Phenotype #0000311173

Individual ID 00419904
Associated disease MYOP
Diagnosis/Initial myopathy
Diagnosis/Definite -
Phenotype details congenital; MRC muscle strength neck poor head control, neck flexors and extensors 3; MRC muscle strength upper limbs antigravity movements; MRC muscle strength lower limbs reduced movements; no facial weakness; no calf pseudohypertrophy; no scoliosis; no contractures; forced vital capacity normal; no sleep apnoea; no cardiac involvement; normal CK level
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2022-10-24 22:26:15 +02:00 (CEST)
Date last edited N/A

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