Phenotype #0000231929

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00306081
Associated disease	MD
Phenotype details	max milestone 4y6m-sit aided; no contractures; elevated CK level (highest 736 U/L); ECG normal; UCG-normal; EMG-myogenic; muscle biopsy 4.5y-dystrophic
Diagnosis/Initial	LMNA-related congenital muscular dystrophy
Inheritance	Isolated (sporadic)
Diagnosis/Definite	CMD
Age/Examination	4y6m (4 years, 6 months)
Age/Diagnosis	-
Age/Onset	1y
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-07 09:28:36 +02:00 (CEST)
Date last edited	N/A

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