Phenotype #0000003238

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00004531
Associated disease	PCH6
Phenotype details	neonatal lactic acidosis, hypotonia, developmental delay, seizures, cortical atrophy, pontocerebellar hypoplasia on MRI
Diagnosis/Initial	-
Inheritance	Unknown
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Carl Fratter
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2014-02-02 21:27:19 +01:00 (CET)
Date last edited	N/A

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