Global Variome shared LOVD

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

Phenotype #0000232918 Individual ID 00307112 Associated disease GM1G1 Phenotype details HP:0010729 Cherry red spot of the macula HP:0002910 Elevated hepatic transaminase HP:0001508 Failure to thrive HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002240 Hepatomegaly HP:0001744 Splenomegaly Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 02y Age/Onset 02y Phenotype/Onset - Protein - Owner name Sarah Snanoudj Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Sarah Snanoudj Date created 2020-07-31 16:59:35 +02:00 (CEST) Date last edited 2020-08-04 21:49:26 +02:00 (CEST)

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