Phenotype #0000292028

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00398939
Associated disease	MYOP
Phenotype details	2m-deceased, newborn hypotonia; no ptosis; ophthalmoplegia; facial weakness; flexor weakness; proximal weaksness, distal weakness; nasogastric tube until death; noninvasive ventilation until death
Diagnosis/Initial	congenital myopathy
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	-
Age/Examination	2m
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

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