Phenotype #0000337764

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00448529
Associated disease	MYOP
Phenotype details	delay in motor milestones, fatigable proximal limb weakness, difficulty to get up from squatting position, difficulty in doing overhead activities, toe walking with frequent falls, chewing and swallowing difficulties
Diagnosis/Initial	myopathy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	MFM8
Age/Examination	09y (9 years)
Age/Diagnosis	09y
Age/Onset	04y
Phenotype/Onset	-
Protein	-
Owner name	Gautham Arunachal
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2024-04-09 08:07:23 +02:00 (CEST)
Date last edited	N/A

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