Global Variome shared LOVD

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

Phenotype #0000335625 Individual ID 00446399 Associated disease MDC1A Diagnosis/Initial - Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details HP:0003577 Congenital onset HP:0030091 Absent muscle fiber merosin HP:0002540 Inability to walk HP:0007103 Hypointensity of cerebral white matter on MRI HP:0001250 Seizure 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 2024-01-16 14:43:51 +01:00 (CET) Date last edited 2024-01-17 13:45:25 +01:00 (CET)

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