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| Macrogyria
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| Intracerebral periventricular calcifications
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| Aortopulmonary window
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| Olivopontocerebellar atrophy
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| Inability to walk
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| Transposition of the great arteries with intact ventricular septum
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| Incomprehensible speech
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| Retrocollis
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| Patchy demyelination of subcortical white matter
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| Parkinsonism with favorable response to dopaminergic medication
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| Deficit in phonologic short-term memory
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| Progressive cone degeneration
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| Horizontal opticokinetic nystagmus
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| Congenital nuclear cataract
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| Cystoid macular degeneration
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| Periodic paralysis
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| Abnormality of the elbow metaphyses
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| Irregular epiphyses of the elbow
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| Calcinosis
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| Percussion-induced rapid rolling muscle contractions (PIRC)
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| Delayed elbow epiphyseal ossification
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| Uterus didelphys
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| Psoriasis
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| Nevus
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| Abnormality of the joint spaces of the elbow
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| Synovial chondromatosis of the elbow
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| Profuse pigmented skin lesions
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| Hyperpigmentation in sun-exposed areas
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| Spotty hyperpigmentation
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| Tubular basement membrane disintegration
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| Widened, small sacrosciatic notches
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| Lytic defects of carpal bones
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| Proximally placed carpal bones
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| Necrotizing myopathy
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| Accessory carpal bones
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| Advanced ossification of carpal bones
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| Subluxation of the proximal interphalangeal joint of the little finger
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| Duplication of renal pelvis
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| Irregular carpal bones
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| Large carpal bones
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| Bone-in-a-bone appearance of carpal bones
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| Comma-shaped carpal bones
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| Cone-shaped epiphysis of the distal phalanx of the 5th toe
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| Enlarged epiphysis of the distal phalanx of the 5th toe
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| Fragmentation of the epiphysis of the distal phalanx of the 5th toe
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| Irregular epiphysis of the distal phalanx of the 5th toe
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| Reduced factor IX activity
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| Punctate keratitis
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| Absent epiphysis of the distal phalanx of the 5th toe
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| Bracket epiphysis of the distal phalanx of the 5th toe
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| Hemoperitoneum
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| Pharyngeal edema
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| Pica
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| Plasmacytoma
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| Parotitis
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| Hemopericardium
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| Chylopericardium
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| Serous pericardial effusion
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| Self-biting
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| Short thumb
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| 3-4 toe syndactyly
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| Triangular shaped phalanges of the hand
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| Amniotic constriction ring
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| Adactyly
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| Absent thumb
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| Curved phalanges of the hand
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| Osteolytic defects of the phalanges of the hand
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| Patchy sclerosis of finger phalanx
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| Symphalangism affecting the phalanges of the hand
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| Slender proximal phalanx of finger
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| Slender distal phalanx of finger
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| Tragal bridge of crus of helix
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| Reticular retinal dystrophy
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| Nonprogressive congenital retinal dystrophy
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| Congenital bilateral ptosis
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| Small anterior lens surface opacities
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| Tractional retinal detachment
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| Polymorphous posterior corneal dystrophy
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| Irregular epiphysis of the middle phalanx of the 2nd finger
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| Ivory epiphysis of the middle phalanx of the 2nd finger
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| Small epiphysis of the distal phalanx of the 2nd finger
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| Stippling of the epiphysis of the distal phalanx of the 2nd finger
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| Triangular epiphysis of the distal phalanx of the 2nd finger
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| Absent epiphysis of the middle phalanx of the 2nd finger
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| Bracket epiphysis of the middle phalanx of the 2nd finger
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| Cone-shaped epiphysis of the middle phalanx of the 2nd finger
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| Enlarged epiphysis of the middle phalanx of the 2nd finger
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| Fragmentation of the epiphysis of the middle phalanx of the 2nd finger
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| Elevated aldolase level
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| Short hallux
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| Partial duplication of the phalanges of the hallux
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| Complete duplication of hallux phalanx
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| Short distal phalanx of hallux
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| Aplasia of the distal phalanx of the hallux
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| Short first metatarsal
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| Absent first metatarsal
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| Short proximal phalanx of hallux
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| Aplasia of the proximal phalanx of the hallux
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| Long distal phalanx of finger
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| Long middle phalanx of finger
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