Global Variome shared LOVD

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

Phenotype #0000155198 Individual ID 00207421 Associated disease LS Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 00y04m Phenotype/Onset - Phenotype details Leigh-like, developmental delay, hypotonia, seizures, elevated lactic acid and alanine levels in the urine Protein - Owner name Sze Chern Lim Database submission license No license selected Created by Sze Chern Lim Date created 2018-11-22 08:10:06 +01:00 (CET) Date last edited N/A

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