Phenotype #0000207307

Individual ID	00269481
Associated disease	ataxia
Diagnosis/Initial	-
Diagnosis/Definite	-
Phenotype details	first words; normal growth; facial dysmorphism; no ataxic gait; no dysmetry; mild instability; 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 58, verbal intellectual quotient 59, performance intellectual quotient 58; job reserved for disabled; no behavioural troubles; MRI brain pathological
Inheritance	Familial, autosomal dominant
Age/Examination	41y (41 years)
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-11-28 17:26:48 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD