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| Abnormality of the eleventh cranial nerve
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| Widened proximal femoral metaphyses
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| Carpal bone aplasia
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| Dysplastic iliac wings
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| Hemiballismus
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| Calcification of muscles
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| Early ossification of capital femoral epiphyses
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| Synostosis of joints
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| Ectopic respiratory mucosa
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| Sarcoma
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| Externally rotated hips
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| Fibrosarcoma
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| Desmoid tumors
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| Osteoma
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| Recurrent singultus
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| Bilateral choroid coloboma
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| Corneal opacity
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| Onset
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| Peripapillary chorioretinal atrophy
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| Pace of progression
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| Rapidly progressive
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| Rhabdomyoma
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| Cerebral hamartomata
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| Plexiform neurofibroma
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| Glioma
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| Optic glioma
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| Spinal neurofibromas
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| Tibial pseudoarthrosis
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| Abnormality of the nervous system
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| Abnormality of the antihelix
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| Hypoplasia of the antihelix
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| Periodontitis
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| Abnormality of secondary sexual hair
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| Localized hirsutism
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| Fasting hyperinsulinemia
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| Unconjugated hyperbilirubinemia
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| Acute hyperammonemia
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| Generalized neonatal hypotonia
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| hypokalemic hypochloremic metabolic alkalosis
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| Synostosis involving bones of the hand
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| Short palm
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| Maturity-onset diabetes of the young
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| Vitamin A deficiency
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| hypernatremic dehydration
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| Duplication of hand bones
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| Severe lactic acidosis
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| Exercise-induced lactic acidemia
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| Congenital lactic acidosis
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| Cortical thickening of hand bones
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| Periapical radiolucency
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| Gelastic seizures
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| Speech articulation difficulties
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| Posteriorly placed tongue
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| Midline notch of upper alveolar ridge
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| Alveolar ridge overgrowth
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| Multiple enchondromatosis
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| Increased fibular diameter
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| Rhizomelic leg shortening
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| Occipital cortical atrophy
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| Parietal cortical atrophy
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| Abnormality of the mitochondrion
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| Abnormal mitochondrial number
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| Decreased serum creatinine
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| Abnormal circulating creatinine level
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| Primary angle closure glaucoma
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| Primary open angle glaucoma
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| Stippling of the epiphysis of the proximal phalanx of the 4th toe
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| Triangular epiphysis of the proximal phalanx of the 4th toe
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| Abnormality of the auditory canal
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| Acute otitis media
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| Abnormality of the middle ear
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| Abnormality of the pinna
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| Incomplete partition of the cochlea type II
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| Abnormality of cochlea
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| Cupped ear
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| Ileal atresia
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| Abnormality of the left ventricular outflow tract
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| Intestinal atresia
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| Hypovolemia
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| Recurrent aphthous stomatitis
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| Abnormality of blood volume homeostasis
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| Hypervolemia
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| Angulated humerus
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| Recurrent sinusitis
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| Chronic sinusitis
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| Duplication of middle phalanx of toe
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| Ivory epiphysis of the distal phalanx of the 5th toe
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| Hyperchylomicronemia
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| Cuboid-shaped thoracolumbar vertebral bodies
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| Hypoplastic 5th lumbar vertebrae
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| Spinal dysplasia
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| Vertebral wedging
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| Tall lumbar vertebral bodies
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| Punctate vertebral calcifications
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| Vertebral clefting
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| Frontal open bite
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| Anterior open bite
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| Triangular-shaped open mouth
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| Oral mucusa blisters
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| Absent skin pigmentation
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