Global Variome shared LOVD

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Phenotype #0000207311 Individual ID 00269485 Associated disease ataxia Diagnosis/Initial - Diagnosis/Definite - Phenotype details term gestation 38m; no intrauterine growth retardation; no neonatal hypotonia; walk-24m; first words36m; macrocephaly; dysmorphism; ataxic gait; mild dysmetry; instability; no dysarthria/abnormal pronunciation; scale assessment and rating ataxia 9/56; normal nerve sensitivity; polykinetic tendon reflexes; pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 40, verbal intellectual quotient 50, performance intellectual quotient 50; special needs for scholarship/job; autism spectrum disorder, aggressiveness; Inheritance Familial, autosomal dominant Age/Examination 16y (16 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-11-28 17:26:48 +01:00 (CET) Date last edited N/A

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