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| Gastroparesis
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| Retinal arteritis
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| Posterior Y-sutural cataract
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| Congenital exotropia
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| Abnormal iris pigmentation
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| Retinitis pigmentosa inversa
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| Retinal pigmentary dystrophy
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| Absent anterior eye chamber
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| Aplastic/hypoplastic lacrimal glands
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| Subepithelial corneal opacities
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| Abnormality of neutrophil morphology
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| Sclerotic foci of metaphyses of the elbow
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| Absent forearm bone
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| Flared metaphyses (elbow)
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| Irregular metaphyses (elbow)
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| Bowed forearm bones
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| Cortical thickening of the forearm bones
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| Multiple cutaneous leiomyomas
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| Bone-in-a-bone appearance (forearm)
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| Generalized keratosis follicularis
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| Mottled pigmentation of the trunk and proximal extremities
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| Stage 5 chronic kidney disease
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| Deformed forearm bones
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| Spotty hypopigmentation
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| Enlarged metaphyses
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| Calf muscle hypoplasia
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| Tibialis muscle weakness
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| Exercise-induced muscle stiffness
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| Clinodactyly of the 5th finger
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| Cone-shaped capital femoral epiphysis
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| Abnormality of the 5th finger
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| Wide capital femoral epiphyses
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| Delayed ossification of pubic rami
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| Short proximal phalanx of the ring finger
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| Lytic defects of the proximal phalanx of the ring finger
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| Expanded proximal phalanx of the ring finger
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| Mucosal telangiectasiae
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| Giant melanosomes in melanocytes
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| Abnormal appendicular skeleton morphology
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| Lester's sign
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| Iliac horns
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| Biceps aplasia
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| Aplasia/Hypoplasia of the biceps
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| Triceps aplasia
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| Aplasia/Hypoplasia of the triceps
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| Aplasia/Hypoplasia of the quadriceps
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| Aplasia/Hypoplasia of the musculature of the thigh
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| Perianal abscess
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| Quadriceps aplasia
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| Bilateral camptodactyly
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| Accelerated skeletal maturation
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| Stippled calcification of the humeral epiphyses
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| Hyperpigmented nevi
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| Aplasia/hypoplasia of the femur
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| Broad humeral epiphyses
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| Arthrogryposis-like hand anomaly
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| Lacrimal duct aplasia
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| Epiphyseal stippling of the humerus
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| Foveal hyperplasia
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| Hypermyelinated retinal fibers
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| Congenital chorioretinal dystrophy
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| Peripheral retinal detachment
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| Abnormal flash visual evoked potentials
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| Broad middle phalanx of the 2nd finger
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| Abnormality of the humeral metaphyses
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| Aplasia of the distal phalanx of the 2nd finger
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| Triangular shaped distal phalanx of the 2nd finger
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| Short distal phalanx of the 2nd finger
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| Osteolytic defects of the distal phalanx of the 2nd finger
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| Curved distal phalanx of the 2nd finger
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| Distal/middle symphalangism of 2nd finger
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| Patchy sclerosis of the distal phalanx of the 2nd finger
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| Cortical subperiosteal resorption (humeral metaphyses)
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| Peripheral vitreoretinal degeneration
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| Corner spurs (humeral metaphyses)
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| Macular schisis
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| Irregular epiphyses of the hallux
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| Ivory epiphyses of the hallux
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| Enlarged epiphyses of the hallux
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| Fragmentation of the epiphyses of the hallux
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| Bracket epiphyses of the hallux
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| Cone-shaped epiphyses of the hallux
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| Mesoaxial foot polydactyly
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| Absent hallux epiphysis
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| Aplasia of the phalanges of the hallux
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| Short phalanx of hallux
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| Hyperpigmentation of the fundus
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| Abnormal stereopsis
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| Abnormality of binocular vision
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| Type III truncus arteriosus
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| Cone monochromacy
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| Congenitally corrected transposition of the great arteries with ventricular septal defect
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| Unilateral ulnar hypoplasia
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| Transposition of the great arteries with ventricular septal defect
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| Rod monochromacy
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| Rightward direction of ventricular apex
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| Abnormal direction of ventricular apex
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| Congenital malformation of the great arteries
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| Midline direction of ventricular apex
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| Cephalocele
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