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| Impaired vibration sensation in the lower limbs
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| Neurological speech impairment
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| Hyperammonemia
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| Decreased glucosephosphate isomerase activity
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| Hypobetalipoproteinemia
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| Abnormal metaphyseal vascular invasion
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| Birth length less than 3rd percentile
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| Muscular dystrophy
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| Increased serum prostaglandin E2
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| Elevated erythrocyte sedimentation rate
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| Folate-dependent fragile site at Xq28
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| Intolerance to protein
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| Reduced lymphocyte surface expression of CD43 (sialophorin)
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| Sea-blue histiocytosis
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| Focal T2 hypointense brainstem lesion
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| Schistocytosis
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| Erythema nodosum
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| Alveolar soft part sarcoma
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| Increased urinary porphobilinogen
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| Entrapment neuropathy of suprascapular nerve
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| Testicular microlithiasis
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| Increased glomerular filtration rate
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| Decreased glomerular filtration rate
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| Abnormal glomerular filtration rate
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| Abnormal renal physiology
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| Abnormal renal morphology
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| Thickened Achilles tendon
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| 2-3 toe syndactyly
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| 4-5 toe syndactyly
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| Calcaneal epiphyseal stippling
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| Talipes cavus equinovarus
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| Osteoporotic metatarsal
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| Maternal teratogenic exposure
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| Narrow sacroiliac notches in infancy
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| High maternal serum alpha-fetoprotein
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| High maternal serum chorionic gonadotropin
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| Hypoplasia of fetal nasal bone
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| Fetal fifth finger clinodactyly
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| Abnormal maternal serum screening
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| Maternal autoimmune disease
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| Low maternal serum chorionic gonadotropin
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| Low maternal serum PAPP-A
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| Irregular olecranon
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| Abnormality of the styloid process
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| Long styloid process
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| Abnormality of the ulnar epiphyses
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| Patchy sclerosis of radial diaphysis
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| Broad radial diaphysis
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| Abnormality of the olecranon
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| Curved olecranon
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| Bony spikule of ulnar epiphyseal plate
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| Abnormality of ulnar metaphysis
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| Congenital alopecia totalis
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| Duplication of the middle phalanx of the 4th finger
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| Duplication of the proximal phalanx of the 4th finger
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| Partial duplication of the phalanges of the 4th finger
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| Duplication of the distal phalanx of the 4th finger
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| Duplication of phalanx of 4th finger
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| Complete duplication of the phalanges of the 4th finger
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| Partial duplication of the proximal phalanx of the 3rd finger
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| Polydactyly affecting the 4th finger
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| Hyperacusis
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| Complete duplication of the distal phalanx of the 4th finger
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| Complete duplication of the middle phalanx of the 4th finger
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| Hypoplastic superior helix
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| Microtia
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| Absent vestibular function
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| Cochlear malformation
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| Tibial bowing
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| Micromelia
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| Femoral bowing
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| Obliteration of the pulp chamber
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| Secondary amenorrhea
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| Decreased fertility in females
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| Secondary hyperparathyroidism
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| Euthyroid multinodular goiter
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| Abnormality of the hypothalamus-pituitary axis
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| Central diabetes insipidus
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| Parathyroid hypoplasia
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| Hypoplasia of the radius
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| Drowsiness
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| Congenital hypertrophy of left ventricle
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| Posterior scalloping of vertebral bodies
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| Abnormality of cardiac atrium
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| Hypoketotic hypoglycemia
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| No permanent dentition
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| Oligosacchariduria
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| Supernumerary testes
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| Porphyrinuria
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| High-grade hypermetropia
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| Cloacal exstrophy
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| Bladder stones
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| Aplasia of the bladder
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| Aplasia/Hypoplasia of the bladder
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| Patent urachus
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| Abnormality of the urachus
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| Bracket epiphysis of the middle phalanx of the 5th finger
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| Neonatal hypoproteinemia
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| Enlarged epiphysis of the middle phalanx of the 5th finger
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| Fragmentation of the epiphysis of the middle phalanx of the 5th finger
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