Phenotype #0000307756

Individual ID 00415980
Associated disease CMS11
Phenotype details HP:0000276 Long face
HP:0000218 High palate
HP:0000508 Ptosis
HP:0000338 Hypomimic face
HP:0001252 Hypotonia
HP:0002098 Respiratory distress (neonatal)
HP:0003388 Easy fatigability
HP:0002650 Scoliosis (mild)
HP:0001558 Decreased fetal movement
HP:0001388 Joint laxity
Positive response to pyridostigmine
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite CMS11 (#616326)
Age/Examination 09y06m (9 years, 6 months)
Age/Diagnosis 06y06m
Age/Onset -
Phenotype/Onset Neonatal onset HP:0003623
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 2022-08-19 15:33:29 +02:00 (CEST)
Date last edited 2022-08-21 13:44:49 +02:00 (CEST)

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