Phenotype #0000333192

Individual ID 00443936
Associated disease CMS5;EAD
Phenotype details HP:0000508 Ptosis
HP:0003473 Fatigable weakness
HP:0002643 Neonatal respiratory distress
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name María Eugenia Foncuberta
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by María Eugenia Foncuberta
Date created 2023-12-07 20:19:19 +01:00 (CET)
Date last edited 2023-12-11 09:57:25 +01:00 (CET)

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