Global Variome shared LOVD

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

Phenotype #0000232561 Individual ID 00306727 Associated disease GM1G1 Phenotype details HP:0010729 Cherry red spot of the macula HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0001789 Hydrops fetalis HP:0000817 Poor eye contact HP:0000505 Visual impairment Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination - Age/Diagnosis 01y Age/Onset 00y04m Phenotype/Onset - Protein - Owner name Sarah Snanoudj Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Sarah Snanoudj Date created 2020-07-16 14:16:06 +02:00 (CEST) Date last edited 2020-07-20 09:04:50 +02:00 (CEST)

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