Phenotype #0000323912

Individual ID 00433436
Associated disease MDC1A
Diagnosis/Initial congenital muscular dystrophy
Diagnosis/Definite MDC1A
Inheritance Familial, autosomal recessive
Phenotype details Muscle weakness (HP:0001324)
Motor delay (HP:0001270)
Elevated circulating creatine kinase concentration (HP:0003236)
Hypotonia (HP:0001252)
No-Seizure (HP:0001250)
Age/Examination -
Age/Diagnosis 03y
Age/Onset 00y05m
Phenotype/Onset Muscle weakness (HP:0001324), weak movements
Protein nhhoang@igr.ac.vn
Owner name Nguyen Hoang
Database submission license No license selected
Created by Nguyen Hoang
Date created 2023-03-09 04:14:56 +01:00 (CET)
Date last edited 2023-03-09 14:54:05 +01:00 (CET)

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