Global Variome shared LOVD

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

Phenotype #0000323913 Individual ID 00433437 Associated disease MDC1A Diagnosis/Initial congenital muscular dystrophy Diagnosis/Definite MDC1A Inheritance Familial, autosomal recessive Phenotype details Proximal muscle weakness in upper and lower limbs (HP:0008997) Elevated circulating creatine kinase concentration (HP:0003236) Motor delay (HP:0001270) Age/Examination 05y (5 years) Age/Diagnosis 00y05m Age/Onset 00y04m Phenotype/Onset Neonatal hypotonia (HP:0001319) Protein - Owner name Nguyen Hoang Database submission license No license selected Created by Nguyen Hoang Date created 2023-03-09 07:55:49 +01:00 (CET) Date last edited 2023-03-09 14:54:05 +01:00 (CET)

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