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
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)

Global Variome shared LOVD