Phenotype #0000357478

Individual ID 00472681
Associated disease MYOP
Diagnosis/Initial congenital myopathy
Diagnosis/Definite -
Phenotype details see paper; ..., pregnancy polyhydramnio; birth weak, hypotonic, weak cry, poor suck, single palmar crease, finger contractures, slightly receding chin; 1d-apnoeic episodes, required oxygen administration, no ventilatory support; tube feeding first months, 14m-gastrostomy; 10m-sit, 26m-walk; recurrent chest infections
Inheritance Familial, autosomal recessive
Age/Examination 12y (12 years)
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 2026-02-25 14:43:56 +01:00 (CET)
Date last edited 2026-02-25 14:45:55 +01:00 (CET)

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