Phenotype #0000257139

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00361748
Associated disease	CMYO2A;NEM3
Phenotype details	type 1 fibre atrophy in the proband daughter, onset early childhood in daughter, age 11 in father.
Diagnosis/Initial	-
Inheritance	Familial, autosomal dominant
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Nigel Laing
Database submission license
Created by	Nigel Laing
Date created	2021-04-09 02:27:02 +02:00 (CEST)
Date last edited	N/A

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