Phenotype #0000333191

Individual ID 00443912
Associated disease CPEO
Phenotype details ptosis (HP:0000508), Respiratory insufficiency due to muscle weakness (HP:0002747); Global developmental delay(HP:0001263); Hypotonia (HP:0001252) ;Weakness of facial musculature(HP:0030319); Ophthalmoparesis (HP:0000597); High palate (HP:0000218
Diagnosis/Initial congenital myasthenia
Inheritance Familial, autosomal recessive
Diagnosis/Definite Pure mitochondrial myopathy
Age/Examination 05y (5 years)
Age/Diagnosis -
Age/Onset 01y06m
Phenotype/Onset Fatigable weakness of bulbar muscles(HP:0030192)
Protein SURF1
Owner name Beatriz Betini
Database submission license Creative Commons Attribution-NonCommercial 4.0 InternationalCreative Commons License
Created by Beatriz Betini
Date created 2023-12-07 20:03:44 +01:00 (CET)
Date last edited 2023-12-11 10:04:22 +01:00 (CET)

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