Global Variome shared LOVD

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

Phenotype #0000123865 Individual ID 00151497 Associated disease MDC Phenotype details posterior fossa malformation with cysts, MRI brain atrophy, low birth weight; CPK level raised; intellectual disability (HP:0001249) IQv 61; was able to sit Diagnosis/Initial muscular dystrophy, congenital; mental retardation Diagnosis/Definite MDDGA-4 Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset 0y Phenotype/Onset congenital hypotonia , hip dislocation, motor delay Protein IHC LAMA2, DMD, SGC normal Owner name Rosário dos Santos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-02-23 18:21:02 +01:00 (CET) Date last edited 2012-03-09 18:55:42 +01:00 (CET)

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