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| Aplasia/Hypoplasia of the middle phalanx of the 4th finger
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| Aplasia of the proximal phalanx of the 4th finger
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| Osteolytic defects of the middle phalanx of the 4th finger
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| Bullet-shaped middle phalanx of the 4th finger
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| Short middle phalanx of the 4th finger
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| Absent middle phalanx of 4th finger
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| Broad middle phalanx of the 4th finger
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| Broad distal phalanx of the 4th finger
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| Aplasia of the distal phalanx of the 4th finger
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| Short distal phalanx of the 4th finger
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| Acute rhabdomyolysis
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| Mild fetal ventriculomegaly
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| Noncommunicating hydrocephalus
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| Abnormality of the fourth ventricle
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| Abnormality of the third ventricle
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| Fetal megacystis
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| Congenital posterior urethral valve
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| Tracheomegaly
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| Large pelvis
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| Tracheobronchmegaly
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| Bronchomegaly
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| Cor triatriatrum
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| Vascular ring
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| Anomalous pulmonary venous return
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| Partial anomalous pulmonary venous return
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| Pilonidal fistula
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| Pilonidal abscess
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| Mood swings
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| Bilateral intracranial calcifications
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| Obsessive-compulsive behavior
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| Restrictive behavior
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| Psychotic episodes
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| Dementia
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| Frontal lobe dementia
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| Impaired ability to form peer relationships
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| Metaphyseal dysostosis
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| Rudimentary postaxial polydactyly of hands
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| Ectopic ossification in tendon tissue
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| Descemet Membrane Folds
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| White matter neuronal heterotopia
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| Irregularly spaced teeth
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| Short forearm
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| Hypertensive retinopathy
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| Multiple skeletal anomalies
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| Carpal bone malsegmentation
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| Keratoconjunctivitis
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| Fundus atrophy
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| Abnormality of the fundus
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| Elevated urinary norepinephrine
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| 3-Methylglutaric aciduria
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| Short stepped shuffling gait
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| Single median maxillary incisor
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| Premature separation of centromeric heterochromatin
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| Urethral stenosis
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| Renotubular dysgenesis
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| Poor motor coordination
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| Horner syndrome
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| Abnormality of the autonomic nervous system
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| Autonomic dysregulation
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| Tetraparesis
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| Increased hematocrit
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| Increased red blood cell mass
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| Abnormality of the aorta
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| Atrioventricular block
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| Rhythm disturbances associated with pheochromocytoma
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| Complete atrioventricular canal defect
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| Coronary artery disease
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| Palpitations (with pheochromocytoma)
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| Abnormality of the cardiac septa
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| Asymmetric septal hypertrophy
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| Tachycardia (with pheochromocytoma)
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| Reticulocytopenia
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| Uncontrolled eye movements
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| Mildly reduced visual acuity
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| Pericentral retinal dystrophy
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| Bony spicule pigmentary retinopathy
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| Enlarged lacrimal glands
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| Impaired histidine renal tubular absorption
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| Lacrimal gland hypoplasia
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| Laterally curved eyebrow
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| Iris hypopigmentation
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| Chorioretinal dysplasia
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| Muscular hypotonia
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| Nausea
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| Constipation
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| Metaphyseal cupping of metacarpals
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| Narrow maxilla
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| Morphological abnormality of the central nervous system
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| Abnormality of the abdominal organs
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| Vomiting
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| Diarrhea
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| Dysphagia
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| Nausea and vomiting
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| Chronic myelogenous leukemia
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| Refractory anemia
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| Generalized tonic-clonic seizures on awakening
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| Neuronal loss in the cerebral cortex
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| Tropical spastic paraparesis
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| EMG
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| Abnormality of pattern reversal visual evoked potentials
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