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| Hypoglycinemia
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| Digital flexor tenosynovitis
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| Slow progression
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| Progressive disorder
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| Increased IgG level
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| Impaired platelet aggregation
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| Hypermethioninemia
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| Decreased plasma carnitine
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| Hypoalphalipoproteinemia
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| Mitochondrial malic enzyme reduced
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| Shoulder girdle muscle weakness
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| Exercise intolerance
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| Abnormality of connective tissue
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| Subsarcolemmal accumulations of abnormally shaped mitochondria
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| Chin with vertical crease
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| Phosphoethanolaminuria
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| Hyperpepsinogenemia I
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| Saccular descending thoracic aortic aneurysm
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| Fusiform descending thoracic aortic aneurysm
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| Sinoatrial block
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| Heart block
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| Venous malformation
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| Neoplasm of the nose
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| Thoracic aortic aneurysm
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| Episodic hypokalemia
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| Cutaneous syndactyly
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| Upper eyelid edema
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| Drug-induced agranulocytosis
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| Progressive conductive hearing impairment
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| Urocanic aciduria
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| Elevated sweat chloride
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| Exudative retinal detachment
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| Rhegmatogenous retinal detachment
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| Intramuscular hematoma
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| Supraauricular pit
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| Tall chin
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| Atransferrinemia
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| Unilateral external ear deformity
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| Optic atrophy from cranial nerve compression
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| Trichorrhexis nodosa
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| Jejunal atresia
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| Abnormality of hair pigmentation
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| Tapered distal phalanges of finger
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| Prenatal short stature
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| Short distal phalanx of finger
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| Duplication of the distal phalanx of hand
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| Premature fusion of the radial epiphyseal plates
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| Joint dislocations in young adult
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| Small radial epiphyses
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| External ear malformation
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| Cupped radial metaphyses
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| Exostoses of the radial metaphysis
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| Broad radial epiphyseal plate
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| Abnormality of radial metaphyses
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| Flared radial metaphyses
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| Irregular radial metaphysis
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| Degeneration of the lateral corticospinal tracts
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| Thumbs hypo/aplastic
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| Dysharmonic delayed bone age
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| CNS infection
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| Congenital microcephaly
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| Functional abnormality of the middle ear
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| Abnormality of the incus
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| Complete duplication of phalanx of hand
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| Type B brachydactyly
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| Absent stapes
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| Loss of eyelashes
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| Partial duplication of the distal phalanx of the 5th finger
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| Partial duplication of the middle phalanx of the 5th finger
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| Partial duplication of the proximal phalanx of the 5th finger
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| Flexion contracture of toe
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| Duplication of the proximal phalanx of the 5th finger
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| Complete duplication of the distal phalanx of the 5th finger
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| Complete duplication of the middle phalanx of the 5th finger
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| Complete duplication of the proximal phalanx of the 5th finger
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| Congenital Horner syndrome
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| Developmental stagnation at onset of seizures
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| Curved distal phalanx of the 5th toe
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| Transient hypophosphatemia
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| Sclerosis of the middle phalanx of the 4th finger
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| Muscular hypotonia of the trunk
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| Osteolytic defects of the middle phalanx of the 4th toe
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| Small epiphyses of the metacarpals
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| Exostoses of hand bones
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| Absent metacarpal epiphyses
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| Bracket epiphysis of the proximal phalanx of the 5th finger
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| Irregular epiphyses of the metacarpals
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| Ivory epiphyses of the metacarpals
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| Aplasia/Hypoplasia of the proximal phalanx of the 5th finger
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| Fractured hand bones
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| Discrete intestinal polyps
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| Abnormality of the epiphysis of the distal phalanx of the 5th finger
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| Deficient ossification of hand bones
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| Sclerosis of the distal phalanx of the 4th finger
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| Nonketotic hyperglycinemia
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| Sclerosis of the distal phalanx of the 3rd finger
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| Anonychia
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| Short nail
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| Cortical thinning of hand bones
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| Hyperconvex nail
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