Abnormality of prenatal development or birth
Abnormality of the cardiovascular system
Abnormality of  blood and blood-forming tissues
Abnormality of the hypothalamus-pituitary axis
Abnormalities of placenta and 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 musculature of the neck
Abnormality of cardiovascular system physiology
Abnormality of nervous system physiology
Abnormality of nervous system morphology
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
Increased adipose tissue around the neck
Abnormality of the peripheral nervous system
Abnormality of the hip-girdle musculature
Aplasia/Hypoplasia of the musculature of the pelvis
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
Low urinary cyclic AMP response to PTH administration
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
Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
Abnormality of alkaline phosphatase activity
Abnormality of the pulmonary vasculature
Premature delivery because of cervical insufficiency or membrane fragility
Abnormality of the kinin-kallikrein system
Abnormality of the vasculature of the eye
Absence of secondary sex characteristics
Morphological abnormality of the middle ear
Depletion of mitochondrial DNA in muscle tissue
Abnormal calcification of the carpal bones
Abnormality of ductus venosus blood flow
Abnormality of umbilical vein blood flow
Absence of stomach bubble on fetal sonography
Abnormality of the abdominal musculature
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
Functional abnormality of male internal genitalia
Dermatological manifestations of systemic disorders
Hepatic abscesses due to immunodeficiency
Aplasia/Hypoplasia involving the musculature of the upper limbs
Congenital fibrosis of extraocular muscles
Rhythm disturbances associated with pheochromocytoma
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
Bowing of limbs due to multiple fractures
Defective DNA repair after ultraviolet radiation damage
Abnormality of peripheral nerve conduction
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
Chromosomal breakage induced by crosslinking agents
Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
Reduced orotidine 5-prime phosphate decarboxylase activity
Endopolyploidy on chromosome studies of bone marrow
Abnormality of the neuromuscular junction
EMG: decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation
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
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
premature birth following premature rupture of fetal membranes
Abnormalities of the peripheral arteries
Unilateral absence of pectoralis major muscle
Recurrent infections in infancy and early childhood
Abnormality of the tracheobronchial system
Abnormal respiratory motile cilium morphology
Restricted neck movement due to contractures
Prolonged bleeding after dental extraction
Periosteal thickening of long tubular bones
Decreased mitochondrial complex III activity in liver tissue
Abnormality of the atrioventricular valves
Morphological abnormality of the central nervous system
Abnormality of somatosensory evoked potentials
Absence of subcutaneous fat over entire body except buttocks, hips, and thighs
Abnormality of the vasculature of the conjunctiva
Thyroid defect in oxidation and organification of iodide
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
Supernumerary bones of the axial skeleton
Pyramidal skinfold extending from the base to the top of the nails
Aplasia/Hypoplasia of the musculature of the thigh
Abnormality of the joints of the upper limbs
Aplasia/Hypoplasia of the abdominal wall musculature
Abnormality of branched chain family amino acid metabolism
Abnormality of serine family amino acid metabolism
Abnormality of aspartate family amino acid metabolism
Abnormality of glutamine family amino acid metabolism
Abnormality of histidine 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
Absence of Lutheran antigen on erythrocytes
Abnormality of the level of lipoprotein cholesterol
Abnormality of the common coagulation pathway
Chromosomal breakage induced by ionizing radiation
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
Morphological abnormality of the semicircular canal
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
Anemia due to reduced life span of red cells
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
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
Neoplasm of the peripheral nervous system
Abnormality of the medullary cavity of the long bones
EMG: continuous motor unit activity at rest
Abnormality of the joints of the lower limbs
Abnormality of the vitamin B3 metabolism
Respiratory insufficiency due to defective ciliary clearance
Reduced quantity of Von Willebrand factor
Abnormal axonemal organization of motile cilia
Abnormal central microtubular pair morphology of motile cilia
Absent central microtubular pair morphology of motile cilia
Increased carotid artery intimal medial thickness
Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration
Abnormality of urinary uric acid concentration
Abnormality of pattern reversal visual evoked potentials
Abnormality of peripheral somatosensory evoked potentials
Abnormality of central somatosensory evoked potentials
Muscle fiber cytoplasmatic inclusion bodies
Muscle fiber intranuclear inclusion bodies
Benign neoplasm of the central nervous system
Malignant neoplasm of the central nervous system
Neoplasia of the male external genitalia
Long chain 3 hydroxyacyl coA dehydrogenase deficiency
Abnormal liver function tests during pregnancy
increased serum bile acid concentration during pregnancy
Abnormality of female 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)
Acral ulceration and osteomyelitis leading to autoamputation of digits
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
Aplasia/Hypoplasia involving the central nervous system
Subperiosteal erosions due to secondary hyperparathyroidism
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
Generalized hypotonia due to defect at the neuromuscular junction
Decreased motor nerve conduction velocity
Decreased sensory nerve conduction velocity
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
Absent ossification/Absence of the humeral epiphyses
Irregular ossification of the humeral epiphyses
Irregular ossification of humeral metaphyses
Irregular ossification of the radial metaphysis
Subluxation of the proximal interphalangeal joint of the little finger
Prolonged brainstem auditory evoked potentials
Respiratory failure due to intercostal muscle and diaphragm involvement
Respiratory failure requiring assisted ventilation
Extracranial internal carotid artery dissection
Slender long bones with narrow diaphyses
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
Cortical thickening of long bone diaphyses
Calcific stippling of infantile cartilaginous skeleton
Abnormalities of the cortex of hand bones
Mixed respiratory and metabolic acidosis
Acral ulceration leading to autoamputation of digits
Abnormality involving the epiphyses of the limbs
Chronic obstructive airway disease from birth
Malformation of the hepatic ductal plate
Congenital pseudarthrosis of the clavicle
Irregular ossification at anterior rib ends
Progressive calcification of costochondral cartilage
Polymorphic and polytopic ventricular extrasystoles
Aplasia/Hypoplasia involving bones of the thorax
Sensorimotor polyneuropathy affecting arms more than legs
Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
Decreased amplitude of sensory action potentials
Late-onset form of familial Alzheimer disease
Chaotic rapid conjugate ocular movements
Mixed demyelinating and axonal polyneuropathy
Atrophy/Degeneration affecting the central nervous system
Intermittent generalized erythematous papular rash
Decreased sweating due to autonomic dysfunction
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
Elevated serum transaminases during infections
Precocious puberty with Sertoli cell tumor
Abnormal iron deposition in mitochondria
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
Abnormal ossification involving the femoral head and neck
Aplasia/Hypoplasia involving bones of the skull
Osteolysis involving bones of the lower limbs
Abnormality of the vestibulocochlear nerve
Cerebellar ataxia associated with quadrupedal gait
Abnormality of the greater sacrosciatic notch
Paralysis due to lesions of the principle motor tracts
Abnormality of the cortex of the humerus
Patchy reduction of bone mineral density
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
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
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
Anomalous origin of one pulmonary artery from ascending aorta
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
Impaired arachidonic acid-induced platelet aggregation
Impaired thromboxane A2 agonist-induced platelet aggregation
Abnormal activity of mitochondrial respiratory chain
Abnormality of exocrine pancreas physiology
Abnormality of endocrine pancreas physiology
Abnormality of the fontanelles and cranial sutures
Inflexible adherence to routines or rituals
Insulin-resistant diabetes mellitus at puberty
Elevated imprint of the transverse sinuses
Abnormality of the posterior cranial fossa
Abnormality of the musculature of the lower limbs
Abnormality of the musculature of the upper limbs
Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet)
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
Abnormality of the spinocerebellar tracts
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
Enlargement of the proximal femoral epiphysis
Distal sensory impairment of all modalities
Foam cells with lamellar inclusion bodies
Soft-tissue ossification around the shoulders
Abnormality involving the epiphyses of the upper limbs
Bone-in-a-bone appearance of carpal bones
Osteoarthritis of the small joints of the hand
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
Aplasia/Hypoplasia of the capital femoral epiphysis
Cone-shaped epiphyses fused within their metaphyses
Anomalous origin of right pulmonary artery from ascending aorta
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
Enlarged sagittal diameter of the cervical canal
Delayed pneumatization of the mastoid process
Ventilator dependence with inability to wean
Premature fusion of phalangeal epiphyses
Flattened, squared-off epiphyses of tubular bones
Decreased movement range in interphalangeal joints
Increased density of long bone diaphyses
Abnormality of the pancreatic islet cells
Aplasia/Hypoplasia involving bones of the lower limbs
Aplasia/Hypoplasia involving bones of the upper limbs
Abnormality involving the epiphyses of the lower limbs
Thickening of the lateral border of the scapula
Ventricular preexcitation with multiple accessory pathways
Short chordae tendineae of the tricuspid valve
Early progressive calcific cardiac valvular disease
Abnormal aggressive, impulsive or violent behavior
Corticospinal tract disease in lower limbs
Generalized tonic-clonic seizures on awakening
Decreased distal sensory nerve action potential
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
Neonatal wrinkled skin of hands and feet
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
Increased red cell hemolysis by shear stress
Spinal cord posterior columns myelin loss
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
Decreased activity of mitochondrial respiratory chain
Loss of subcutaneous adipose tissue from upper limbs
Aplasia/Hypoplasia involving the femoral head and neck
Aplasia/Hypoplasia involving the musculature of the extremities
Synostosis involving bones of the lower limbs
Duplication of bones involving the upper extremities
Aplasia involving bones of the extremities
Fragmentation of the epiphyses 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
Ivory epiphyses of the phalanges of the hand
Small epiphyses of the phalanges of the hand
Triangular epiphyses of the phalanges of the hand
Ebstein's anomaly of the tricuspid valve
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
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
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
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
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
Abnormality of the dorsal column of the spinal cord
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
Short chordae tendineae of the mitral valve
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 left 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
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
Morphological abnormality of the pyramidal tracts
Tetralogy of Fallot with pulmonary atresia
Premature epimetaphyseal fusion in tibia
Premature epimetaphyseal fusion in fibula
Premature epimetaphyseal fusion in radius
Synostosis involving bones of the upper limbs
Stenosis of the medullary cavity of the long bones
Joint contractures involving the joints of the feet
Abnormality of the curvature of the cornea
Chronic hepatitis due to cryptospridium infection
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
Abnormality of the brainstem white matter
Pigment deposition in the trabecular meshwork
Delayed ossification of vertebral epiphysis
Abnormality of dorsoventral patterning of the limbs
Contractures of the joints of the upper limbs
Displacement of the external urethral meatus
Recurrent upper and lower respiratory tract infections
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
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
Hoarse voice (caused by tumor impingement)
Curved linear dimple below the lower lip
Impaired vibration sensation in the lower limbs
Increased proportion of HLA DR+ and CD57+ T cells
Abnormal delayed hypersensitivity skin test
Abnormality of the femoral neck and head region
Decreased number of peripheral myelinated nerve fibers
Reduced ratio of renal calcium clearance to creatinine clearance
Decreased beta-glucocerebrosidase protein and activity
Delayed upper limb epiphyseal ossification
Wide epiphyseal plates of the upper limbs
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
Cortical diaphyseal irregularity of the upper limbs
Cortical diaphyseal thickening of the upper limbs
Abnormality of the epiphyses of the elbow
Cortical thickening of the forearm bones
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
Erlenmeyer flask deformity of the femurs
Congenital hypertrophy of left ventricle
Premature calcification of mitral annulus
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
Posterior fusion of lumbosacral vertebrae
Abnormal vertebral segmentation and fusion
Generalized osteoporosis with pathologic fractures
Osteosclerosis of calvaria and base of the skull
Contractures of the joints of the lower limbs
Abnormalities of the metaphyses of the hand
Abnormality of the epiphyses of the hand
Abnormalities of the diaphyses of the hand
Aplasia/Hypoplasia involving bones of the hand
Hypermobility of distal interphalangeal joints
Metaphyseal cupping of proximal phalanges
Buried teeth encased in mucopolysaccharide
Disproportionate prominence of the femoral medial condyle
Aplasia/Hypoplasia involving bones of the feet
Intrahepatic cholestasis with episodic jaundice
Decreased number of sternal ossification centers
Transitional cell carcinoma of the bladder
Pallor of dorsal columns of the spinal cord
Developmental stagnation at onset of seizures
Symmetric spinal nerve root neurofibromas
Inability to walk by childhood/adolescence
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
Contractures involving the joints of the feet
Abnormality of the vertebral spinous processes
Aplasia/Hypoplasia of the fallopian tube
Impaired histidine renal tubular absorption
Delayed proximal femoral epiphyseal ossification
Progressive loss of facial adipose tissue
Mixed hypo- and hyperpigmentation of the skin
Deviation of the hand or of fingers of the hand
Projection of scalp hair onto lateral cheek
Synostosis involving bones of the fingers
Patchy sclerosis of the phalanges of the hand
Aplasia involving bones of the lower limbs
Aplasia involving bones of the upper limbs
Patchy sclerosis of the phalanges of the toes
Epiphyseal stippling of finger phalanges
Advanced pneumatization of cranial sinuses
Abnormality of the epiphyses of the feet
Extension of eyebrows towards upper eyelid
Abnormality of the temporomandibular joint
Abnormality of the intrahepatic bile duct
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
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
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
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
Supracardiac total anomalous pulmonary venous connection
Cardiac total anomalous pulmonary venous connection
Infracardiac total anomalous pulmonary venous connection
Mixed total anomalous pulmonary venous connection
Decreased activity of mitochondrial complex I
Decreased activity of mitochondrial complex III
Decreased activity of mitochondrial ATP synthase complex
Impaired ability to form peer relationships
Enlargement of the costochondral junction
Posterior fossa cyst at the fourth ventricle
Ulnar deviation of the hand or of fingers of the hand
EEG with irregular generalized spike and wave complexes
Aplasia/Hypoplasia involving the shoulder musculature
Amyotrophy involving the shoulder musculature
Aplasia/Hypoplasia involving the musculature of the upper arm
Vocal cord paralysis (caused by tumor impingement)
Degeneration of the lateral corticospinal tracts
Patchy demyelination of subcortical white matter
Right aortic arch with mirror image branching
Increased number of peripheral CD3+ T cells
Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors
Decreased number of large peripheral myelinated nerve fibers
Sclerosis with transverse striations in metaphyses of the upper limbs
Cortical irregularity of humeral diaphysis
Cortical thickening of humeral diaphysis
Abnormality of the joint spaces of the elbow
Irregular articular surfaces of the elbow joints
Sclerotic foci of metaphyses of the elbow
Sclerotic radial metaphysis with longitudinal striations
Dysharmonic maturation of the hand bones
Sclerosis of hand bones with transverse striations
Anterior beaking of lower thoracic vertebrae
Thickening of the glomerular basement membrane
Posterior scalloping of vertebral bodies
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
Absent ossification of cervical and thoracic vertebral bodies
Aplasia/Hypoplasia involving the metacarpal bones
Abnormality of the epiphyses of the phalanges of the hand
Swan neck-like deformities of the fingers
Metaphyseal abnormalities of distal and proximal femurs
Aplasia/Hypoplasia involving the carpal bones
Reduced number of intrahepatic bile ducts
Diffuse demyelination of the cerebral white matter
Irregular loops and focal folding of myelin sheaths
Spinocerebellar tract disease in lower limbs
Decreased number of small peripheral myelinated nerve fibers
Severe demyelination of the white matter
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
Absent pigmentation of the ventral chest
Mediosternal, longitudinal streak of hypopigmentation
Aplasia cutis congenita over posterior parietal area
Nonarteritic anterior ischemic optic neuropathy
Central retinal vessel vascular tortuosity
Neovascularization of peripheral and posterior retina
Abnormal distribution of retinal arterioles and venules
Abnormality of the fifth metatarsal bone
Expanded metatarsals with widened medullary cavities
Abnormal rod and cone electroretinograms
Progressive cervical vertebral spine fusion
Absent spinous processes of lower thoracic and lumbar vertebrae
Uric acid urolithiasis independent of gout
Loss of ability to walk in early childhood
Weakness of long finger extensor muscles
Aplasia/Hypoplasia of the frontal sinuses
Fragmentation of the metacarpal epiphyses
Osteolytic defects of the phalanges of the 3rd finger
Radial deviation of the hand or of fingers of the hand
Osteolytic defects of the phalanges of the 2nd finger
Osteolytic defects of the phalanges of the thumb
Osteolytic defects of the phalanges of the hand
Abnormality of the epiphyses of the toes
Abnormality of the 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 epiphysis of the femoral head
Abnormality of the distal femoral epiphysis
Abnormality of the proximal fibular epiphysis
Abnormality of the distal fibular epiphysis
Abnormality of the third metatarsal bone
EEG with spike-wave complexes (2.5-3.5 Hz)
EEG with periodic lateralized epileptiform discharges
Uni- and bilateral multifocal epileptiform discharges
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
EEG with centrotemporal focal spike waves
Fusiform descending thoracic aortic aneurysm
Saccular descending thoracic aortic aneurysm
Palpebral fissure narrowing on adduction
Absent dorsal skin creases over affected joints
Delayed closure of the anterior fontanelle
Abnormality of the cerebral white matter
Abnormality of the periventricular white matter
Negative nitroblue tetrazolium (NBT) reduction test
Advanced ossification of the humeral epiphysis
Stippled calcification of the humeral epiphyses
Abnormality of the humeral epiphyseal plate
Cortical subperiosteal resorption (humeral metaphyses)
Stippled calcification of humeral metaphysis
Ground glass opacity of humeral diaphysis
Premature fusion of the radial epiphyseal plates
Abnormality of the phalanges of the 5th finger
Subluxation of metacarpal phalangeal joints
hump-shaped mound of bone in central and posterior portions of vertebral endplate
Femoral bowing present at birth, straightening with time
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
1-5 finger complete cutaneous syndactyly
Expanded metacarpals with widened medullary cavities
Abnormality of phalangeal joints of the hand
Abnormality of the epiphyses of the 2nd finger
Peg-like central prominence of distal tibial metaphyses
Enlargement of the distal femoral epiphysis
Multicentric ossification of proximal femoral epiphyses
Lateral displacement of the femoral head
Facial palsy secondary to cranial hyperostosis
Aplasia/Hypoplasia of the corpus callosum
Atrophy/Degeneration of the corpus callosum
Discrete 2 to 5-mm hyper- and hypopigmented macules
Congenital hypertrophy of retinal pigment epithelium
Decreased retinal pigmentation with dispersion
Absent rod-and cone-mediated responses on ERG
Butterfly retinal pigment epithelial dystrophy
Macular retinal pigment epithelial mottling
Depigmented lesions of the retinal pigment epithelium
Absent in utero ossification of vertebral bodies
Early ossification of capital femoral epiphyses
Absent ossification of capital femoral epiphysis
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
Abnormality of the epiphyses of the thumb
Abnormality of the phalanges of the thumb
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 epiphysis 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
Abnormality of the epiphyses of the hallux
Abnormality of the phalanges of the hallux
Osteolytic defects of the 1st metatarsal
Cone-shaped epiphysis of the 1st metatarsal
Aplasia/Hypoplasia of the phalanges of the toes
Osteolytic defects 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 proximal phalanges of the toes
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
Pseudoepiphyses of the phalanges of the hand
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 proximal tibial epiphysis
Abnormality of the distal tibial 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
Abnormality of permanent molar morphology
Macrodontia of permanent maxillary central incisor
Pointed proximal second through fifth metacarpals
Dense calcifications in the cerebellar dentate nucleus
Sclerotic humeral metaphysis with longitudinal striations
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
Absent trapezium/absent ossification of the trapezium
Delayed ossification of the trapezoid bone
Subluxation of the small joints of the hand
Multicentric ossification of proximal humeral epiphyses
Partial fusion of proximal row of carpal bones
Easily subluxated first metacarpophalangeal joints
Disproportionate shortening of the tibia
Reduced proximal interphalangeal joint space
Soft tissue swelling of interphalangeal joints
Two carpal ossification centers present at birth
Partial-complete absence of 5th phalanges
Thin proximal phalanges with broad epiphyses
Single interphalangeal crease of fifth finger
Limited mobility of proximal interphalangeal joint
Swelling of proximal interphalangeal joints
Marked delay in eruption of permanent teeth
White mater abnormalities in the posterior periventricular region
Multifocal cerebral white matter abnormalities
Hypointensity of cerebral white matter on MRI
Hyperintense lesions in the basal ganglia on MRI
Diffuse swelling of cerebral white matter
Palmoplantar keratosis with erythema and scale
Patchy atrophy of the retinal pigment epithelium
Juvenile posterior subcapsular lenticular opacities
Narrow anterio-posterior vertebral body diameter
Stippled calcification proximal humeral epiphyses
Abnormality of the proximal phalanx of the 5th finger
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
Triangular shaped phalanges of the thumb
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
Aplasia of the 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
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
Aplasia/Hypoplasia of the 1st metacarpal
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
Patchy sclerosis of the phalanges of the hallux
Symphalangism affecting the phalanges of the hallux
Triangular shaped phalanges 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
Aplasia/Hypoplasia of the distal phalanges of the toes
Bullet-shaped 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
Bullet-shaped 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 the proximal phalanges of the toes
Bullet-shaped proximal phalanges of the toes
Osteolytic defects of the proximal phalanges of the toes
Symphalangism affecting the proximal phalanges of the toes
Triangular shaped proximal phalanges of the toes
Aplasia of the middle phalanx of the hand
Aplasia of the proximal 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
Patchy sclerosis 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
Patchy sclerosis 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
Patchy sclerosis 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
Patchy sclerosis 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
Aplasia/Hypoplasia of the palmar creases
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
Hypothalamic luteinizing hormone-releasing hormone deficiency
Aplasia/Hypoplasia of the cerebral white matter
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
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
Symphalangism of the proximal phalanx of the hallux with the 1st metatarsal
Sclerosis of the distal phalanges of the hand
Sclerosis of the middle phalanges of the hand
Sclerosis of the proximal phalanges of the hand
Sclerosis of the phalanges of the 2nd finger
Sclerosis of the phalanges of the 3rd finger
Sclerosis of the phalanges of the 4th finger
Sclerosis of the phalanges of the 5th finger
Sclerosis of the phalanges of the 2nd toe
Sclerosis of the phalanges of the 3rd toe
Sclerosis of the phalanges of the 4th toe
Sclerosis of the phalanges of the 5th toe
Sclerosis of the phalanges of the hallux
Sclerosis of the proximal phalanges of the toes
Sclerosis of the middle phalanges of the toes
Sclerosis of the distal phalanges of the toes
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/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
Acroosteolysis of distal phalanges (feet)
Eye of the tiger anomaly of globus pallidus
Hypoplasia of the capital femoral epiphysis
Abnormality of the epiphysis of the middle phalanx of the 5th finger
Decreased anterioposterior diameter of lumbar vertebral bodies
Fifth finger distal phalanx clinodactyly
Absent fourth finger distal interphalangeal crease
Cone-shaped epiphyses of phalanges 2 to 5
Short metacarpals with rounded proximal ends
Tapering pointed ends of distal finger phalanges
Osteoarthritis of the first carpometacarpal joint
Osteoarthritis of the distal interphalangeal joint
Shortening of all middle phalanges of the toes
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
Bilateral single transverse palmar creases
2nd-5th toe middle phalangeal hypoplasia
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
Aplasia of the proximal phalanx of the 5th finger
Short proximal 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
Aplasia of the 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
Aplasia 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 of the proximal 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
Short 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
Patchy sclerosis of the phalanges of the 5th finger
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
Patchy sclerosis of the phalanges of the 4th finger
Fragmentation of the epiphyses of the 3rd finger
Stippling of the epiphyses 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
Aplasia of the 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
Patchy sclerosis of the phalanges 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
Aplasia of the proximal phalanx of the 3rd finger
Short 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
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
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
Patchy sclerosis of the phalanges 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
Aplasia of the 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
Aplasia of the proximal phalanx of the 2nd finger
Short 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 defects of the proximal phalanx of the thumb
Symphalangism of proximal phalanx of  thumb
Triangular shaped proximal phalanx of the thumb
Symphalangism of the proximal phalanx of the thumb with the 1st metatcarpal
Bullet-shaped distal phalanx of the thumb
Osteolytic defects of the distal phalanx of the thumb
Triangular shaped distal phalanx of the thumb
Patchy sclerosis of the phalanges 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
Fragmentation of the epiphyses of the thumb
Patchy sclerosis of the distal phalanges of the hand
Patchy sclerosis of the middle phalanges of the hand
Patchy sclerosis of the proximal phalanges of the hand
Complete duplication of the phalanges of the thumb
Partial duplication of the phalanges of the thumb
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 1st metatarsal
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
Complete duplication of the phalanges of the hallux
Partial duplication of the phalanges 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
Patchy sclerosis of the distal phalanges of the toes
Patchy sclerosis of the middle phalanges of the toes
Patchy sclerosis of the proximal phalanges of the toes
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
Ivory 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
Ivory 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
Ivory 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
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
Hypersegmentation of proximal phalanx of third finger
Abnormality of the superior cerebellar peduncle
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
Rudimentary postaxial polydactyly of hands
Dysplastic distal thumb phalanges with a central hole
Shortening of all distal phalanges of the toes
Radial deviation of thumb terminal phalanx
Rhomboid or triangular shaped 5th finger middle phalanx
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
Aplasia of the inferior half of the cerebellar vermis
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
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
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
Rhomboid or triangular shaped 5th finger proximal phalanx
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
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
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
Rhomboid or triangular shaped 5th finger distal phalanx
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
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
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/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
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
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
Contractures of the distal interphalangeal joints of the fingers
Contractures of the proximal 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
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
Complete duplication of the 1st metatarsal
Partial duplication of the 1st metatarsal
Aplasia of the distal phalanx of the hallux
Aplasia of the proximal phalanx of the hallux
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
Aplasia of the proximal phalanx of the 2nd toe
Agenesis of primary maxillary lateral incisor
Agenesis of permanent maxillary lateral incisor
Aplasia of the distal phalanx of the 4th toe
Aplasia of the distal phalanx 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
Contractures of the proximal interphalangeal joint of the 2nd toe
Contractures of the proximal interphalangeal joint of the 3rd toe
Contractures of the proximal interphalangeal joint of the 4th toe
Contractures of the proximal interphalangeal joint of the 5th toe
Contractures of the distal interphalangeal joint of the 2nd toe
Contractures of the distal interphalangeal joint of the 3rd toe
Contractures of the distal interphalangeal joint of the 4th toe
Contractures of the distal interphalangeal joint of the 5th toe
Contractures of the metatarsophalangeal joint of the 2nd toe
Contractures of the metatarsophalangeal joint of the 3rd toe
Contractures of the metatarsophalangeal joint of the 4th toe
Contractures of the metatarsophalangeal joint of the 5th toe
Expanded phalanges with widened medullary cavities
Contractures of the tarsometatarsal joint of the hallux
Contractures of the interphalangeal joint of the hallux
Contractures of the metatarsophalangeal joint of the hallux
Agenesis of permanent maxillary central incisor
Agenesis of primary maxillary central incisor
Agenesis of primary mandibular central incisor
Agenesis of permanent mandibular central incisor