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| Bladder exstrophy
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| Recurrent bronchitis
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| Flared femoral metaphysis
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| Aspiration
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| Calcific stippling
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| Cystic angiomatosis of bone
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| Long coccyx
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| Abnormality of salivation
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| Urinary bladder inflammation
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| Intestinal polyposis
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| Splayed epiphyses
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| Dysharmonic accelerated bone age
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| Dysharmonic bone age
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| Abnormal size of the palpebral fissures
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| Slanting of the palpebral fissure
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| Abnormal shape of the palpebral fissure
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| Conical tooth
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| Diastema
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| Shell teeth
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| Natal tooth
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| Delayed eruption of permanent teeth
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| Agenesis of maxillary lateral incisor
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| Microdontia
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| Misalignment of teeth
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| Enhanced ristocetin cofactor assay activity
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| Chronic lymphatic leukemia
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| Total absence von Willebrand Factor multimers
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| Absence of intermediate von Willibrand factor multimers
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| Absence of large von Willibrand factor multimers
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| Abnormal presence of ultra-large von Willebrand Factor multimers
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| Impaired von Willibrand factor collagen binding activity
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| Abnormal von Willebrand Factor multimer distribution
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| Excessive bleeding from superficial cuts
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| Excessive bleeding after a venipuncture
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| Peripheral pulmonary vessel aplasia
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| Increased pulmonary vascular resistance
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| Anomalous branches of internal carotid artery
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| Occlusive arterial disease
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| Pulmonary aterial intimal fibrosis
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| Arterial fibromuscular dysplasia
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| Large vessel vasculitis
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| Agenesis of pulmonary vessels
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| Bilateral ulnar hypoplasia
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| Cerebral vasculitis
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| Abnormality of the zygomatic arch
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| Aplasia/Hypoplasia of the cerebral white matter
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| Abnormal protein O-linked glycosylation
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| Abnormal fucosylation of O-linked protein glycosylation
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| Chorioretinitis
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| Coat hanger sign of ribs
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| Focal seizures without impairment of consciousness or awareness
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| Aplastic clavicles
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| Progressive neurologic deterioration
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| Action tremor
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| Head tremor
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| Caudate atrophy
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| Cervical cord compression
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| Intellectual disability, moderate
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| Normal pressure hydrocephalus
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| Sclerosis of the 1st metatarsal
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| Excessive femoral anteversion
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| Large central visual field defect
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| Trichiasis
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| Hemianopic blurring of vision
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| Meconium stained amniotic fluid
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| Cryptophthalmos
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| Abnormality of corneal size
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| Visual field defect
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| Aplasia/Hypoplasia of the choroid
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| Villous hypertrophy of choroid plexus
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| Punctate cataract
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| Congenital hypertrophy of retinal pigment epithelium
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| Absent lower eyelashes
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| Congenital extraocular muscle anomaly
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| Colonic inertia
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| Congenital stationary night blindness
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| Peripheral traction retinal detachment
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| Dyschromatopsia
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| Neoplasm of the central nervous system
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| Neoplasm of the peripheral nervous system
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| Pericardial mesothelioma
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| Testicular mesothelioma
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| Pleural mesothelioma
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| Peritoneal mesothelioma
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| Early onset of sexual maturation
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| Malignant mesothelioma
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| Hemiatrophy of upper limb
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| Lower limb asymmetry
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| Schwannoma
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| Intracranial meningioma
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| Scanning speech
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| Clonus
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| Abnormality of the foramen magnum
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| Thyrotoxicosis with toxic multinodular goitre
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| Hyperhomocystinemia
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| Hyperlysinemia
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| Low posterior hairline
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| Platybasia
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| Nail dysplasia
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| Pterygium formation (nails)
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