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| Protuberant abdomen
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| Omphalocele
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| Umbilical hernia
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| Cerebral arteriovenous malformation
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| Slender build
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| Mild postnatal growth retardation
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| Failure to thrive in infancy
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| Abnormality of the middle phalanx of the 3rd toe
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| Abnormality of the distal phalanx of the 3rd toe
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| Symphalangism affecting the phalanges of the 3rd toe
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| Patchy sclerosis of 3rd toe phalanx
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| Duplication of phalanx of the 3rd toe
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| Triangular shaped phalanges of the 3rd toe
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| Bullet-shaped 3rd toe phalanx
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| Localized neuroblastoma
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| Osteolytic defects of the phalanges of the 3rd toe
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| Curved 3rd toe phalanx
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| Absent epiphysis of the middle phalanx of the 4th toe
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| Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis
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| Myxoid subcutaneous tumors
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| Marked muscular hypertrophy
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| Difficulty running
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| Progressive leukoencephalopathy
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| Hypoplasia of deltoid muscle
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| Exercise-induced rhabdomyolysis
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| Peroneal muscle atrophy
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| Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis
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| Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis
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| Posterior rib fusion
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| Sprengel anomaly
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| Flat glenoid fossa
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| Wide-cupped costochondral junctions
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| Superior pectus carinatum
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| Broad clavicles
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| Pectus excavatum of inferior sternum
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| Shield chest
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| Abnormality of the costochondral junction
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| Scapular exostoses
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| Cutaneous finger syndactyly
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| Broad inferior crus of antihelix
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| Oculogyric crisis
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| Paraplegia
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| Paraplegia/paraparesis
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| Abnormality of the liver
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| Recurrent streptococcus pneumoniae infections
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| Severe B lymphocytopenia
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| Severe viral infections
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| Partial humoral immunodeficiency
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| Hepatic steatosis
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| Cirrhosis
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| Susceptibility to chickenpox
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| Hepatic failure
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| Pineal cyst
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| Decreased serum complement factor H
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| Abnormality of humoral immunity
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| Monodactyly (feet)
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| Small hand
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| Macular scarring
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| Marcus Gunn pupil
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| Periorbital fullness
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| Hemihypotrophy of lower limb
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| Cleft eyelid
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| Posterior embryotoxon
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| Entropion
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| Dacrocystitis
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| Supranuclear ophthalmoplegia
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| Blurred vision
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| Pulmonary arteriovenous malformation
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| Unilateral primary pulmonary dysgenesis
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| Impaired memory B-cell generation
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| Abnormality of B cells
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| Extrapulmonary sequestrum
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| Abnormality of T cells
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| Cardiorespiratory arrest
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| Recurrent fungal infections
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| Chronic obstructive airway disease from birth
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| Truncal titubation
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| Abnormal liver parenchyma morphology
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| Lack of bowel sounds
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| Hypoactive bowel sounds
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| Hyperactive bowel sounds
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| Abnormal bowel sounds
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| Abnormality of the posterior hairline
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| Oral cavity bleeding
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| Iridodonesis
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| Abnormality of phenylalanine metabolism
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| Abnormality of the curvature of the cornea
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| Absent right superior vena cava
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| Neurofibrosarcoma
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| Anesthetic-induced rhabdomylosis
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| Numerous pigmented freckles
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| Lisch nodules
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| Tibial torsion
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| Bullet-shaped proximal phalanx of the 3rd toe
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| Type I lissencephaly
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| Bullet-shaped middle phalanx of the 5th toe
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| Aplasia/Hypoplasia of the cerebellar vermis
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| Abnormality of the premaxilla
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| White mater abnormalities in the posterior periventricular region
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| Hemiclonic seizures
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