Global Variome shared LOVD

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

Phenotype #0000124830 Individual ID 00152487 Associated disease MDC Phenotype details Cerebellar cysts; strabismus; CPK 2100; intellectual disability (HP:0001249); onset neonatal; able to sit Diagnosis/Initial dystrophy, muscular, congenital Diagnosis/Definite - Inheritance Isolated (sporadic) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset congenital hypotonia Protein - Owner name Rosário dos Santos Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2009-02-27 14:46:24 +01:00 (CET) Date last edited 2012-03-09 20:05:16 +01:00 (CET)

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