Global Variome shared LOVD

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Phenotype #0000207305 Individual ID 00269479 Associated disease ataxia Diagnosis/Initial - Diagnosis/Definite - Phenotype details term gestation 40m; no intrauterine growth retardation; no neonatal hypotonia; sit-11m; walk-24m; no speech; normal growth; dysmorphism; no ataxic gait; no dysmetry; instability; scale assessment and rating ataxia 9/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 67, verbal intellectual quotient 78, performance intellectual quotient 61; special needs for scholarship/job; no behavioural troubles; Inheritance Familial, autosomal dominant Age/Examination 4y (4 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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