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| Hypoplastic philtrum
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| Metaphyseal sclerosis
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| Midface prominence
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| Abnormal eye morphology
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| Abnormal eye physiology
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| Abnormality of the globe
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| Chemosis
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| Microphakia
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| Hemianopsia
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| Pulmonary artery hypoplasia
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| Ascending aortic dilation
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| Elevated mean arterial pressure
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| Erlenmeyer flask deformity of the femurs
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| Coarctation of abdominal aorta
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| Bilateral radial aplasia
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| Knee dislocation
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| Stippling of the epiphysis of the middle phalanx of the 4th toe
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| Abnormality of the middle phalanges of the hand
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| Abnormality of the distal phalanx of finger
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| Mononeuropathy
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| Peripheral neuropathy
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| Bullet-shaped distal phalanges of the hand
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| Broad distal phalanx of finger
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| Aplasia/Hypoplasia of the distal phalanges of the hand
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| Abnormality of the proximal phalanges of the hand
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| Osteolytic defects of the distal phalanges of the hand
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| Curved distal phalanges of the hand
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| Juvenile colonic polyposis
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| Cluster headache
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| Episodic hemiplegia
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| Irregular respiration
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| Cheyne-Stokes respiration
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| Insulinoma
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| T-cell lymphoma
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| B-cell lymphoma
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| Cutaneous T-cell lymphoma
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| Anaplastic large-cell lymphoma
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| Olivary degeneration
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| Dermatan sulfate excretion in urine
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| Abnormality of fatty-acid metabolism
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| Abnormality of superoxide metabolism
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| Exercise-induced myoglobinuria
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| Abnormality of proteoglycan metabolism
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| Abnormality of carboxylic acid metabolism
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| Abnormality of leucine metabolism
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| Abnormality of lysosomal metabolism
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| Abnormal foot bone ossification
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| Abnormality of pyrimidine metabolism
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| Abnormality of purine metabolism
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| Cerebral white matter agenesis
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| Narrow nail
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| Fused nails
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| Sydney crease
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| Bridged palmar crease
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| Right unicoronal synostosis
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| Left unicoronal synostosis
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| Unicoronal synostosis
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| Abnormality of long bone morphology
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| Bilambdoid synostosis
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| Bicoronal synostosis
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| Aplasia of metacarpal bones
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| Short metacarpal
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| Short 4th metacarpal
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| Aplasia/Hypoplasia of the 5th metacarpal
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| Aplasia of the 5th metacarpal
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| Short 5th metacarpal
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| Aplasia of the 3rd metacarpal
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| Short 3rd metacarpal
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| Aplasia/Hypoplasia of the 4th metacarpal
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| Aplasia of the 4th metacarpal
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| 1-3 toe syndactyly
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| Y-linked inheritance
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| Upper lip pit
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| Autosomal dominant contiguous gene syndrome
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| Asynergia
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| Abnormality of the upper arm
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| Abnormality of the musculature of the upper arm
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| Absent epiphyses of the proximal phalanges of the hand
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| Bracket epiphyses of the proximal phalanges of the hand
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| Abnormality of the proximal humeral epiphysis
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| Abnormality of the distal humeral epiphysis
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| Enlarged epiphyses of the middle phalanges of the hand
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| Fragmentation of the epiphyses of the middle phalanges of the hand
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| Irregular epiphyses of the middle phalanges of the hand
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| Ivory epiphyses of the middle phalanges of the hand
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| Pseudoepiphyses of the middle phalanges of the hand
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| Small epiphyses of the middle phalanges of the hand
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| Stippling of the epiphyses of the middle phalanges of the hand
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| Triangular epiphyses of the middle phalanges of the hand
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| Paramedian lip pit
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| Triangular shaped middle phalanx of the 4th finger
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| Symphalangism of middle phalanx of 4th finger
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| Distal/middle symphalangism of 4th finger
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| Telecanthus
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| Patchy sclerosis of the middle phalanx of the 4th finger
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| Triangular shaped distal phalanx of the 4th finger
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| Short proximal phalanx of the 4th finger
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| Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
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| Osteolytic defects of the distal phalanx of the 4th finger
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| Bullet-shaped distal phalanx of the 4th finger
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