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| Radial deviation of the thumb
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| EEG with spike-wave complexes (>3.5 Hz)
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| Congenital neutropenia
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| Megakaryocytopenia
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| Deviation of the 4th toe
-
| Reduced protein C activity
-
| Prolonged whole-blood clotting time
-
| Congenital agranulocytosis
-
| Red blood cell keratocytosis
-
| Myeloproliferative disorder
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| Increased red cell osmotic resistance
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| Avascular necrosis of the capital femoral epiphysis
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| Biliary tract neoplasm
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| Prominent digit pad
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| Partial absence of finger
-
| Reduced CSF dopamine level
-
| Elevated CSF dopamine level
-
| Abnormal CSF dopamine level
-
| Nephrotic range proteinuria
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| Radial deviation of thumb terminal phalanx
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| Double first metacarpals
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| Abnormality of the aortic valve
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| Congenital foot contractures
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| Progressive forearm bowing
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| Hyperostosis cranialis interna
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| Pulmonic stenosis
-
| Proximal tibial and fibular fusion
-
| Localized epidermolytic hyperkeratosis
-
| Perisylvian polymicrogyria
-
| Cor pulmonale
-
| Tachycardia
-
| Deep anterior chamber
-
| Optic disc hypoplasia
-
| Pericentral scotoma
-
| Crystalline corneal dystrophy
-
| Retinal telangiectasia
-
| Waddling gait
-
| Peripheral retinal degeneration
-
| Central retinal vessel vascular tortuosity
-
| Cerebral calcification
-
| Generalized osteoporosis with pathologic fractures
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| Intractable diarrhea
-
| Esophageal varix
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| Malignant hyperthermia
-
| Progressive forgetfulness
-
| Delayed phalangeal epiphyseal ossification
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| Brain stem compression
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| Esophageal stricture
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| Cuboidal metacarpal
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| Widened metacarpal shaft
-
| Increased intracranial pressure
-
| Hypnagogic hallucinations
-
| Abnormality of the periventricular white matter
-
| Narrow vertebral interpedicular distance
-
| Abnormal brain FDG positron emission tomography
-
| Reduced proximal interphalangeal joint space
-
| Proximal renal tubular acidosis
-
| Renal cortical atrophy
-
| Limited knee extension
-
| Linear arrays of macular hyperkeratoses in flexural areas
-
| Focal friction-related palmoplantar hyperkeratosis
-
| Epidermal hyperkeratosis
-
| Prematurely aged appearance
-
| Discrete 2 to 5-mm hyper- and hypopigmented macules
-
| Moderate proteinuria
-
| Recurrent staphylococcal infections
-
| Absent pigmentation of the ventral chest
-
| Osteosclerosis of the base of the skull
-
| Bifid nose
-
| Hamartoma of tongue
-
| Enlargement of parotid gland
-
| Midface retrusion
-
| Type 1 muscle fiber atrophy
-
| Abnormality of muscle morphology
-
| Abnormality of muscle physiology
-
| Paradoxical myotonia
-
| Decreased patellar reflex
-
| Primum atrial septal defect
-
| Ivory epiphysis of the middle phalanx of the 5th finger
-
| Bullet-shaped middle phalanx of the 4th toe
-
| Postaxial polydactyly
-
| Preaxial polydactyly
-
| Abnormality of the medullary cavity of the long bones
-
| Diaphyseal dysplasia
-
| Lipomas of the central neryous system
-
| Meningeal calcification
-
| Ectrodactyly
-
| Senile plaques
-
| Metaphyseal dysplasia
-
| Stenosis of the medullary cavity of the long bones
-
| Type I transferrin isoform profile
-
| Sulfite oxidase deficiency
-
| Foam cells in visceral organs and CNS
-
| Internal ophthalmoplegia
-
| Bicarbonaturia
-
| Electron transfer flavoprotein-ubiquinone oxidoreductase defect
-
| Pericentral retinitis pigmentosa
-
| Unilateral narrow palpebral fissure
-
| Progressive macular scarring
-
| Dense posterior cortical cataract
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