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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
-
| Moderate global developmental delay
-
| Abnormality of bone marrow stromal cells
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| Basal ganglia necrosis
-
| Epiphyseal stippling of the metacarpals
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| Prostate cancer
-
| Aplasia/Hypoplasia of the nails
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| Uraciluria
-
| Stomach cancer
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| Panuveitis
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| Methylmalonic aciduria
-
| Posterior uveitis
-
| Anterior uveitis
-
| Partial duplication of the middle phalanx of the 5th toe
-
| Echogenic fetal bowel
-
| Abnormality of the inner ear
-
| Posteriorly rotated ears
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| Ependymoma
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| Small forehead
-
| Pseudoepiphyses of the metacarpals
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| Thoracic kyphoscoliosis
-
| Abnormal location of ears
-
| Abnormality of the outer ear
-
| Eyelid myoclonias
-
| Generalized clonic seizures
-
| 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
-
| Focal tonic seizures
-
| Partial duplication of the proximal phalanx of the 4th toe
-
| Irregular epiphysis of the proximal phalanx of the 5th finger
-
| Pear-shaped nose
-
| Nail dystrophy
-
| Hyperconvex thumb nails
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| Onychogryposis of toenails
-
| Onycholysis of distal fingernails
-
| Ridged fingernail
-
| Suprasellar arachnoid cyst
-
| Accessory spleen
-
| Elevated 7-dehydrocholesterol
-
| Hamartoma of the eye
-
| Keloids
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| Undulate ribs
-
| Undulate clavicles
-
| Y-shaped metatarsals
-
| Hamartoma
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| Aplasia/Hypoplasia of the Epiglottis
-
| Bifid epiglottis
-
| Nodular goiter
-
| Hyperventilation
-
| Decreased adipose tissue around neck
-
| Depletion of components of the alternative complement pathway
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| Truncus arteriosus
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| Bile duct proliferation
-
| Portal hypertension
-
| 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
-
| Hepatic cysts
-
| Combined immunodeficiency
-
| Recurrent protozoan infections
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| Distal urethral duplication
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| Transient neonatal diabetes mellitus
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| Adrenocortical adenoma
-
| Gastrointestinal stroma tumor
-
| Cyst of the ductus choledochus
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| Mediastinal lymphadenopathy
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| Ureteral triplication
-
| Histiocytosis
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