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| Abnormality of vitamin C metabolism
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| Overriding atrioventricular valve
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| Fragmentation of the epiphysis of the distal phalanx of the 4th toe
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| Thyroid hypoplasia
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| Adenomatous colonic polyposis
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| Double orifice mitral valve
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| Rectal abscess
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| Cleft anterior mitral valve leaflet
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| Recurrent upper respiratory tract infections
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| Tachypnea
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| Bowel diverticulosis
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| Tracheobronchomalacia
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| Tracheal calcification
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| Bronchomalacia
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| Upper airway obstruction
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| Duplicated colon
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| Multiple intestinal neurofibromatosis
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| Abnormality of the foot
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| Absent distal phalanx of the 3rd toe
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| Aplasia of the distal phalanx of the 4th toe
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| Uterine leiomyosarcoma
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| Aplasia/Hypoplasia of the distal phalanx of the 4th toe
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| Aplasia/Hypoplasia of the distal phalanx of the 5th toe
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| Aplasia/Hypoplasia of the middle phalanx of the 3rd toe
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| Aplasia/Hypoplasia of the middle phalanx of the 4th toe
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| Aplasia/Hypoplasia of the middle phalanx of the 5th toe
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| Phalangeal dislocations
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| Aplasia/hypoplasia of the proximal phalanx of the 4th toe
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| Aplasia/hypoplasia of the proximal phalanx of the 5th toe
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| Type 1 and type 2 muscle fiber minicore regions
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| Decreased CSF homovanillic acid (HVA)
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| Type 1 collagen overmodification
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| Externally rotated/abducted legs
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| Eunuchoid habitus
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| Excessive salivation
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| Neoplasm of the pancreas
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| Minicore (multicore) myopathy
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| Papillary thyroid carcinoma
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| Neoplasm of the liver
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| Parathyroid adenoma
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| Hypoplasia of the lesser trochanter
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| Limited hip movement
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| Narrow sacroiliac notch
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| Hypoplasia of the femoral head
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| Pyropoikilocytosis
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| Generalized hypotrichosis
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| Atrophic, patchy alopecia
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| large clumps of pigment irregularly distributed along hair shaft
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| Temporal hypotrichosis
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| Long eyebrows
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| Punctate vasculitis skin lesions
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| B lymphocytopenia
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| Abnormality of carnitine metabolism
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| Hypopigmentation of the fundus
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| Absent Achilles reflex
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| Abnormality of fatty-acid anion metabolism
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| Cold-induced hand cramps
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| Sensory ataxic neuropathy
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| Prolonged miniature endplate currents
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| Decreased motor nerve conduction velocity
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| Edema of the lower limbs
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| Increased intracellular sodium
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| EEG with temporal sharp waves
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| Abnormality of digit
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| EEG with frontal sharp waves
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| Osteopathia striata
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| EEG with occipital sharp waves
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| Primary amenorrhea
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| Symphalangism of middle phalanx of 5th finger
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| Deviation of the 5th finger
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| Proximal/middle symphalangism of 5th finger
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| Abnormality of the epiphyses of the 4th finger
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| Patchy sclerosis of the middle phalanx of the 5th finger
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| Abnormality of the phalanges of the 4th finger
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| Curved middle phalanx of the 5th finger
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| Osteolytic defects of the middle phalanx of the 5th finger
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| Triangular epiphyses of the metacarpals
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| Abnormal brain positron emission tomography
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| Isosexual precocious puberty
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| Intestinal lymphedema
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| Lactose intolerance
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| Status Asthmaticus
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| Intralobar sequestration
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| Abasia
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| Loss of ability to walk in early childhood
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| Hypotrichosis of the scalp
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| Duodenal polyposis
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| Elbow hypertrichosis
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| Bronchopulmonary sequestration
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| Jejunal diverticula
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| Fulminant hepatitis
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| Juvenile gastrointestinal polyposis
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| Malrotation of colon
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| Nephrolithiasis
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| Elevated follicle stimulating hormone
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| Joint laxity
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| Oral cleft
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| Pierre-Robin sequence
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| Short lingual frenulum
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| Triangular mouth
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