Global Variome shared LOVD
FHL1 (four and a half LIM domains 1)
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Curator:
Johan den Dunnen
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Phenotype #0000043183
Individual ID
00056495
Associated disease
MDDGB
Phenotype details
see paper; II2 frequent cramps, enlarged calves, behavioural problems, ...; II3 hyperCK, cramps from age 6, enlarged calves., right bundle branch block, ...
Diagnosis/Initial
-
Inheritance
Isolated (sporadic)
Diagnosis/Definite
-
Age/Examination
-
Age/Diagnosis
-
Age/Onset
-
Phenotype/Onset
proximal limb weakness; proximal limb weakness
Protein
-
Owner name
Johan den Dunnen
Database submission
license
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International
Created by
Johan den Dunnen
Date created
2015-08-28 19:51:29 +02:00 (CEST)
Date last edited
N/A
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