Global Variome shared LOVD

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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 International 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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