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| Small epiphysis of the middle phalanx of the 4th toe
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| Bullet-shaped middle phalanx of the 3rd toe
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| Broad distal phalanx of the 5th toe
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| Aplasia of the vestibule
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| Distal upper limb amyotrophy
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| Broad distal phalanx of the 3rd toe
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| Sensorimotor neuropathy
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| Nonarteritic anterior ischemic optic neuropathy
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| Bilateral microphthalmos
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| Bilateral basal ganglia lesions
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| Osteosarcoma
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| Paraganglioma
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| Delayed epiphyseal ossification
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| Painless fractures due to injury
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| Nephroblastoma (Wilms tumor)
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| Pheochromocytoma
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| Lymphoma
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| Neoplasm
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| Tricuspid valve prolapse
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| Stillbirth
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| Gowers sign
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| First dorsal interossei muscle weakness
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| Thenar muscle atrophy
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| Muscle cramps
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| Ivory epiphyses of the 4th toe
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| Syringomyelia
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| Generalized hypotonia due to defect at the neuromuscular junction
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| Abnormality of the neuromuscular junction
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| Variable expressivity
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| Incomplete penetrance
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| Cardiovascular calcification
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| Thoracic hypertrichosis
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| Short 5th toe
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| Toe extensor amyotrophy
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| Abnormality of metacarpophalangeal joint
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| Shortening of all phalanges of fingers
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| Lumbar hypertrichosis
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| Abnormality of the glenoid fossa
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| Pleural empyema
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| Clinodactyly of the 4th toe
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| Abnormality of cellular immune system
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| Elliptocytosis
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| Spherocytosis
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| Poikilocytosis
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| Stomatocytosis
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| Coronal craniosynostosis
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| Lambdoidal craniosynostosis
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| Sagittal craniosynostosis
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| Fulminant hepatic failure
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| Reduced xanthine dehydrogenase activity
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| Infantile encephalopathy
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| Decreased fumarate hydratase activity
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| Hypouricemia
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| Glutaric acidemia
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| Ornithinuria
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| Delayed oxidation of acetaldehyde
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| Palmar pits
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| Increased serum iduronate sulfatase activity
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| Absent epiphysis of the distal phalanx of the thumb
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| Triangular epiphysis of the proximal phalanx of the thumb
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| Cone-shaped epiphysis of the distal phalanx of the thumb
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| Bracket epiphysis of the distal phalanx of the thumb
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| Pseudoepiphysis of the proximal phalanx of the thumb
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| Ivory epiphysis of the proximal phalanx of the thumb
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| Stippling of the epiphysis of the proximal phalanx of the thumb
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| Small epiphysis of the proximal phalanx of the thumb
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| Fragmentation of the epiphysis of the distal phalanx of the thumb
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| Enlarged epiphysis of the distal phalanx of the thumb
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| Enlarged vertebral pedicles
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| Progressive intervertebral space narrowing
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| Biconvex vertebral bodies
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| Lumbar scoliosis
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| Small cervical vertebral bodies
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| Cone-shaped epiphyses of the 4th toe
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| Congenital horizontal nystagmus
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| Chorioretinal lacunae
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| Pericentral pigmentary retinopathy
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| Temporal displacement of maculae
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| Retinal vascular proliferation
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| Punctate opacification of the cornea
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| Glaucomatous visual field defect
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| Bullet-shaped proximal phalanx of the 3rd finger
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| Broad proximal phalanx of the 3rd finger
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| Osteolytic defects of the proximal phalanx of the 3rd finger
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| Curved proximal phalanx of the 3rd finger
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| Symphalangism affecting the proximal phalanx of the 3rd finger
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| Patchy sclerosis of the proximal phalanx of the 3rd finger
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| Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
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| Triangular shaped proximal phalanx of the 3rd finger
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| Short proximal phalanx of the 3rd finger
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| Aplasia of the proximal phalanx of the 3rd finger
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| Uplifted earlobe
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| Anterior creases of earlobe
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| Angiofibromas
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| Inferior mesenteric artery aneurysm
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| Aplasia of the femoral head
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| Aplasia of the femoral neck
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| Large eyes
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| Aplasia/Hypoplasia of the tibia
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| Autoimmune hypoparathyroidism
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