Global Variome shared LOVD

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

Phenotype #0000323915 Individual ID 00433439 Associated disease MDC1A Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Phenotype details Delayed ability to roll over (HP:0032989) wheelchair dependence Age/Examination - Age/Diagnosis 00y06m Age/Onset 00y01m Phenotype/Onset Hypotonia (HP:0001252) Protein - Owner name Nguyen Hoang Database submission license No license selected Created by Nguyen Hoang Date created 2023-03-09 08:39:47 +01:00 (CET) Date last edited 2023-03-09 15:03:02 +01:00 (CET)

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