Phenotype #0000162029

Individual ID	00213575
Associated disease	MYOP
Diagnosis/Initial	myopathy, congenital (cap disease)
Diagnosis/Definite	-
Phenotype details	neonatal truncal hypotonia, slowly improved during childhood; 18m-long myopathic face, open triangular mouth, high-arched palate, narrow chest mainly diaphragmatic breathing, marked generalised hypotonia, absent deep tendon reflexes, exaggerated lumbar lordosis on standing; childhood-stable generalised weakness, difficulty running could not jump, weakness prominent in proximal lower limb muscles, ankle dorsiflexors, neck movements, mild scoliosis; 17y-echocardiogram normal cardiac function, borderline aortic dilatation at the aortic sinuses; 20y-pulmonary vital capacity 37%; sleep study severe hypoventilation, non-invasive nocturnal ventilation was commenced; crawl-10m, walk-15m
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2012-03-18 14:27:26 +01:00 (CET)
Date last edited	2012-03-18 14:30:01 +01:00 (CET)

Global Variome shared LOVD