Phenotype #0000155200

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00207422
Associated disease	LS
Inheritance	Familial, autosomal recessive
Diagnosis/Initial	-
Age/Examination	00y04m (4 months)
Diagnosis/Definite	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Phenotype details	blood and CSF lactate levels, and blood pyruvate level were elevated. Cranial MRI showed high-intensity signals in the putamen. Poor neurological development with myoclonic spasms, cortical blindness, and feeding difficulties.
Protein	-
Owner name	Sze Chern Lim
Database submission license	No license selected
Created by	Sze Chern Lim
Date created	2018-11-22 08:25:53 +01:00 (CET)
Date last edited	N/A

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