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| Pericardial effusion
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| Abnormality of mast cells
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| Abnormality of the vitamin B3 metabolism
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| Ventriculomegaly
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| Abnormality of the cerebral ventricles
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| Restrictive respiratory insufficiency
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| Bronchiectasis
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| Pulmonary infiltrates
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| Camptodactyly of finger
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| Joint contractures involving the joints of the feet
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| Thickened cortex of bones
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| Slow-growing scalp hair
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| Tics
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| Neoplasm of the thyroid gland
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| Accessory ectopic thyroid tissue
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| Abnormality of the scalp hair
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| Pseudo-fractures
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| Phonic tics
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| Motor tics
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| Cranial nerve motor loss
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| Hypoplasia of the optic tract
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| Frontoparietal polymicrogyria
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| Abnormality of branched chain family amino acid metabolism
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| Aspiration pneumonia
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| Bronchiolitis
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| Pulmonary lymphoma
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| Acute aspiration pneumonia
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| Hepatic granulomatosis
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| Morbus Scheuermann
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| Arnold-Chiari type I malformation
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| Paroxysmal choreoathetosis
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| Morbus Osgood-Schlatter
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| Hypersarcosinuria
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| Hypersarcosinemia
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| Hyposmia
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| Abnormality of the sense of smell
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| Abnormality of glycine metabolism
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| Meconium ileus
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| Abnormality of the pylorus
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| Proximal esophageal atresia
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| Abnormality of serine family amino acid metabolism
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| Prominent nipples
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| Abnormality of the nipple
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| Bony paranasal bossing
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| Spontaneous, recurrent epistaxis
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| Cyst of the eyelid
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| Retinal nonattachment
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| Exudative retinopathy
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| Molybdenum cofactor deficiency
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| Propionicacidemia
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| Low plasma citrulline
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| Increased total bilirubin
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| Positive regitine blocking test
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| Hypoplasia of the lacrimal puncta
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| Congenital onset
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| Short proximal phalanx of thumb
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| Bullet-shaped proximal phalanx of the thumb
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| Broad proximal phalanx of the thumb
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| Osteolytic defect of the proximal phalanx of the thumb
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| Curved proximal phalanx of the thumb
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| Synostosis of thumb phalanx
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| Patchy sclerosis of the proximal phalanx of the thumb
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| Absent proximal phalanx of thumb
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| Triangular shaped proximal phalanx of the thumb
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| Focal T2 hypointense basal ganglia lesion
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| T2 hypointense basal ganglia
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| T2 hypointense brainstem
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| Abnormal basal ganglia MRI signal intensity
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| Nonmotile sperm
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| Juvenile myelomonocytic leukemia
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| CNS hypermyelination
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| Enlarged brainstem
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| Recurrent vulvovaginal candidiasis
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| Globozoospermia
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| Abnormal sperm motility
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| Reduced sperm motility
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| Abnormality of prothrombin
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| Reduced prothrombin activity
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| increased serum bile acid concentration
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| Onychomycosis
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| Abnormal electroretinogram
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| Duplication of the middle phalanx of the 2nd finger
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| Duplication of the distal phalanx of the 2nd finger
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| Abnormality of placental membranes
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| Moderate intrauterine growth retardation
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| Complete duplication of thumb phalanx
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| Duplication of thumb phalanx
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| Asymmetry of the mouth
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| Asymmetry of the mandible
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| Duplication of the proximal phalanx of the 2nd finger
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| Polydactyly affecting the 2nd finger
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| Duplication of phalanx of 2nd finger
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| Partial duplication of thumb phalanx
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| Palpebral edema
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| Agenesis of primary mandibular lateral incisor
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| Pseudoepiphyses of the 2nd finger
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| Ivory epiphyses of the 2nd finger
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| Stippling of the epiphyses of the 2nd finger
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| Small epiphyses of the 2nd finger
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| Enlarged epiphyses of the 2nd finger
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