Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000207302 Individual ID 00269425 Associated disease ataxia Diagnosis/Initial ataxia Diagnosis/Definite CANPMR Phenotype details delayed walking; first words; normal growth; dysmorphism; ataxic gait; mild dysmetry; instability; no dysarthria/abnormal pronunciation; scale assessment and rating ataxia 6/56; normal nerve sensitivity; normal tendon reflexes; no pyramidal symptoms; no tremor; no nystagmus; no Romberg sign; no convulsions; no strabismus; IQ 54, verbal intellectual quotient 52, performance intellectual quotient 60; not working; no behavioural troubles; Inheritance Familial, autosomal dominant Age/Examination 42y (42 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2019-11-28 16:52:59 +01:00 (CET) Date last edited N/A

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