Phenotype #0000137336

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00172472
Associated disease	?
Diagnosis/Initial	MCAHS2 [MIM 300868]
Diagnosis/Definite	MCAHS-2
Phenotype details	profound mental retardation, infantile spasm, profound retardation, axial hypotonia, epileptic seizures, hypsarrhythmia
Inheritance	Familial, X-linked recessive
Age/Examination	-
Age/Diagnosis	-
Age/Onset	5m
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Guy Froyen
Database submission license	No license selected
Created by	Guy Froyen
Date created	2013-11-05 15:45:32 +01:00 (CET)
Date last edited	2013-11-21 09:46:11 +01:00 (CET)

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