Global Variome shared LOVD

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

Phenotype #0000338743 Individual ID 00449569 Associated disease MDC1A Diagnosis/Initial - Diagnosis/Definite MDC1A (# 607855) Inheritance Familial, autosomal recessive Phenotype details Congenital onset (A phenotypic abnormality that is present at birth.) (HP:0003577) Inability to walk (HP:0002540) Absent muscle fiber merosin (HP:0030091) Hypointensity of cerebral white matter on MRI (HP:0007103) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name María Eugenia Foncuberta Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by María Eugenia Foncuberta Date created 2024-04-29 13:56:04 +02:00 (CEST) Date last edited 2024-04-29 15:58:38 +02:00 (CEST)

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