Phenotype #0000021591

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00025480
Associated disease	MDC
Phenotype details	He had hypotonia and delayed motor milestones from birth. His head circumference was 48 cm when he was 8 years old and there was muscle weakness and absence of tendon reflexes. He also had optic atrophy. His serum CK level was 2174 U/L.
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Yanghaipo
Database submission license	No license selected
Created by	Yanghaipo
Date created	2014-12-10 14:45:19 +01:00 (CET)
Date last edited	2014-12-12 13:08:43 +01:00 (CET)