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 InternationalCreative Commons License
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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