Phenotype #0000334679

Individual ID 00445403
Associated disease MDC1A
Diagnosis/Initial -
Diagnosis/Definite MDC1A
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
No 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 InternationalCreative Commons License
Created by María Eugenia Foncuberta
Date created 2024-01-15 14:04:03 +01:00 (CET)
Date last edited 2024-01-17 13:48:58 +01:00 (CET)

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