Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000155200 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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