Global Variome shared LOVD

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

Phenotype #0000207256 Individual ID 00269424 Associated disease ataxia Diagnosis/Initial ataxia Diagnosis/Definite CANPMR Phenotype details term gestation 38m; no intrauterine growth retardation; no neonatal hypotonia; sit-9m; walk-18m; first words 48m; normal growth; dysmorphism; ataxic gait; mild 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; strabismus; IQ 58, verbal intellectual quotient 52, performance intellectual quotient 57; special needs for scholarship/job; stereotypies, aggressive behaviour Inheritance Familial, autosomal dominant Age/Examination 06y (6 years) Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2019-11-27 10:27:25 +01:00 (CET) Date last edited 2019-11-28 16:51:48 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.