Global Variome shared LOVD

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Phenotype #0000207301 Individual ID 00269430 Associated disease ataxia Diagnosis/Initial ataxia Diagnosis/Definite CANPMR Phenotype details intrauterine growth retardation; neonatal hypotonia; sit-9m; walk-21m; delayed speech; normal growth; dysmorphism; ataxic gait; dysmetry; instability; dysarthria/abnormal pronunciation; 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; dissociation between verbal and non-verbal skills; special needs for scholarship/job; no behavioural troubles; MRI brain normal Inheritance Isolated (sporadic) Age/Examination 04y (4 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 16:49:28 +01:00 (CET) Date last edited N/A

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