Phenotype #0000292037

Individual ID 00398948
Associated disease MYOP
Phenotype details hypotonia, cervical weakness; 1y2m-walk, run; ptosis; ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; scoliosis (no surgery); 8y-no cardiac involvement; intellectual disability
Diagnosis/Initial congenital myopathy
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 22y (22 years)
Age/Diagnosis -
Age/Onset <1y
Phenotype/Onset hypotonia, cervical weakness
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 2022-01-14 16:20:15 +01:00 (CET)
Date last edited N/A

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