Phenotype #0000361822

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00477215
Associated disease	CNMX
Phenotype details	HP:0001290 (Generalized hypotonia); HP:0001324 (Muscle weakness); HP:0001558 (Decreased fetal movement)
Diagnosis/Initial	myopathy
Inheritance	Familial, X-linked recessive
Diagnosis/Definite	CNMX
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Lucia Rodriguez-Noriega Béjar
Database submission license	No license selected
Created by	Lucia Rodriguez-Noriega Béjar
Date created	2026-04-23 15:24:23 +02:00 (CEST)
Date last edited	2026-04-28 13:43:44 +02:00 (CEST)

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