Phenotype #0000305556

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00411326
Associated disease	BTHLM
Diagnosis/Initial	congenital myopathy
Diagnosis/Definite	-
Phenotype details	see paper; ..., myopathy; unremarkable pregnancy; 1d-hypotonia, soft skin, delayed motor milestones
Inheritance	Familial, autosomal recessive
Age/Examination	41y (41 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2022-07-19 15:04:27 +02:00 (CEST)
Date last edited	N/A

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