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| Widely-spaced maxillary central incisors
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| Polyhydramnios
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| Abnormality of the amniotic fluid
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| Fetal polyuria
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| Oligohydramnios
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| Triangular shaped phalanges of the 2nd toe
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| Duplication of the phalanges of the 2nd toe
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| Ectodermal dysplasia
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| Edema
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| Curved 2nd toe phalanx
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| Osteolytic defects of the phalanges of the 2nd toe
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| Patchy sclerosis of 2nd toe phalanx
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| Symphalangism affecting the phalanges of the 2nd toe
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| Hyperkeratosis
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| Thin skin
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| Sacral dimple
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| Cyanosis
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| Hypohidrosis
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| Petechiae
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| Eczema
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| Cutis marmorata
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| Cardiac shunt
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| Primary atrial arrhythmia
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| Muscular subvalvular aortic stenosis
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| Abnormality of the pericardium
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| Leukemia
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| Cardiac arrest
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| Right-to-left shunt
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| Sudden death
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| Abnormality of the jejunum
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| Spontaneous abortion
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| Sensory axonal neuropathy
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| Persistent patent ductus venosus
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| Stippling of the epiphyses of the 4th toe
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| Small epiphyses of the 4th toe
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| Fragmentation of the epiphyses of the 3rd toe
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| Dacrystic seizures
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| Pseudoepiphyses of the 4th toe
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| Bullet-shaped distal phalanx of the 3rd toe
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| Irregular epiphyses of the 4th toe
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| Oral-pharyngeal dysphagia
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| Fragmentation of the epiphyses of the 4th toe
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| Macrocephaly due to hydrocephalus
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| Hepatocellular adenoma
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| Epileptic encephalopathy
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| Postnatal growth retardation
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| Cheilitis
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| Abnormality of the nasolacrimal system
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| Abnormality of the pupil
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| Miosis
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| Abnormality of ocular smooth pursuit
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| Abnormality of the choroid
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| Choroid coloboma
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| Iris coloboma
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| Photophobia
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| Congestive cardiomyopathy
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| Blindness
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| Impaired convergence
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| Interstitial pneumonitis
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| Intraalveolar nodular calcifications
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| Alveolar proteinosis
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| Hypersensitivity pneumonitis
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| Laryngeal stridor
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| Chronic obstructive pulmonary disease
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| Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
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| Bracket epiphyses of the 5th toe
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| Alveolar cell carcinoma
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| Pulmonary venoocclusive disease
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| Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
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| Bilateral ductus arteriosus
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| Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
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| Curved middle phalanx of the 3rd finger
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| Tongue atrophy
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| Eclabion
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| Thick vermilion border
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| Setting-sun eye phenomenon
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| Vocal tremor
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| Specific pneumococcal antibody deficiency
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| Specific antibody deficiency
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| Carotid artery occlusion
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| Temporomandibular joint crepitus
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| Temporomandibular joint ankylosis
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| Hyponatremia
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| Abnormal ventricular filling
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| Limb joint contracture
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| Hypocalcemia
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| Hypocalciuria
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| Low-molecular-weight proteinuria
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| Reduced factor VIII activity
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| Hypercholesterolemia
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| Motor polyneuropathy
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| Absent smooth pursuit
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| Lactic acidosis
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| Microscopic hematuria
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| Aortic tortuosity
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| Congenital hepatic fibrosis
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| Biliary cirrhosis
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| Cholestatic liver disease
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| Aortic root dilatation
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| Aneurysm
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