Global Variome shared LOVD

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

Phenotype #0000232562 Individual ID 00306728 Associated disease GM1G3 Phenotype details HP:0007256 Abnormal pyramidal sign HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0001249 Intellectual disability HP:0007153 Progressive extrapyramidal movement disorder Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 06y Age/Onset 05y 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 14:41:19 +02:00 (CEST) Date last edited 2020-07-20 09:03:43 +02:00 (CEST)

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