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| Retinal hemangioblastoma
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| Peripheral arterial stenosis
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| Coronary atherosclerosis
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| Atypical hyperphenylalaninemia
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| Hyperphenylalaninemia
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| Phenylpyruvic acidemia
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| Abnormality of magnesium homeostasis
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| Orthostatic hypotension due to autonomic dysfunction
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| Pulmonary artery dilatation
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| Abnormal oral glucose tolerance
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| Chronic lactic acidosis
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| Broad middle phalanx of the 5th toe
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| Short uvula
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| Decreased fucosylation of N-linked protein glycosylation
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| Abnormality of the sixth cranial nerve
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| Abducens palsy
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| Slow-growing nails
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| Severe global developmental delay
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| Moderate expressive language delay
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| Mild expressive language delay
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| Abnormal position of hair whorl
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| Incomplete cleft of the upper lip
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| Long upper lip
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| Mild global developmental delay
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| Moderate global developmental delay
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| Abnormality of bone marrow stromal cells
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| Basal ganglia necrosis
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| Epiphyseal stippling of the metacarpals
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| Prostate cancer
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| Aplasia/Hypoplasia of the nails
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| Uraciluria
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| Stomach cancer
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| Panuveitis
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| Methylmalonic aciduria
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| Posterior uveitis
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| Anterior uveitis
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| Partial duplication of the middle phalanx of the 5th toe
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| Echogenic fetal bowel
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| Abnormality of the inner ear
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| Posteriorly rotated ears
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| Ependymoma
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| Small forehead
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| Pseudoepiphyses of the metacarpals
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| Thoracic kyphoscoliosis
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| Abnormal location of ears
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| Abnormality of the outer ear
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| Eyelid myoclonias
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| Generalized clonic seizures
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| Supraventricular tachycardia with a manifest accessory pathway on the septum
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| Atrial reentry tachycardia
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| Gustatory auras
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| Olfactory Auras
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| Psychic auras
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| Somatosensory auras
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| Vegetative auras
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| Visual auras
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| Focal myoclonic seizures
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| Focal tonic seizures
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| Partial duplication of the proximal phalanx of the 4th toe
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| Irregular epiphysis of the proximal phalanx of the 5th finger
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| Pear-shaped nose
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| Nail dystrophy
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| Hyperconvex thumb nails
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| Onychogryposis of toenails
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| Onycholysis of distal fingernails
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| Ridged fingernail
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| Suprasellar arachnoid cyst
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| Accessory spleen
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| Elevated 7-dehydrocholesterol
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| Hamartoma of the eye
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| Keloids
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| Undulate ribs
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| Undulate clavicles
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| Y-shaped metatarsals
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| Hamartoma
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| Aplasia/Hypoplasia of the Epiglottis
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| Bifid epiglottis
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| Nodular goiter
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| Hyperventilation
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| Decreased adipose tissue around neck
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| Depletion of components of the alternative complement pathway
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| Truncus arteriosus
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| Bile duct proliferation
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| Portal hypertension
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| Recurrent meningococcal disease
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| Macrovesicular hepatic steatosis
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| Hepatic abscesses due to immunodeficiency
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| Intrahepatic biliary dysgenesis
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| Intrahepatic cholestasis
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| Hepatic cysts
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| Combined immunodeficiency
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| Recurrent protozoan infections
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| Distal urethral duplication
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| Transient neonatal diabetes mellitus
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| Adrenocortical adenoma
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| Gastrointestinal stroma tumor
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| Cyst of the ductus choledochus
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| Mediastinal lymphadenopathy
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| Ureteral triplication
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| Histiocytosis
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