Phenotype #0000323913

Individual ID 00433437
Associated disease MDC1A
Diagnosis/Initial congenital muscular dystrophy
Diagnosis/Definite MDC1A
Inheritance Familial, autosomal recessive
Phenotype details Proximal muscle weakness in upper and lower limbs (HP:0008997)
Elevated circulating creatine kinase concentration (HP:0003236)
Motor delay (HP:0001270)
Age/Examination 05y (5 years)
Age/Diagnosis 00y05m
Age/Onset 00y04m
Phenotype/Onset Neonatal hypotonia (HP:0001319)
Protein -
Owner name Nguyen Hoang
Database submission license No license selected
Created by Nguyen Hoang
Date created 2023-03-09 07:55:49 +01:00 (CET)
Date last edited 2023-03-09 14:54:05 +01:00 (CET)

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