular distance
Cortical thickening of long bone diaphyses
Calcific stippling of infantile cartilaginous skeleton
Enlarged sagittal diameter of the cervical canal
Delayed pneumatization of the mastoid process
Aplasia/Hypoplasia involving the metacarpal bones
Ventilator dependence with inability to wean
Expanded metacarpals with widened medullary cavities
Abnormality of the pancreatic islet cells
Congenital pseudoarthrosis of the clavicle
Irregular ossification at anterior rib ends
Thickening of the lateral border of the scapula
Ventricular preexcitation with multiple accessory pathways
Early progressive calcific cardiac valvular disease
Polymorphic and polytopic ventricular extrasystoles
Pallor of dorsal columns of the spinal cord
Diffuse demyelination of the cerebral white matter
Generalized tonic-clonic seizures on awakening
Decreased number of small peripheral myelinated nerve fibers
Severe demyelination of the white matter
Absence of subcutaneous fat over entire body except buttocks, hips, and thighs
Neonatal wrinkled skin of hands and feet
Decreased sweating due to autonomic dysfunction
Aplasia cutis congenita on trunk or limbs
Pigmentation anomalies of sun-exposed skin
Amyloid deposition in the vitreous humor
Optic atrophy from cranial nerve compression
Plantar crease between first and second toes
Adrenocorticotropin (ACTH) receptor (ACTHR) defect
Partial functional complement factor D deficiency
Cervical vertebral bodies with decreased anteroposterior diameter
Cleft at the superior portion of the pinna
Gonadal dysgenesis with female appearance, male
Female external genitalia in individual with 46,XY karyotype
Decreased activity of mitochondrial respiratory chain
Loss of subcutaneous adipose tissue from upper limbs
Weakness of long finger extensor muscles
Abnormal ossification involving the femoral head and neck
Aplasia/Hypoplasia involving the femoral head and neck
Osteolytic defects of the phalanges of the 3rd finger
Osteolytic defects of the phalanges of the 2nd finger
Osteolytic defects of the phalanges of the hand
Aplasia involving bones of the lower limbs
Aplasia involving bones of the upper limbs
Abnormality of the epiphysis of the 1st metacarpal
Aplasia/Hypoplasia of the 1st metacarpal
Osteolytic defects of the 1st metacarpal
Aplasia/Hypoplasia of the 2nd metacarpal
Aplasia/Hypoplasia of the 3rd metacarpal
Aplasia/Hypoplasia of the 4th metacarpal
Aplasia/Hypoplasia of the 5th metacarpal
Aplasia/hypoplasia of the 1st metatarsal
Osteolytic defects of the 1st metatarsal
Cone-shaped epiphysis of the 1st metatarsal
Abnormality of the epiphysis of the 2nd metacarpal
Abnormality of the epiphysis of the 3rd metacarpal
Abnormality of the epiphysis of the 4th metacarpal
Abnormality of the epiphysis of the 5th metacarpal
Ivory epiphyses of the phalanges of the hand
Elevated alkaline phosphatase of hepatic origin
Elevated alkaline phosphatase of bone origin
Patchy variation in bone mineral density
Elevated alkaline phosphatase of renal origin
Low alkaline phosphatase of renal origin
Low alkaline phosphatase of hepatic origin
Advanced pneumatization of the mastoid process
Absence of Lutheran antigen on erythrocytes
Aplasia/Hypoplasia of the cervical spine
Abnormality of the left ventricular outflow tract
Focal autonomic seizures with altered responsiveness
Focal autonomic seizures without altered responsiveness
Underdeveloped inferior crus of antihelix
Underdeveloped superior crus of antihelix
Expanded terminal portion of crus of helix
Recurrent mycobacterium avium complex infections
Abnormality of urine calcium concentration
Childhood onset short-limb short stature
Criss-cross atrioventricular valves with superior-inferior ventricles
Absent left sided atrioventricular connection
Absent right sided atrioventricular connection
Double inlet to single ventricle of indeterminate morphology
Abnormal branching pattern of the aortic arch
Congenitally corrected transposition of the great arteries with ventricular septal defect
Complete diaphragmatic absence of pericardium
Complete right sided absence of pericardium
Partial right sided absence of pericardium
Complete left sided absence of pericardium
Partial left sided absence of pericardium
Partial diaphragmatic absence of pericardium
Anomalous origin of coronary artery from the pulmonary artery
Patent ductus arteriosus after birth at term
Patent ductus arteriosus after premature birth
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis
Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis
Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
Tetralogy of Fallot with absent pulmonary valve
Anomalous origin of one pulmonary artery from ascending aorta
Tetralogy of Fallot with absent subarterial conus
Tetralogy of Fallot with atrioventricular canal defect
Tetralogy of Fallot with pulmonary stenosis
Single ventricle of indeterminate morphology
Supraventricular tachycardia with an accessory connection mediated pathway
Adrenocorticotropin (ACTH) deficient adrenal insufficiency
Corticotropin-releasing hormone (CRH) deficient adrenal insufficiency
Corticotropin-releasing hormone receptor (CRHR) defect
Impaired arachidonic acid-induced platelet aggregation
Impaired thromboxane A2 agonist-induced platelet aggregation
Anemia due to reduced life span of red cells
Incomplete partition of the cochlea type II
Abnormality of the costochondral junction
Thinning and bulging of the posterior fossa bones
Accumulation of melanosomes in melanocytes
Pointed proximal second through fifth metacarpals
Vocal cord paralysis (caused by tumor impingement)
Curved linear dimple below the lower lip
Impaired vibration sensation in the lower limbs
Degeneration of the lateral corticospinal tracts
Abnormal delayed hypersensitivity skin test
Enlargement of the proximal femoral epiphysis
Reduced ratio of renal calcium clearance to creatinine clearance
Decreased beta-glucocerebrosidase protein and activity
Lytic defects in metaphyses of the upper limbs
Normal density transverse bands in metaphyses of the upper limbs
Sclerosis of metaphyses of the upper limbs
Advanced ossification of the humeral epiphysis
Irregular ossification of the humeral epiphyses
Irregular ossification of humeral metaphyses
Cortical irregularity of humeral diaphysis
Aplasia cutis congenita over the scalp vertex
Aplasia cutis congenita over parietal area
Chronic rhinitis due to narrow nasal airway
Absent or minimally ossified vertebral bodies
Anterior concavity of thoracic vertebrae
Aplasia/Hypoplasia of the capital femoral epiphysis
Cone-shaped epiphyses fused within their metaphyses
Congenital hypertrophy of left ventricle
Anomalous origin of right pulmonary artery from ascending aorta
Complete heart block with broad RS complexes
Complete heart block with narrow QRS complexes
Increased anterioposterior diameter of thorax
Increased renal tubular phosphate reabsorption
Decreased renal tubular phosphate excretion
Abnormal vertebral segmentation and fusion
Easily subluxated first metacarpophalangeal joints
Contractures of the joints of the lower limbs
Premature fusion of phalangeal epiphyses
Swan neck-like deformities of the fingers
Flattened, squared-off epiphyses of tubular bones
Hypermobility of distal interphalangeal joints
Metaphyseal cupping of proximal phalanges
Buried teeth encased in mucopolysaccharide
Increased density of long bone diaphyses
Multicentric ossification of proximal femoral epiphyses
Lateral displacement of the femoral head
Aplasia/Hypoplasia involving the carpal bones
Intrahepatic cholestasis with episodic jaundice
Decreased number of sternal ossification centers
Short chordae tendineae of the tricuspid valve
Transitional cell carcinoma of the bladder
Symmetric spinal nerve root neurofibromas
Inability to walk by childhood/adolescence
Decreased amplitude of sensory action potentials
Spinocerebellar tract disease in lower limbs
Atrophy/Degeneration involving the caudate nucleus
Mottled pigmentation of the trunk and proximal extremities
Mottled pigmentation of photoexposed areas
Confetti hypopigmentation pattern of lower leg skin
Telangiectases in sun-exposed and nonexposed skin
Eversion of lateral third of lower eyelids
Slitlike anterior chamber angles in children
Abnormality of the retinal pigment epithelium
Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex IV
Abnormality of the vertebral spinous processes
Aplasia/Hypoplasia of the fallopian tube
Impaired histidine renal tubular absorption
Early ossification of capital femoral epiphyses
Absent ossification of capital femoral epiphysis
Delayed proximal femoral epiphyseal ossification
Progressive loss of facial adipose tissue
Mixed hypo- and hyperpigmentation of the skin
Projection of scalp hair onto lateral cheek
Synostosis involving bones of the fingers
Complete duplication of the 1st metatarsal
Partial duplication of the 1st metatarsal
Abnormality of the epiphyses of the toes
Abnormality of the phalanges of the toes
Fragmentation of the epiphyses of the toes
Osteolytic defects of the phalanges of the toes
Absent epiphyses of the phalanges of the hand
Bracket epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand
Enlarged epiphyses of the phalanges of the hand
Small epiphyses of the phalanges of the hand
Epiphyseal stippling of finger phalanges
Triangular epiphyses of the phalanges of the hand
Ebstein's anomaly of the tricuspid valve
Aplasia/Hypoplasia of the palmar creases
Advanced pneumatization of cranial sinuses
Abnormality of the epiphysis of the femoral head
Extension of eyebrows towards upper eyelid
Abnormality of the temporomandibular joint
Partial anomalous pulmonary venous return
EEG with persistent abnormal rhythmic activity
EEG with generalized low amplitude activity
EEG with localized low amplitude activity
EEG with hyperventilation-induced epileptiform discharges
Abnormality of the intrahepatic bile duct
EEG with generalized epileptiform discharges
EEG with photoparoxysmal response grade I
EEG with photoparoxysmal response grade II
EEG with photoparoxysmal response grade III
EEG with photoparoxysmal response grade IV
Incomplete partition of the cochlea type I
Abnormality of small intestinal villus morphology
Anterior synechiae of the anterior chamber
Posterior synechiae of the anterior chamber
Abnormal migration of corneal endothelium
Reduced number of corneal endothelial cells
Univentricular heart with absent left sided atrioventricular connection
Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection
Right sided atrium to left ventricle and absent left sided atrioventricular connection
Short chordae tendineae of the mitral valve
Common origin of the right brachiocephalic artery and left common carotid artery
Left aortic arch with cervical origin of the right subclavian artery
Left aortic arch with isolated subclavian artery
Left aortic arch with retroesophageal diverticulum of Kommerell
Left aortic arch with retroesophageal right subclavian artery
Left aortic arch with right descending aorta and right ductus arteriosus
Transposition of the great arteries with intact ventricular septum
Transposition of the great arteries with ventricular septal defect
Anomalous origin of left coronary artery from the pulmonary artery
Anomalous origin of right coronary artery from the pulmonary artery
Anomalous origin of left pulmonary artery from ascending aorta
Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries
Supraventricular tachycardia with a concealed accessory connection
Supraventricular tachycardia with a manifest accessory pathway
Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial ATP synthase complex
Intracranial internal carotid artery dissection
Decreased sialylation of N-linked protein glycosylation
Increased sialylation of N-linked protein glycosylation
Decreased fucosylation of N-linked protein glycosylation
Increased fucosylation of N-linked protein glycosylation
Decreased mannosylation of N-linked protein glycosylation
Increased mannosylation of N-linked protein glycosylation
Decreased fucosylation of O-linked protein glycosylation
Increased fucosylation of O-linked protein glycosylation
Decreased sialylation of O-linked protein glycosylation
Medial calcification of medium-sized arteries
Premature epimetaphyseal fusion in tibia
Premature epimetaphyseal fusion in fibula
Premature epimetaphyseal fusion in radius
Pigment deposition in the trabecular meshwork
Delayed ossification of vertebral epiphysis
Fatigable weakness of respiratory muscles
Abnormal motor nerve conduction velocity
Abnormal sensory nerve conduction velocity
Stenosis of the medullary cavity of the long bones
Contractures of the joints of the upper limbs
Synostosis of the proximal phalanx of the hallux with the 1st metatarsal
Displacement of the external urethral meatus
Abnormal pigmentation of the oral mucosa
Recurrent upper and lower respiratory tract infections
Incomplete ossification of palatine bone
Hypothalamic luteinizing hormone-releasing hormone deficiency
Absent ossification of thoracic vertebral bodies
Diffuse glomerular basement membrane lamellation
Sacralization of the fifth lumbar vertebra
Fatigable weakness of swallowing muscles
Fatigable weakness of distal limb muscles
Fatiguable weakness of proximal limb muscles
Partial absence of the septum pellucidum
Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology
Abnormal class-switched memory B cell count
Abnormal ossification of the trapezoid bone
Enlargement of the costochondral junction
Posterior fossa cyst at the fourth ventricle
Absent dorsal skin creases over affected joints
Abnormality of the cerebral white matter
Abnormality of the periventricular white matter
Right aortic arch with mirror image branching
Increased proportion of HLA DR+ and CD57+ T cells
Decreased motor nerve conduction velocity
Decreased sensory nerve conduction velocity
Delayed upper limb epiphyseal ossification
Wide epiphyseal plates of the upper limbs
Sclerosis with transverse striations in metaphyses of the upper limbs
Cortical diaphyseal irregularity of the upper limbs
Cortical diaphyseal thickening of the upper limbs
Cortical subperiosteal resorption (humeral metaphyses)
Stippled calcification of humeral metaphysis
Sclerotic foci of metaphyses of the elbow
Sclerotic radial metaphysis with longitudinal striations
Abnormality of the phalanges of the 5th finger
Subluxation of the proximal interphalangeal joint of the little finger
Sclerosis of hand bones with transverse striations
Anterior beaking of lower thoracic vertebrae
Thickening of the glomerular basement membrane
Posterior scalloping of vertebral bodies
Premature calcification of mitral annulus
Extension of hair growth on temples to lateral eyebrow
Absence of renal corticomedullary differentiation
Macular hypopigmented whorls, streaks, and patches
Facial telangiectasia in butterfly midface distribution
Posterior fusion of lumbosacral vertebrae
Generalized osteoporosis with pathologic fractures
Absent ossification of cervical vertebral bodies
Abnormality of the epiphyses of the phalanges of the hand
Two carpal ossification centers present at birth
Abnormality of phalangeal joints of the hand
Abnormality of the epiphyses of the 2nd finger
Peg-like central prominence of distal tibial metaphyses
Reduced number of intrahepatic bile ducts
Decreased distal sensory nerve action potential
Aplasia/Hypoplasia of the corpus callosum
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
Excessive skin wrinkling on dorsum of hands and fingers
Increased groin pigmentation with raindrop depigmentation
Axillary and groin hyperpigmentation and hypopigmentation
Linear arrays of macular hyperkeratoses in flexural areas
Streaks of hyperkeratosis along each finger onto the palm
Punctate palmar and solar hyperkeratosis
Aplasia cutis congenita of midline scalp vertex
Mediosternal, longitudinal streak of hypopigmentation
Aplasia cutis congenita over posterior parietal area
Bilateral single transverse palmar creases
Nonarteritic anterior ischemic optic neuropathy
Increased red cell hemolysis by shear stress
Abnormal rod and cone electroretinograms
Absent spinous processes of lower thoracic and lumbar vertebrae
Uric acid urolithiasis independent of gout
Loss of ability to walk in early childhood
Aplasia/Hypoplasia of the frontal sinuses
Abnormality of the epiphyses of the 5th finger
Abnormality of the phalanges of the 4th finger
Abnormality of the epiphyses of the 4th finger
Abnormality of the phalanges of the 3rd finger
Abnormality of the epiphyses of the 3rd finger
Abnormality of the phalanges of the 2nd finger
Aplasia/Hypoplasia of the phalanges of the hand
Symphalangism affecting the phalanges of the hand
Abnormality of the distal phalanx of finger
Abnormality of the middle phalanges of the hand
Abnormality of the proximal phalanges of the hand
Abnormality of the epiphyses of the hallux
Abnormality of the phalanges of the hallux
Aplasia/Hypoplasia of the phalanges of the toes
Symphalangism affecting the phalanges of the toes
Abnormality of the distal phalanges of the toes
Abnormality of the middle phalanges of the toes
Abnormality of the epiphyses of the 2nd toe
Abnormality of the epiphyses of the 3rd toe
Abnormality of the phalanges of the 3rd toe
Abnormality of the epiphyses of the 4th toe
Abnormality of the phalanges of the 4th toe
Abnormality of the epiphyses of the 5th toe
Abnormality of the phalanges of the 5th toe
Abnormality of the epiphyses of the feet
EEG with hyperventilation-induced focal epileptiform discharges
EEG with hyperventilation-induced generalized epileptiform discharges
Focal epileptiform discharges with limited propagation to contralateral hemisphere
Focal EEG discharges with propagation to ipsilateral hemisphere
Focal EEG discharges with secondary generalization
EEG with generalized polymorphic epileptiform discharges
EEG with generalized slow activity grade 1
EEG with generalized slow activity grade 2
EEG with generalized slow activity grade 3
EEG with generalized slow activity grade 4
Choroidal neovascularization of the macula
Double inlet to single ventricle with common atrioventricular orifice
Double inlet to single ventricle with two atrioventricular valves
Right aortic arch with retroesophageal diverticulum of Kommerell
Right aortic arch with left descending aorta and left ductus arteriosus
Right aortic arch with retroesophageal left subclavian artery
Apical muscular ventricular septal defect
Multiple muscular ventricular septal defects
Supraventricular tachycardia with a concealed accessory pathway on the left free wall
Supraventricular tachycardia with a concealed accessory pathway on the right free wall
Supraventricular tachycardia with a concealed accessory pathway on the septum
Supraventricular tachycardia with a manifest accessory pathway on the left free wall
Supraventricular tachycardia with a manifest accessory pathway on the right free wall
Supraventricular tachycardia with a manifest accessory pathway on the septum
Supracardiac total anomalous pulmonary venous connection
Cardiac total anomalous pulmonary venous connection
Infracardiac total anomalous pulmonary venous connection
Mixed total anomalous pulmonary venous connection
Abnormality of the superior cerebellar peduncle
Palpebral fissure narrowing on adduction
EEG with irregular generalized spike and wave complexes
Delayed closure of the anterior fontanelle
Dense calcifications in the cerebellar dentate nucleus
Increased number of peripheral CD3+ T cells
Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors
Negative nitroblue tetrazolium (NBT) reduction test
Stippled calcification of the humeral epiphyses
Abnormality of the humeral epiphyseal plate
Sclerotic humeral metaphysis with longitudinal striations
Cortical thickening of humeral diaphysis
Ground glass opacity of humeral diaphysis
Premature fusion of the radial epiphyseal plates
Abnormality of the styloid process of ulna
Abnormality of the middle phalanx of the 3rd finger
Osteolytic defects of the phalanges of the 4th finger
Osteolytic defects of the phalanges of the 5th finger
Abnormality of the middle phalanx of the 5th finger
Abnormality of the distal phalanx of the 5th finger
Delayed ossification of the trapezoid bone
Subluxation of the small joints of the hand
Hump-shaped mound of bone in central and posterior portions of vertebral endplate
Midline skin dimples over anterior/posterior fontanelles
Impaired neutrophil killing of staphylococci
Large cafe-au-lait macules with irregular margins
Cutaneous syndactyly between fingers 2 and 5
Partial fusion of proximal row of carpal bones
Disproportionate shortening of the tibia
Reduced proximal interphalangeal joint space
1-5 finger complete cutaneous syndactyly
Soft tissue swelling of interphalangeal joints
Thin proximal phalanges with broad epiphyses of the hand
Single interphalangeal crease of fifth finger
Limited mobility of proximal interphalangeal joint
Swelling of proximal interphalangeal joints
White mater abnormalities in the posterior periventricular region
Multifocal cerebral white matter abnormalities
Hypointensity of cerebral white matter on MRI
Facial palsy secondary to cranial hyperostosis
Diffuse swelling of cerebral white matter
Discrete 2 to 5-mm hyper- and hypopigmented macules
Absent pigmentation of the ventral chest
Congenital hypertrophy of retinal pigment epithelium
Decreased retinal pigmentation with dispersion
Absent rod-and cone-mediated responses on ERG
Central retinal vessel vascular tortuosity
Neovascularization of peripheral and posterior retina
Butterfly retinal pigment epithelial dystrophy
Macular retinal pigment epithelial mottling
Abnormal distribution of retinal arterioles and venules
Depigmented lesions of the retinal pigment epithelium
Absent in utero ossification of vertebral bodies
Progressive cervical vertebral spine fusion
Narrow anterio-posterior vertebral body diameter
Abnormality of the proximal phalanx of the 5th finger
Fragmentation of the metacarpal epiphyses
Abnormality of the distal phalanx of the 4th finger
Abnormality of the middle phalanx of the 4th finger
Abnormality of the proximal phalanx of the 4th finger
Abnormality of the distal phalanx of the 3rd finger
Abnormality of the proximal phalanx of the 3rd finger
Bullet-shaped phalanges of the 5th finger
Aplasia/Hypoplasia of the phalanges of the 5th finger
Triangular shaped phalanges of the 5th finger
Bullet-shaped phalanges of the 4th finger
Triangular shaped phalanges of the 4th finger
Aplasia/Hypoplasia of the phalanges of the 4th finger
Bullet-shaped phalanges of the 3rd finger
Triangular shaped phalanges of the 3rd finger
Aplasia/Hypoplasia of the phalanges of the 3rd finger
Triangular shaped phalanges of the 2nd finger
Bullet-shaped phalanges of the 2nd finger
Aplasia/Hypoplasia of the phalanges of the 2nd finger
Aplasia/Hypoplasia of the phalanges of the thumb
Aplasia/Hypoplasia of the distal phalanges of the hand
Bullet-shaped distal phalanges of the hand
Osteolytic defects of the distal phalanges of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand
Bullet-shaped middle phalanges of the hand
Osteolytic defects of the middle phalanges of the hand
Symphalangism of middle phalanx of finger
Triangular shaped middle phalanges of the hand
Aplasia/Hypoplasia of the proximal phalanges of the hand
Bullet-shaped proximal phalanges of the hand
Osteolytic defects of the proximal phalanges of the hand
Symphalangism affecting the proximal phalanges of the hand
Triangular shaped proximal phalanges of the hand
Triangular shaped distal phalanges of the hand
Duplication of the distal phalanx of hand
Partial duplication of the phalanx of hand
Duplication of the proximal phalanx of hand
Duplication of the middle phalanx of hand
Abnormality of the proximal phalanx of the hallux
Abnormality of the distal phalanx of the hallux
Aplasia/Hypoplasia of the phalanges of the hallux
Osteolytic defects of the phalanges of the hallux
Symphalangism affecting the phalanges of the hallux
Triangular shaped phalanges of the hallux
Aplasia/Hypoplasia of the distal phalanges of the toes
Osteolytic defects of the distal phalanges of the toes
Symphalangism affecting the distal phalanges of the toes
Triangular shaped distal phalanges of the toes
Aplasia/Hypoplasia of the middle phalanges of the toes
Osteolytic defects of the middle phalanges of the toes
Symphalangism affecting the middle phalanges of the toes
Triangular shaped middle phalanges of the toes
Aplasia/hypoplasia of proximal toe phalanx
Osteolytic defect of the proximal toe phalanx
Symphalangism affecting the proximal phalanges of the toes
Triangular shaped proximal phalanges of the toes
Fragmentation of the epiphyses of the phalanges of the hand
Irregular epiphyses of the phalanges of the hand
Abnormality of the epiphyses of the distal phalanx of finger
Abnormality of the epiphyses of the middle phalanges of the hand
Abnormality of the epiphyses of the proximal phalanges of the hand
Aplasia/Hypoplasia of the phalanges of the 2nd toe
Osteolytic defects of the phalanges of the 2nd toe
Symphalangism affecting the phalanges of the 2nd toe
Triangular shaped phalanges of the 2nd toe
Duplication of the phalanges of the 2nd toe
Abnormality of the distal phalanx of the 2nd toe
Abnormality of the middle phalanx of the 2nd toe
Abnormality of the proximal phalanx of the 2nd toe
Aplasia/Hypoplasia of the phalanges of the 3rd toe
Osteolytic defects of the phalanges of the 3rd toe
Symphalangism affecting the phalanges of the 3rd toe
Triangular shaped phalanges of the 3rd toe
Abnormality of the distal phalanx of the 3rd toe
Abnormality of the middle phalanx of the 3rd toe
Abnormality of the proximal phalanx of the 3rd toe
Aplasia/Hypoplasia of the phalanges of the 4th toe
Osteolytic defects of the phalanges of the 4th toe
Symphalangism affecting the phalanges of the 4th toe
Triangular shaped phalanges of the 4th toe
Abnormality of the distal phalanx of the 4th toe
Abnormality of the middle phalanx of the 4th toe
Abnormality of the proximal phalanx of the 4th toe
Aplasia/Hypoplasia of the phalanges of the 5th toe
Osteolytic defects of the phalanges of the 5th toe
Symphalangism affecting the phalanges of the 5th toe
Triangular shaped phalanges of the 5th toe
Duplication of the phalanges of the 5th toe
Abnormality of the distal phalanx of the 5th toe
Abnormality of the middle phalanx of the 5th toe
Abnormality of the proximal phalanx of the 5th toe
Abnormality of the distal femoral epiphysis
Abnormality of the proximal tibial epiphysis
Abnormality of the distal tibial epiphysis
Abnormality of the proximal fibular epiphysis
Abnormality of the distal fibular epiphysis
Abnormality of the proximal radial epiphysis
Abnormality of the distal radial epiphysis
Abnormality of the proximal humeral epiphysis
Abnormality of the distal humeral epiphysis
Abnormality of the distal ulnar epiphysis
Abnormality of the proximal ulnar epiphysis
EEG with spike-wave complexes (2.5-3.5 Hz)
EEG with periodic lateralized epileptiform discharges
Abnormality of permanent molar morphology
Uni- and bilateral multifocal epileptiform discharges
Aplasia/Hypoplasia of the cerebral white matter
EEG with centrotemporal focal spike waves
Fusiform descending thoracic aortic aneurysm
Saccular descending thoracic aortic aneurysm
Abnormal basal ganglia MRI signal intensity
Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count
Increased class-switched memory B cell count
Decreased class-switched memory B cell count
Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal
Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal
Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal
Focal T2 hypointense basal ganglia lesion
Punctate periventricular T2 hyperintense foci
Absence of CD4-positive, CD25-positive regulatory T cells
Elevated CD4-positive, CD25-positive regulatory T cell count
Aplasia/Hypoplasia of the distal phalanx of the 3rd toe
Aplasia/Hypoplasia of the distal phalanx of the 4th toe
Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Aplasia/Hypoplasia of the middle phalanx of the 3rd toe
Aplasia/Hypoplasia of the middle phalanx of the 4th toe
Aplasia/Hypoplasia of the middle phalanx of the 5th toe
Aplasia/hypoplasia of the proximal phalanx of the 3rd toe
Aplasia/hypoplasia of the proximal phalanx of the 4th toe
Aplasia/hypoplasia of the proximal phalanx of the 5th toe
Aplasia of the middle phalanges of the toes
Aplasia of the proximal phalanges of the toes
Duplication of the distal phalanx of the 3rd toe
Duplication of the distal phalanx of the 4th toe
Duplication of the distal phalanx of the 5th toe
Duplication of the middle phalanx of the 3rd toe
Duplication of the middle phalanx of the 4th toe
Duplication of the middle phalanx of the 5th toe
Duplication of the proximal phalanx of the 3rd toe
Duplication of the proximal phalanx of the 4th toe
Duplication of the proximal phalanx of the 5th toe
Bullet-shaped middle phalanx of the 3rd toe
Bullet-shaped middle phalanx of the 4th toe
Bullet-shaped middle phalanx of the 5th toe
Bullet-shaped proximal phalanx of the 3rd toe
Bullet-shaped proximal phalanx of the 4th toe
Bullet-shaped proximal phalanx of the 5th toe
Bullet-shaped distal phalanx of the 3rd toe
Bullet-shaped distal phalanx of the 4th toe
Bullet-shaped distal phalanx of the 5th toe
Osteolytic defects of the middle phalanx of the 3rd toe
Osteolytic defects of the middle phalanx of the 4th toe
Osteolytic defects of the middle phalanx of the 5th toe
Osteolytic defects of the proximal phalanx of the 3rd toe
Osteolytic defects of the proximal phalanx of the 4th toe
Osteolytic defects of the proximal phalanx of the 5th toe
Osteolytic defects of the distal phalanx of the 3rd toe
Osteolytic defects of the distal phalanx of the 4th toe
Osteolytic defects of the distal phalanx of the 5th toe
Symphalangism affecting the middle phalanx of the 3rd toe
Symphalangism affecting the middle phalanx of the 4th toe
Symphalangism affecting the middle phalanx of the 5th toe
Symphalangism affecting the proximal phalanx of the 3rd toe
Symphalangism affecting the proximal phalanx of the 4th toe
Symphalangism affecting the proximal phalanx of the 5th toe
Symphalangism affecting the distal phalanx of the 3rd toe
Symphalangism affecting the distal phalanx of the 4th toe
Symphalangism affecting the distal phalanx of the 5th toe
Proximal/middle symphalangism of 3rd toe
Proximal/middle symphalangism of 4th toe
Proximal/middle symphalangism of 5th toe
Triangular shaped distal phalanx of the 5th toe
Proximal/middle symphalangism of 2nd toe
Sclerosis of the distal phalanx of the 2nd finger
Sclerosis of the distal phalanx of the 3rd finger
Sclerosis of the distal phalanx of the 4th finger
Sclerosis of the distal phalanx of the 5th finger
Sclerosis of the middle phalanx of the 2nd finger
Sclerosis of the middle phalanx of the 3rd finger
Sclerosis of the middle phalanx of the 4th finger
Sclerosis of the middle phalanx of the 5th finger
Sclerosis of the proximal phalanx of the 2nd finger
Sclerosis of the proximal phalanx of the 3rd finger
Sclerosis of the proximal phalanx of the 4th finger
Sclerosis of the proximal phalanx of the 5th finger
Sclerosis of the distal phalanx of the thumb
Sclerosis of the proximal phalanx of the thumb
Sclerosis of the proximal phalanx of the 2nd toe
Sclerosis of the proximal phalanx of the 3rd toe
Sclerosis of the proximal phalanx of the 4th toe
Sclerosis of the proximal phalanx of the 5th toe
Sclerosis of the middle phalanx of the 2nd toe
Sclerosis of the middle phalanx of the 3rd toe
Sclerosis of the middle phalanx of the 4th toe
Sclerosis of the middle phalanx of the 5th toe
Sclerosis of the distal phalanx of the 2nd toe
Sclerosis of the distal phalanx of the 3rd toe
Sclerosis of the distal phalanx of the 4th toe
Sclerosis of the distal phalanx of the 5th toe
Sclerosis of the proximal phalanx of the hallux
Sclerosis of the distal phalanx of the hallux
Macrodontia of permanent maxillary central incisor
Interphalangeal joint contracture of finger
Acroosteolysis of distal phalanges (feet)
Eye of the tiger anomaly of globus pallidus
Abnormality of the epiphysis of the middle phalanx of the 5th finger
Multicentric ossification of proximal humeral epiphyses
Femoral bowing present at birth, straightening with time
Decreased anterioposterior diameter of lumbar vertebral bodies
Fifth finger distal phalanx clinodactyly
Absent fourth finger distal interphalangeal crease
Short metacarpals with rounded proximal ends
Partial-complete absence of 5th phalanges
Tapering pointed ends of distal finger phalanges
Osteoarthritis of the first carpometacarpal joint
Osteoarthritis of the distal interphalangeal joint
Marked delay in eruption of permanent teeth
Enlargement of the distal femoral epiphysis
Aplasia/Hypoplasia of the  cerebellar vermis
Polymicrogyria, anterior to posterior gradient
Loss of Purkinje cells in the cerebellar vermis
Disorganization of the anterior cerebellar vermis
Focal T2 hyperintense basal ganglia lesion
Palmoplantar keratosis with erythema and scale
Patchy atrophy of the retinal pigment epithelium
Juvenile posterior subcapsular lenticular opacities
Stippled calcification proximal humeral epiphyses
Abnormality of the epiphysis of the proximal phalanx of the 5th finger
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Bullet-shaped middle phalanx of the 5th finger
Osteolytic defects of the middle phalanx of the 5th finger
Patchy sclerosis of the middle phalanx of the 5th finger
Proximal/middle symphalangism of 5th finger
Symphalangism of middle phalanx of 5th finger
Triangular shaped middle phalanx of the 5th finger
Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
Abnormality of the epiphysis of the distal phalanx of the 5th finger
Broad proximal phalanx of the 5th finger
Bullet-shaped proximal phalanx of the 5th finger
Curved proximal phalanx of the 5th finger
Osteolytic defects of the proximal phalanx of the 5th finger
Patchy sclerosis of the proximal phalanx of the 5th finger
Symphalangism affecting the proximal phalanx of the 5th finger
Triangular shaped proximal phalanx of the 5th finger
Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal
Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Bullet-shaped distal phalanx of the 5th finger
Osteolytic defects of the distal phalanx of the 5th finger
Patchy sclerosis of the distal phalanx of the 5th finger
Distal/middle symphalangism of 5th finger
Triangular shaped distal phalanx of the 5th finger
Abnormality of the epiphysis of the middle phalanx of the 4th finger
Abnormality of the epiphysis of the proximal phalanx of the 4th finger
Abnormality of the epiphysis of the distal phalanx of the 4th finger
Curved proximal phalanx of the 4th finger
Aplasia/Hypoplasia of the distal phalanx of the 4th finger
Bullet-shaped middle phalanx of the 4th finger
Osteolytic defects of the middle phalanx of the 4th finger
Aplasia/Hypoplasia of the middle phalanx of the 4th finger
Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
Bullet-shaped distal phalanx of the 4th finger
Osteolytic defects of the distal phalanx of the 4th finger
Patchy sclerosis of the distal phalanx of the 4th finger
Distal/middle symphalangism of 4th finger
Triangular shaped distal phalanx of the 4th finger
Patchy sclerosis of the middle phalanx of the 4th finger
Symphalangism of middle phalanx of 4th finger
Triangular shaped middle phalanx of the 4th finger
Broad proximal phalanx of the 4th finger
Bullet-shaped proximal phalanx of the 4th finger
Osteolytic defects of the proximal phalanx of the 4th finger
Patchy sclerosis of the proximal phalanx of the 4th finger
Symphalangism affecting the proximal phalanx of the 4th finger
Triangular shaped proximal phalanx of the 4th finger
Abnormality of the epiphysis of the distal phalanx of the 3rd finger
Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
Abnormality of the epiphysis of the middle phalanx of the 3rd finger
Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
Bullet-shaped distal phalanx of the 3rd finger
Osteolytic defects of the distal phalanx of the 3rd finger
Patchy sclerosis of the distal phalanx of the 3rd finger
Distal/middle symphalangism of 3rd finger
Triangular shaped distal phalanx of the 3rd finger
Bullet-shaped middle phalanx of the 3rd finger
Osteolytic defects of the middle phalanx of the 3rd finger
Patchy sclerosis of the middle phalanx of the 3rd finger
Symphalangism of middle phalanx of 3rd finger
Triangular shaped middle phalanx of the 3rd finger
Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
Broad proximal phalanx of the 3rd finger
Bullet-shaped proximal phalanx of the 3rd finger
Curved proximal phalanx of the 3rd finger
Osteolytic defects of the proximal phalanx of the 3rd finger
Patchy sclerosis of the proximal phalanx of the 3rd finger
Symphalangism affecting the proximal phalanx of the 3rd finger
Triangular shaped proximal phalanx of the 3rd finger
Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
Proximal/middle symphalangism of 4th finger
Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal
Proximal/middle symphalangism of 3rd finger
Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal
Abnormality of the distal phalanx of the 2nd finger
Abnormality of the middle phalanx of the 2nd finger
Abnormality of the proximal phalanx of the 2nd finger
Bullet-shaped distal phalanx of the 2nd finger
Osteolytic defects of the distal phalanx of the 2nd finger
Distal/middle symphalangism of 2nd finger
Triangular shaped distal phalanx of the 2nd finger
Bullet-shaped middle phalanx of the 2nd finger
Osteolytic defects of the middle phalanx of the 2nd finger
Symphalangism of middle phalanx of 2nd finger
Triangular shaped middle phalanx of the 2nd finger
Proximal/middle symphalangism of the 2nd finger
Bullet-shaped proximal phalanx of the 2nd finger
Curved proximal phalanx of the 2nd finger
Osteolytic defects of the proximal phalanx of the 2nd finger
Symphalangism affecting the proximal phalanx of the 2nd finger
Triangular shaped proximal phalanx of the 2nd finger
Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal
Duplication of the distal phalanx of the thumb
Duplication of the proximal phalanx of the thumb
Abnormality of the distal phalanx of the thumb
Abnormality of the proximal phalanx of the thumb
Bullet-shaped proximal phalanx of the thumb
Osteolytic defect of the proximal phalanx of the thumb
Triangular shaped proximal phalanx of the thumb
Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal
Bullet-shaped distal phalanx of the thumb
Osteolytic defect of the distal phalanx of the thumb
Triangular shaped distal phalanx of the thumb
Patchy sclerosis of distal phalanx of finger
Patchy sclerosis of middle phalanx of finger
Patchy sclerosis of proximal phalanx of finger
Aplasia of the distal phalanges of the hand
Duplication of the proximal phalanx of the 2nd finger
Duplication of the distal phalanx of the 2nd finger
Duplication of the middle phalanx of the 2nd finger
Partial duplication of the phalanges of the 2nd finger
Complete duplication of the phalanges of the 2nd finger
Complete duplication of the phalanges of the 3rd finger
Partial duplication of the phalanges of the 3rd finger
Duplication of the distal phalanx of the 3rd finger
Duplication of the middle phalanx of the 3rd finger
Duplication of the proximal phalanx of the 3rd finger
Complete duplication of the phalanges of the 4th finger
Partial duplication of the phalanges of the 4th finger
Duplication of the distal phalanx of the 4th finger
Duplication of the middle phalanx of the 4th finger
Duplication of the proximal phalanx of the 4th finger
Complete duplication of the phalanges of the 5th finger
Partial duplication of the phalanges of the 5th finger
Duplication of the distal phalanx of the 5th finger
Duplication of the middle phalanx of the 5th finger
Duplication of the proximal phalanx of the 5th finger
Complete duplication of the proximal phalanges of the hand
Complete duplication of the distal phalanges of the hand
Complete duplication of the middle phalanges of the hand
Partial duplication of the proximal phalanges of the hand
Partial duplication of the distal phalanges of the hand
Partial duplication of the middle phalanges of the hand
Aplasia/Hypoplasia of the distal phalanx of the hallux
Bullet-shaped distal phalanx of the hallux
Osteolytic defects of the distal phalanx of the hallux
Symphalangism affecting the distal phalanx of the hallux
Triangular shaped distal phalanx of the hallux
Duplication of the distal phalanx of the hallux
Aplasia/Hypoplasia of the proximal phalanx of the hallux
Bullet-shaped proximal phalanx of the hallux
Osteolytic defects of the proximal phalanx of the hallux
Patchy sclerosis of the proximal phalanx of the hallux
Symphalangism affecting the proximal phalanx of the hallux
Triangular shaped proximal phalanx of the hallux
Duplication of the proximal phalanx of the hallux
Partial duplication of the phalanges of the hallux
Patchy sclerosis of proximal toe phalanx
Pseudoepiphyses of the phalanges of the hand
Aplasia of the middle phalanx of the hand
Aplasia of the proximal phalanges of the hand
Ivory epiphyses of the distal phalanges of the hand
Ivory epiphyses of the middle phalanges of the hand
Ivory epiphyses of the proximal phalanges of the hand
Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
Bullet-shaped proximal phalanx of the 2nd toe
Osteolytic defects of the proximal phalanx of the 2nd toe
Patchy sclerosis of the proximal phalanx of the 2nd toe
Symphalangism affecting the proximal phalanx of the 2nd toe
Triangular shaped proximal phalanx of the 2nd toe
Duplication of the proximal phalanx of the 2nd toe
Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
Bullet-shaped middle phalanx of the 2nd toe
Osteolytic defects of the middle phalanx of the 2nd toe
Patchy sclerosis of the middle phalanx of the 2nd toe
Symphalangism affecting the middle phalanx of the 2nd toe
Triangular shaped middle phalanx of the 2nd toe
Duplication of the middle phalanx of the 2nd toe
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
Bullet-shaped distal phalanx of the 2nd toe
Osteolytic defects of the distal phalanx of the 2nd toe
Symphalangism affecting the distal phalanx of the 2nd toe
Triangular shaped distal phalanx of the 2nd toe
Duplication of the distal phalanx of the 2nd toe
Partial duplication of phalanx of the 2nd toe
Complete duplication of the phalanges of the 2nd toe
Aplasia of the distal phalanges of the toes
Dentinogenesis imperfecta limited to primary teeth
Dentinogenesis imperfecta of primary and permanent teeth
Single isolated congenital hypertrophy of retinal pigment epithelium
Multiple bilateral congenital hypertrophy of retinal pigment epithelium
Hypersegmentation of proximal phalanx of third finger
Hypoplasia of the capital femoral epiphysis
Rudimentary postaxial polydactyly of hands
Dysplastic distal thumb phalanges with a central hole
Radial deviation of thumb terminal phalanx
Rhomboid or triangular shaped 5th finger middle phalanx
Cone-shaped epiphyses of phalanges 2 to 5
Shortening of all middle phalanges of the fingers
Shortening of all distal phalanges of the fingers
Shortening of all proximal phalanges of the fingers
Hypersegmentation of proximal phalanx of second finger
Shortening of all middle phalanges of the toes
Aplasia of the inferior half of the cerebellar vermis
2nd-5th toe middle phalangeal hypoplasia
Contracture of the distal interphalangeal joint of the 5th finger
Contracture of the proximal interphalangeal joint of the 5th finger
Contracture of the metacarpophalangeal joint of the 5th finger
Aplasia of the proximal phalanx of the 5th finger
Short proximal phalanx of the 5th finger
Rhomboid or triangular shaped 5th finger proximal phalanx
Aplasia of the distal phalanx of the 5th finger
Contracture of the distal interphalangeal joint of the 4th finger
Contracture of the proximal interphalangeal joint of the 4th finger
Contracture of the metacarpophalangeal joint of the 4th finger
Aplasia of the distal phalanx of the 4th finger
Aplasia of the proximal phalanx of the 4th finger
Short proximal phalanx of the 4th finger
Rhomboid or triangular shaped 5th finger distal phalanx
Fragmentation of the epiphyses of the 5th finger
Stippling of the epiphyses of the 5th finger
Fragmentation of the epiphyses of the 4th finger
Stippling of the epiphyses of the 4th finger
Fragmentation of the epiphyses of the 3rd finger
Stippling of the epiphyses of the 3rd finger
Aplasia of the distal phalanx of the 3rd finger
Aplasia of the proximal phalanx of the 3rd finger
Short proximal phalanx of the 3rd finger
Contracture of the distal interphalangeal joint of the 3rd finger
Contracture of the metacarpophalangeal joint of the 3rd finger
Contracture of the proximal interphalangeal joint of the 3rd finger
Fragmentation of the epiphyses of the 2nd finger
Stippling of the epiphyses of the 2nd finger
Abnormality of the epiphysis of the distal phalanx of the 2nd finger
Abnormality of the epiphysis of the middle phalanx of the 2nd finger
Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
Contracture of the distal interphalangeal joint of the 2nd finger
Contracture of the metacarpophalangeal joint of the 2nd finger
Contracture of the proximal interphalangeal joint of the 2nd finger
Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
Patchy sclerosis of the distal phalanx of the 2nd finger
Aplasia of the distal phalanx of the 2nd finger
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
Patchy sclerosis of the middle phalanx of the 2nd finger
Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
Broad proximal phalanx of the 2nd finger
Patchy sclerosis of the proximal phalanx of the 2nd finger
Aplasia of the proximal phalanx of the 2nd finger
Short proximal phalanx of the 2nd finger
Complete duplication of distal phalanx of the thumb
Complete duplication of proximal phalanx of the thumb
Complete duplication of the first metacarpal
Contractures of the carpometacarpal joint of the thumb
Contractures of the metacarpophalangeal joint of the thumb
Contractures of the interphalangeal joint of the thumb
Aplasia/Hypoplasia of the proximal phalanx of the thumb
Patchy sclerosis of the proximal phalanx of the thumb
Aplasia/Hypoplasia of the distal phalanx of the thumb
Patchy sclerosis of the distal phalanx of the thumb
Aplasia of the distal phalanx of the thumb
Abnormality of the epiphysis of the distal phalanx of the thumb
Abnormality of the epiphysis of the proximal phalanx of the thumb
Contracture of the distal interphalangeal joints of the fingers
Complete duplication of the distal phalanx of the 2nd finger
Partial duplication of the distal phalanx of the 2nd finger
Complete duplication of the middle phalanx of the 2nd finger
Partial duplication of the middle phalanx of the 2nd finger
Complete duplication of the proximal phalanx of the 2nd finger
Partial duplication of the proximal phalanx of the 2nd finger
Complete duplication of the distal phalanx of the 3rd finger
Complete duplication of the middle phalanx of the 3rd finger
Complete duplication of the proximal phalanx of the 3rd finger
Partial duplication of the distal phalanx of the 3rd finger
Partial duplication of the middle phalanx of the 3rd finger
Partial duplication of the proximal phalanx of the 3rd finger
Complete duplication of the distal phalanx of the 4th finger
Complete duplication of the middle phalanx of the 4th finger
Complete duplication of the proximal phalanx of the 4th finger
Partial duplication of the distal phalanx of the 4th finger
Partial duplication of the middle phalanx of the 4th finger
Partial duplication of the proximal phalanx of the 4th finger
Complete duplication of the distal phalanx of the 5th finger
Complete duplication of the middle phalanx of the 5th finger
Complete duplication of the proximal phalanx of the 5th finger
Partial duplication of the distal phalanx of the 5th finger
Partial duplication of the middle phalanx of the 5th finger
Partial duplication of the proximal phalanx of the 5th finger
Cone-shaped epiphysis of the 1st metacarpal
Enlarged epiphysis of the 1st metacarpal
Fragmentation of the epiphysis of the 1st metacarpal
Irregular epiphysis of the 1st metacarpal
Epiphyseal stippling of the first metacarpal
Triangular epiphysis of the 1st metacarpal
Patchy sclerosis of the distal phalanx of the hallux
Complete duplication of the proximal phalanx of the hallux
Partial duplication of the proximal phalanx of the hallux
Complete duplication of the distal phalanx of the hallux
Partial duplication of the distal phalanx of the hallux
Aplasia of the proximal phalanx of the hallux
Fragmentation of the epiphyses of the hallux
Stippling of the epiphyses of the hallux
Abnormality of the epiphysis of the distal phalanx of the hallux
Abnormality of the epiphysis of the 1st metatarsal
Abnormality of the epiphysis of the proximal phalanx of the hallux
Contracture of the tarsometatarsal joint of the hallux
Contracture of the interphalangeal joint of the hallux
Contractures of the metatarsophalangeal joint of the hallux
Absent epiphyses of the distal phalanges of the hand
Bracket epiphyses of the distal phalanges of the hand
Cone-shaped epiphyses of the distal phalanges of the hand
Enlarged epiphyses of the distal phalanges of the hand
Fragmentation of the epiphyses of the distal phalanges of the hand
Irregular epiphyses of the distal phalanges of the hand
Pseudoepiphyses of the distal phalanges of the hand
Small epiphyses of the distal phalanges of the hand
Stippling of the epiphyses of the distal phalanges of the hand
Triangular epiphyses of the distal phalanges of the hand
Absent epiphyses of the middle phalanges of the hand
Bracket epiphyses of the middle phalanges of the hand
Cone-shaped epiphyses of the middle phalanges of the hand
Enlarged epiphyses of the middle phalanges of the hand
Fragmentation of the epiphyses of the middle phalanges of the hand
Irregular epiphyses of the middle phalanges of the hand
Pseudoepiphyses of the middle phalanges of the hand
Small epiphyses of the middle phalanges of the hand
Stippling of the epiphyses of the middle phalanges of the hand
Triangular epiphyses of the middle phalanges of the hand
Absent epiphyses of the proximal phalanges of the hand
Bracket epiphyses of the proximal phalanges of the hand
Cone-shaped epiphyses of the proximal phalanges of the hand
Enlarged epiphyses of the proximal phalanges of the hand
Fragmentation of the epiphyses of the proximal phalanges of the hand
Irregular epiphyses of the proximal phalanges of the hand
Pseudoepiphyses of the proximal phalanges of the hand
Small epiphyses of the proximal phalanges of the hand
Stippling of the epiphyses of the proximal phalanges of the hand
Triangular epiphyses of the proximal phalanges of the hand
Patchy sclerosis of the distal phalanx of the 2nd toe
Complete duplication of the proximal phalanx of the 2nd toe
Partial duplication of the proximal phalanx of the 2nd toe
Complete duplication of the distal phalanx of the 2nd toe
Partial duplication of the distal phalanx of the 2nd toe
Complete duplication of the middle phalanx of the 2nd toe
Partial duplication of the middle phalanx of the 2nd toe
Aplasia of the middle phalanx of the 2nd toe
Fragmentation of the epiphyses of the 2nd toe
Stippling of the epiphyses of the 2nd toe
Fragmentation of the epiphyses of the 3rd toe
Stippling of the epiphyses of the 3rd toe
Fragmentation of the epiphyses of the 4th toe
Stippling of the epiphyses of the 4th toe
Fragmentation of the epiphyses of the 5th toe
Stippling of the epiphyses of the 5th toe
Abnormality of the epiphysis of the distal phalanx of the 2nd toe
Abnormality of the epiphysis of the middle phalanx of the 2nd toe
Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
Abnormality of the epiphysis of the distal phalanx of the 3rd toe
Abnormality of the epiphysis of the middle phalanx of the 3rd toe
Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
Abnormality of the epiphysis of the distal phalanx of the 4th toe
Abnormality of the epiphysis of the middle phalanx of the 4th toe
Abnormality of the epiphysis of the proximal phalanx of the 4th toe
Abnormality of the epiphysis of the distal phalanx of the 5th toe
Abnormality of the epiphysis of the middle phalanx of the 5th toe
Abnormality of the epiphysis of the proximal phalanx of the 5th toe
Contracture of the proximal interphalangeal joint of the 2nd toe
Contracture of the proximal interphalangeal joint of the 3rd toe
Contracture of the proximal interphalangeal joint of the 4th toe
Contractures of the proximal interphalangeal joint of the 5th toe
Contracture of the distal interphalangeal joint of the 2nd toe
Contracture of the distal interphalangeal joint of the 3rd toe
Contracture of the distal interphalangeal joint of the 4th toe
Contractures of the distal interphalangeal joint of the 5th toe
Contracture of the metatarsophalangeal joint of the 2nd toe
Contracture of the metatarsophalangeal joint of the 3rd toe
Contracture of the metatarsophalangeal joint of the 4th toe
Contracture of the metatarsophalangeal joint of the 5th toe
Aplasia of the middle phalanx of the 4th toe
Aplasia of the middle phalanx of the 5th toe
Aplasia of the proximal phalanx of the 4th toe
Aplasia of the proximal phalanx of the 5th toe
Complete duplication of the distal phalanx of the 3rd toe
Complete duplication of the distal phalanx of the 4th toe
Complete duplication of the distal phalanx of the 5th toe
Complete duplication of the middle phalanx of the 3rd toe
Complete duplication of the middle phalanx of the 4th toe
Complete duplication of the middle phalanx of the 5th toe
Complete duplication of the proximal phalanx of the 3rd toe
Complete duplication of the proximal phalanx of the 4th toe
Complete duplication of the proximal phalanx of the 5th toe
Partial duplication of the distal phalanx of the 3rd toe
Partial duplication of the distal phalanx of the 4th toe
Partial duplication of the distal phalanx of the 5th toe
Partial duplication of the middle phalanx of the 3rd toe
Partial duplication of the middle phalanx of the 4th toe
Partial duplication of the middle phalanx of the 5th toe
Partial duplication of the proximal phalanx of the 3rd toe
Partial duplication of the proximal phalanx of the 4th toe
Partial duplication of the proximal phalanx of the 5th toe
Patchy sclerosis of the middle phalanx of the 3rd toe
Patchy sclerosis of the middle phalanx of the 4th toe
Patchy sclerosis of the middle phalanx of the 5th toe
Patchy sclerosis of the proximal phalanx of the 3rd toe
Patchy sclerosis of the proximal phalanx of the 4th toe
Patchy sclerosis of the proximal phalanx of the 5th toe
Patchy sclerosis of the distal phalanx of the 3rd toe
Patchy sclerosis of the distal phalanx of the 4th toe
Patchy sclerosis of the distal phalanx of the 5th toe
Absent epiphysis of the distal phalanx of the 2nd toe
Bracket epiphysis of the distal phalanx of the 2nd toe
Cone-shaped epiphysis of the distal phalanx of the 2nd toe
Enlarged epiphysis of the distal phalanx of the 2nd toe
Fragmentation of the epiphysis of the distal phalanx of the 2nd toe
Irregular epiphysis of the distal phalanx of the 2nd toe
Ivory epiphysis of the distal phalanx of the 2nd toe
Pseudoepiphysis of the distal phalanx of the 2nd toe
Small epiphysis of the distal phalanx of the 2nd toe
Stippling of the epiphysis of the distal phalanx of the 2nd toe
Triangular epiphysis of the distal phalanx of the 2nd toe
Absent epiphysis of the middle phalanx of the 2nd toe
Bracket epiphysis of the middle phalanx of the 2nd toe
Cone-shaped epiphysis of the middle phalanx of the 2nd toe
Enlarged epiphysis of the middle phalanx of the 2nd toe
Fragmentation of the epiphysis of the middle phalanx of the 2nd toe
Irregular epiphysis of the middle phalanx of the 2nd toe
Ivory epiphysis of the middle phalanx of the 2nd toe
Pseudoepiphysis of the middle phalanx of the 2nd toe
Small epiphysis of the middle phalanx of the 2nd toe
Stippling of the epiphysis of the middle phalanx of the 2nd toe
Triangular epiphysis of the middle phalanx of the 2nd toe
Absent epiphysis of the proximal phalanx of the 2nd toe
Bracket epiphysis of the proximal phalanx of the 2nd toe
Cone-shaped epiphysis of the proximal phalanx of the 2nd toe
Enlarged epiphysis of the proximal phalanx of the 2nd toe
Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe
Irregular epiphysis of the proximal phalanx of the 2nd toe
Ivory epiphysis of the proximal phalanx of the 2nd toe
Pseudoepiphysis of the proximal phalanx of the 2nd toe
Small epiphysis of the proximal phalanx of the 2nd toe
Stippling of the epiphysis of the proximal phalanx of the 2nd toe
Triangular epiphysis of the proximal phalanx of the 2nd toe
Absent epiphysis of the distal phalanx of the 3rd toe
Bracket epiphysis of the distal phalanx of the 3rd toe
Cone-shaped epiphysis of the distal phalanx of the 3rd toe
Enlarged epiphysis of the distal phalanx of the 3rd toe
Fragmentation of the epiphysis of the distal phalanx of the 3rd toe
Irregular epiphysis of the distal phalanx of the 3rd toe
Ivory epiphysis of the distal phalanx of the 3rd toe
Pseudoepiphysis of the distal phalanx of the 3rd toe
Small epiphysis of the distal phalanx of the 3rd toe
Stippling of the epiphysis of the distal phalanx of the 3rd toe
Triangular epiphysis of the distal phalanx of the 3rd toe
Absent epiphysis of the middle phalanx of the 3rd toe
Bracket epiphysis of the middle phalanx of the 3rd toe
Cone-shaped epiphysis of the middle phalanx of the 3rd toe
Enlarged epiphysis of the middle phalanx of the 3rd toe
Fragmentation of the epiphysis of the middle phalanx of the 3rd toe
Irregular epiphysis of the middle phalanx of the 3rd toe
Ivory epiphysis of the middle phalanx of the 3rd toe
Pseudoepiphysis of the middle phalanx of the 3rd toe
Small epiphysis of the middle phalanx of the 3rd toe
Stippling of the epiphysis of the middle phalanx of the 3rd toe
Triangular epiphysis of the middle phalanx of the 3rd toe
Absent epiphysis of the proximal phalanx of the 3rd toe
Bracket epiphysis of the proximal phalanx of the 3rd toe
Cone-shaped epiphysis of the proximal phalanx of the 3rd toe
Enlarged epiphysis of the proximal phalanx of the 3rd toe
Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe
Irregular epiphysis of the proximal phalanx of the 3rd toe
Ivory epiphysis of the proximal phalanx of the 3rd toe
Pseudoepiphysis of the proximal phalanx of the 3rd toe
Small epiphysis of the proximal phalanx of the 3rd toe
Stippling of the epiphysis of the proximal phalanx of the 3rd toe
Triangular epiphysis of the proximal phalanx of the 3rd toe
Absent epiphysis of the distal phalanx of the 4th toe
Bracket epiphysis of the distal phalanx of the 4th toe
Cone-shaped epiphysis of the distal phalanx of the 4th toe
Enlarged epiphysis of the distal phalanx of the 4th toe
Fragmentation of the epiphysis of the distal phalanx of the 4th toe
Irregular epiphysis of the distal phalanx of the 4th toe
Ivory epiphysis of the distal phalanx of the 4th toe
Pseudoepiphysis of the distal phalanx of the 4th toe
Small epiphysis of the distal phalanx of the 4th toe
Stippling of the epiphysis of the distal phalanx of the 4th toe
Triangular epiphysis of the distal phalanx of the 4th toe
Absent epiphysis of the middle phalanx of the 4th toe
Bracket epiphysis of the middle phalanx of the 4th toe
Cone-shaped epiphysis of the middle phalanx of the 4th toe
Enlarged epiphysis of the middle phalanx of the 4th toe
Fragmentation of the epiphysis of the middle phalanx of the 4th toe
Irregular epiphysis of the middle phalanx of the 4th toe
Ivory epiphysis of the middle phalanx of the 4th toe
Pseudoepiphysis of the middle phalanx of the 4th toe
Small epiphysis of the middle phalanx of the 4th toe
Stippling of the epiphysis of the middle phalanx of the 4th toe
Triangular epiphysis of the middle phalanx of the 4th toe
Absent epiphysis of the proximal phalanx of the 4th toe
Bracket epiphysis of the proximal phalanx of the 4th toe
Cone-shaped epiphysis of the proximal phalanx of the 4th toe
Enlarged epiphysis of the proximal phalanx of the 4th toe
Fragmentation of the epiphysis of the proximal phalanx of the 4th toe
Irregular epiphysis of the proximal phalanx of the 4th toe
Ivory epiphysis of the proximal phalanx of the 4th toe
Pseudoepiphysis of the proximal phalanx of the 4th toe
Small epiphysis of the proximal phalanx of the 4th toe
Stippling of the epiphysis of the proximal phalanx of the 4th toe
Triangular epiphysis of the proximal phalanx of the 4th toe
Absent epiphysis of the distal phalanx of the 5th toe
Bracket epiphysis of the distal phalanx of the 5th toe
Cone-shaped epiphysis of the distal phalanx of the 5th toe
Enlarged epiphysis of the distal phalanx of the 5th toe
Fragmentation of the epiphysis of the distal phalanx of the 5th toe
Irregular epiphysis of the distal phalanx of the 5th toe
Ivory epiphysis of the distal phalanx of the 5th toe
Pseudoepiphysis of the distal phalanx of the 5th toe
Small epiphysis of the distal phalanx of the 5th toe
Stippling of the epiphysis of the distal phalanx of the 5th toe
Triangular epiphysis of the distal phalanx of the 5th toe
Absent epiphysis of the middle phalanx of the 5th toe
Bracket epiphysis of the middle phalanx of the 5th toe
Cone-shaped epiphysis of the middle phalanx of the 5th toe
Enlarged epiphysis of the middle phalanx of the 5th toe
Fragmentation of the epiphysis of the middle phalanx of the 5th toe
Irregular epiphysis of the middle phalanx of the 5th toe
Ivory epiphysis of the middle phalanx of the 5th toe
Pseudoepiphysis of the middle phalanx of the 5th toe
Small epiphysis of the middle phalanx of the 5th toe
Stippling of the epiphysis of the middle phalanx of the 5th toe
Triangular epiphysis of the middle phalanx of the 5th toe
Absent epiphysis of the proximal phalanx of the 5th toe
Bracket epiphysis of the proximal phalanx of the 5th toe
Cone-shaped epiphysis of the proximal phalanx of the 5th toe
Enlarged epiphysis of the proximal phalanx of the 5th toe
Fragmentation of the epiphysis of the proximal phalanx of the 5th toe
Irregular epiphysis of the proximal phalanx of the 5th toe
Ivory epiphysis of the proximal phalanx of the 5th toe
Pseudoepiphysis of the proximal phalanx of the 5th toe
Small epiphysis of the proximal phalanx of the 5th toe
Stippling of the epiphysis of the proximal phalanx of the 5th toe
Triangular epiphysis of the proximal phalanx of the 5th toe
Aplasia of the distal phalanx of the 4th toe
Aplasia of the distal phalanx of the 5th toe
Absent epiphysis of the distal phalanx of the 5th finger
Cone-shaped epiphysis of the distal phalanx of the 5th finger
Ivory epiphysis of the distal phalanx of the 5th finger
Shortening of all distal phalanges of the toes
Expanded phalanges with widened medullary cavities
Enlarged epiphysis of the distal phalanx of the 5th finger
Small epiphysis of the distal phalanx of the 5th finger
Triangular epiphysis of the distal phalanx of the 5th finger
Triangular epiphysis of the proximal phalanx of the 5th finger
Cone-shaped epiphysis of the proximal phalanx of the 5th finger
Ivory epiphysis of the proximal phalanx of the 5th finger
Enlarged epiphysis of the proximal phalanx of the 5th finger
Small epiphysis of the proximal phalanx of the 5th finger
Absent epiphysis of the proximal phalanx of the 5th finger
Stippling of the epiphysis of the distal phalanx of the 5th finger
Fragmentation of the epiphysis of the distal phalanx of the 5th finger
Irregular epiphysis of the distal phalanx of the 5th finger
Bracket epiphysis of the distal phalanx of the 5th finger
Pseudoepiphysis of the distal phalanx of the 5th finger
Bracket epiphysis of the proximal phalanx of the 5th finger
Irregular epiphysis of the proximal phalanx of the 5th finger
Pseudoepiphysis of the proximal phalanx of the 5th finger
Stippling of the epiphysis of the proximal phalanx of the 5th finger
Fragmentation of the epiphysis of the proximal phalanx of the 5th finger
Absent epiphysis of the middle phalanx of the 5th finger
Bracket epiphysis of the middle phalanx of the 5th finger
Cone-shaped epiphysis of the middle phalanx of the 5th finger
Enlarged epiphysis of the middle phalanx of the 5th finger
Fragmentation of the epiphysis of the middle phalanx of the 5th finger
Irregular epiphysis of the middle phalanx of the 5th finger
Ivory epiphysis of the middle phalanx of the 5th finger
Pseudoepiphysis of the middle phalanx of the 5th finger
Small epiphysis of the middle phalanx of the 5th finger
Stippling of the epiphysis of the middle phalanx of the 5th finger
Triangular epiphysis of the middle phalanx of the 5th finger
Absent epiphysis of the middle phalanx of the 4th finger
Bracket epiphysis of the middle phalanx of the 4th finger
Cone-shaped epiphysis of the middle phalanx of the 4th finger
Enlarged epiphysis of the middle phalanx of the 4th finger
Fragmentation of the epiphysis of the middle phalanx of the 4th finger
Irregular epiphysis of the middle phalanx of the 4th finger
Ivory epiphysis of the middle phalanx of the 4th finger
Pseudoepiphysis of the middle phalanx of the 4th finger
Small epiphysis of the middle phalanx of the 4th finger
Stippling of the epiphysis of the middle phalanx of the 4th finger
Triangular epiphysis of the middle phalanx of the 4th finger
Absent epiphysis of the distal phalanx of the 4th finger
Bracket epiphysis of the distal phalanx of the 4th finger
Cone-shaped epiphysis of the distal phalanx of the 4th finger
Enlarged epiphysis of the distal phalanx of the 4th finger
Fragmentation of the epiphysis of the distal phalanx of the 4th finger
Irregular epiphysis of the distal phalanx of the 4th finger
Ivory epiphysis of the distal phalanx of the 4th finger
Pseudoepiphysis of the distal phalanx of the 4th finger
Small epiphysis of the distal phalanx of the 4th finger
Stippling of the epiphysis of the distal phalanx of the 4th finger
Triangular epiphysis of the distal phalanx of the 4th finger
Absent epiphysis of the proximal phalanx of the 4th finger
Bracket epiphysis of the proximal phalanx of the 4th finger
Cone-shaped epiphysis of the proximal phalanx of the 4th finger
Enlarged epiphysis of the proximal phalanx of the 4th finger
Fragmentation of the epiphysis of the proximal phalanx of the 4th finger
Irregular epiphysis of the proximal phalanx of the 4th finger
Ivory epiphysis of the proximal phalanx of the 4th finger
Pseudoepiphysis of the proximal phalanx of the 4th finger
Small epiphysis of the proximal phalanx of the 4th finger
Stippling of the epiphysis of the proximal phalanx of the 4th finger
Triangular epiphysis of the proximal phalanx of the 4th finger
Absent epiphysis of the middle phalanx of the 3rd finger
Bracket epiphysis of the middle phalanx of the 3rd finger
Cone-shaped epiphysis of the middle phalanx of the 3rd finger
Enlarged epiphysis of the middle phalanx of the 3rd finger
Fragmentation of the epiphysis of the middle phalanx of the 3rd finger
Irregular epiphysis of the middle phalanx of the 3rd finger
Ivory epiphysis of the middle phalanx of the 3rd finger
Pseudoepiphysis of the middle phalanx of the 3rd finger
Small epiphysis of the middle phalanx of the 3rd finger
Stippling of the epiphysis of the middle phalanx of the 3rd finger
Triangular epiphysis of the middle phalanx of the 3rd finger
Absent epiphysis of the distal phalanx of the 3rd finger
Bracket epiphysis of the distal phalanx of the 3rd finger
Cone-shaped epiphysis of the distal phalanx of the 3rd finger
Enlarged epiphysis of the distal phalanx of the 3rd finger
Fragmentation of the epiphysis of the distal phalanx of the 3rd finger
Irregular epiphysis of the distal phalanx of the 3rd finger
Ivory epiphysis of the distal phalanx of the 3rd finger
Pseudoepiphysis of the distal phalanx of the 3rd finger
Small epiphysis of the distal phalanx of the 3rd finger
Stippling of the epiphysis of the distal phalanx of the 3rd finger
Triangular epiphysis of the distal phalanx of the 3rd finger
Absent epiphysis of the proximal phalanx of the 3rd finger
Bracket epiphysis of the proximal phalanx of the 3rd finger
Cone-shaped epiphysis of the proximal phalanx of the 3rd finger
Enlarged epiphysis of the proximal phalanx of the 3rd finger
Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger
Irregular epiphysis of the proximal phalanx of the 3rd finger
Ivory epiphysis of the proximal phalanx of the 3rd finger
Pseudoepiphysis of the proximal phalanx of the 3rd finger
Small epiphysis of the proximal phalanx of the 3rd finger
Stippling of the epiphysis of the proximal phalanx of the 3rd finger
Triangular epiphysis of the proximal phalanx of the 3rd finger
Absent epiphysis of the distal phalanx of the 2nd finger
Bracket epiphysis of the distal phalanx of the 2nd finger
Cone-shaped epiphysis of the distal phalanx of the 2nd finger
Enlarged epiphysis of the distal phalanx of the 2nd finger
Fragmentation of the epiphysis of the distal phalanx of the 2nd finger
Irregular epiphysis of the distal phalanx of the 2nd finger
Ivory epiphysis of the distal phalanx of the 2nd finger
Pseudoepiphysis of the distal phalanx of the 2nd finger
Small epiphysis of the distal phalanx of the 2nd finger
Stippling of the epiphysis of the distal phalanx of the 2nd finger
Triangular epiphysis of the distal phalanx of the 2nd finger
Absent epiphysis of the middle phalanx of the 2nd finger
Bracket epiphysis of the middle phalanx of the 2nd finger
Cone-shaped epiphysis of the middle phalanx of the 2nd finger
Enlarged epiphysis of the middle phalanx of the 2nd finger
Fragmentation of the epiphysis of the middle phalanx of the 2nd finger
Irregular epiphysis of the middle phalanx of the 2nd finger
Ivory epiphysis of the middle phalanx of the 2nd finger
Pseudoepiphysis of the middle phalanx of the 2nd finger
Small epiphysis of the middle phalanx of the 2nd finger
Stippling of the epiphysis of the middle phalanx of the 2nd finger
Triangular epiphysis of the middle phalanx of the 2nd finger
Absent epiphysis of the proximal phalanx of the 2nd finger
Bracket epiphysis of the proximal phalanx of the 2nd finger
Cone-shaped epiphysis of the proximal phalanx of the 2nd finger
Enlarged epiphysis of the proximal phalanx of the 2nd finger
Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
Irregular epiphysis of the proximal phalanx of the 2nd finger
Ivory epiphysis of the proximal phalanx of the 2nd finger
Pseudoepiphysis of the proximal phalanx of the 2nd finger
Small epiphysis of the proximal phalanx of the 2nd finger
Stippling of the epiphysis of the proximal phalanx of the 2nd finger
Triangular epiphysis of the proximal phalanx of the 2nd finger
Absent epiphysis of the proximal phalanx of the thumb
Bracket epiphysis of the proximal phalanx of the thumb
Cone-shaped epiphysis of the proximal phalanx of the thumb
Enlarged epiphysis of the proximal phalanx of the thumb
Fragmentation of the epiphysis of the proximal phalanx of the thumb
Irregular epiphysis of the proximal phalanx of the thumb
Ivory epiphysis of the proximal phalanx of the thumb
Pseudoepiphysis of the proximal phalanx of the thumb
Small epiphysis of the proximal phalanx of the thumb
Stippling of the epiphysis of the proximal phalanx of the thumb
Triangular epiphysis of the proximal phalanx of the thumb
Absent epiphysis of the distal phalanx of the thumb
Bracket epiphysis of the distal phalanx of the thumb
Cone-shaped epiphysis of the distal phalanx of the thumb
Enlarged epiphysis of the distal phalanx of the thumb
Fragmentation of the epiphysis of the distal phalanx of the thumb
Irregular epiphysis of the distal phalanx of the thumb
Ivory epiphysis of the distal phalanx of the thumb
Pseudoepiphysis of the distal phalanx of the thumb
Small epiphysis of the distal phalanx of the thumb
Stippling of the epiphysis of the distal phalanx of the thumb
Triangular epiphysis of the distal phalanx of the thumb
Aplasia of the distal phalanx of the hallux
Absent epiphysis of the proximal phalanx of the hallux
Bracket epiphysis of the proximal phalanx of the hallux
Cone-shaped epiphysis of the proximal phalanx of the hallux
Enlarged epiphysis of the proximal phalanx of the hallux
Fragmentation of the epiphysis of the proximal phalanx of the hallux
Irregular epiphysis of the proximal phalanx of the hallux
Ivory epiphysis of the proximal phalanx of the hallux
Pseudoepiphysis of the proximal phalanx of the hallux
Small epiphysis of the proximal phalanx of the hallux
Stippling of the epiphysis of the proximal phalanx of the hallux
Triangular epiphysis of the proximal phalanx of the hallux
Absent epiphysis of the distal phalanx of the hallux
Bracket epiphysis of the distal phalanx of the hallux
Cone-shaped epiphysis of the distal phalanx of the hallux
Enlarged epiphysis of the distal phalanx of the hallux
Fragmentation of the epiphysis of the distal phalanx of the hallux
Irregular epiphysis of the distal phalanx of the hallux
Ivory epiphysis of the distal phalanx of the hallux
Pseudoepiphysis of the distal phalanx of the hallux
Small epiphysis of the distal phalanx of the hallux
Stippling of the epiphysis of the distal phalanx of the hallux
Triangular epiphysis of the distal phalanx of the hallux
Enlarged epiphysis of the 1st metatarsal
Fragmentation of the epiphysis of the 1st metatarsal
Irregular epiphysis of the 1st metatarsal
Stippling of the epiphysis of the 1st metatarsal
Triangular epiphysis of the 1st metatarsal
Aplasia of the proximal phalanx of the 2nd toe
Agenesis of permanent maxillary central incisor
Agenesis of primary maxillary central incisor
Agenesis of primary mandibular central incisor
Agenesis of permanent mandibular central incisor
Agenesis of primary maxillary lateral incisor
Agenesis of permanent maxillary lateral incisor
Agenesis of permanent mandibular lateral incisor
Agenesis of primary mandibular lateral incisor