Phenotype #0000341364

Individual ID 00452804
Associated disease MDC1A
Diagnosis/Initial -
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details Abnormality of the nervous system, Myopathy, Multiple joint contractures, Elevated circulating creatine kinase concentration
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-07-24 13:57:08 +02:00 (CEST)
Date last edited 2024-08-16 18:44:12 +02:00 (CEST)

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