Phenotype #0000292007

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
Register as submitter | Log in

Individual ID	00398918
Associated disease	MYOP
Phenotype details	newborn hypotonia; 4y-walk; no ptosis; ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, no distal weakness; 4y-nocturnal noninvasive ventilation; scoliosis (11y-surgery); 12y-no cardiac involvement
Diagnosis/Initial	congenital myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	14y (14 years)
Age/Diagnosis	-
Age/Onset	1d
Phenotype/Onset	newborn hypotonia
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2022-01-14 16:20:15 +01:00 (CET)
Date last edited	N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.