Global Variome shared LOVD

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

Phenotype #0000125530 Individual ID 00152568 Associated disease MDC Phenotype details walked unassisted, no eye involvement, frontocortical dysplasia, hypoplastic pons, abnormal vermian foliation; 30y-severe mental retardation, epilepsy without evidence of ocular involvement on eye examination or ECG, slightly elevated serum CK (300-400U/l); brisk tendon reflexes, normal muscle strength with manual muscle testing, pseudohypertrophic appearance leg/thigh muscles Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite - Inheritance Familial, autosomal recessive Age/Examination 30y (30 years) Age/Diagnosis - Age/Onset 01y10m Phenotype/Onset seizures Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-02-03 16:55:12 +01:00 (CET) Date last edited 2018-02-03 16:59:08 +01:00 (CET)

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