Global Variome shared LOVD

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

Phenotype #0000155196 Individual ID 00207420 Associated disease LS Inheritance Familial, autosomal recessive Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset 00y06m Phenotype/Onset - Phenotype details Lactic acidosis in blood and CSF (HP:0003128), hypotonic, seizures commenced before 8mo, severe hearing deficit and visual impairment Protein - Owner name Sze Chern Lim Database submission license No license selected Created by Sze Chern Lim Date created 2018-11-22 07:56:46 +01:00 (CET) Date last edited 2018-11-22 09:26:57 +01:00 (CET)

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