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| Kaposi's sarcoma
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| Lichenification
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| Hypercoagulability
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| Sclerosis of finger phalanx
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| Narrow palm
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| Large face
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| Germ cell neoplasia
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| Gonadal calcification
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| Abnormality of the spleen
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| Broad proximal phalanx of the 4th toe
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| Broad 2nd toe
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| Increased susceptibility to spontaneous sister chromatid exchange
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| Restricted neck movement due to contractures
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| Respiratory difficulties
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| Temperature instability
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| Intermittent hypothermia
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| Mixed respiratory and metabolic acidosis
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| Hypoargininemia
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| Abnormality of the cerebral subcortex
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| Abnormality of the epiphysis of the proximal phalanx of the 5th toe
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| Abnormality of the epiphysis of the middle phalanx of the 5th toe
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| Partial development of the penile shaft
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| Abnormality of the epiphysis of the distal phalanx of the 3rd toe
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| Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
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| Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
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| Abnormality of the abdominal musculature
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| Stiff skin
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| Abnormality of the epiphysis of the distal phalanx of the 4th toe
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| Attached earlobe
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| Abnormality of the epiphysis of the proximal phalanx of the 4th toe
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| Torsade de pointes
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| Medulloblastoma
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| Hidrotic ectodermal dysplasia
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| Increased number of skin folds
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| Irregular hyperpigmentation of back
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| Hypopigmented skin patches on arms
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| Yellow subcutaneous tissue covered by thin, scaly skin
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| Atypical neurofibromatosis
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| Mid-frequency hearing loss
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| Neoplasm of the ear
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| Abnormality of stem of antihelix
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| Abnormality of carpal bone ossification
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| Anterior encephalocele
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| Generalized hyperreflexia
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| Breast carcinoma
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| Colon cancer
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| Nonprogressive encephalopathy
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| Cerebellar dysplasia
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| Enhanced neurotoxicity of vincristine
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| Underdeveloped stem of antihelix
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| Symmetric lesions of the basal ganglia
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| Hypoglycemic encephalopathy
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| Axial muscle stiffness
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| Metachromatic leukodystrophy variant
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| Unilateral polymicrogyria
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| Adrenal overactivity
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| Lymphadenopathy
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| Abnormality of the immune system
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| Downturned corners of mouth
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| Exaggerated median tongue furrow
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| Commissural lip pit
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| Recurrent infections
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| Recurrent bacterial infections
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| Uric acid urolithiasis independent of gout
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| Autonomic erectile dysfunction
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| Crescentic glomerulonephritis
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| Aplasia/Hypoplasia of the fallopian tube
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| Incomplete male pseudohermaphroditism
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| Disproportionate short-limb short stature
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| Multiple small medullary renal cysts
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| Failure of eruption of permanent teeth
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| Hypoplastic coccygeal vertebrae
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| Distal lower limb amyotrophy
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| Interphalangeal joint erosions
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| Swelling of proximal interphalangeal joints
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| Proboscis
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| High insertion of columella
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| Corneal ulceration
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| Iris transillumination defect
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| Hyperechogenic kidneys
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| Anisometropia
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| Accessory cranial suture
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| Narrow jaw
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| Axial malrotation of the kidney
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| First degree atrioventricular block
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| Reversible renal failure
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| Renal malrotation
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| Proximal limb muscle stiffness
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| Multiple lipomas
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| Limited wrist extension
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| Aplasia of the inferior half of the cerebellar vermis
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| Generalized lymphadenopathy
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| Prominent superficial veins
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| Agenesis of mandibular central incisor
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| Partial atrioventricular canal defect
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| Intermediate atrioventricular canal defect
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| Imperforate tricuspid valve
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| Imperforate atrioventricular valve
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| Hypoplastic tricuspid valve
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| Supramitral ring
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