Global Variome shared LOVD

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

Phenotype #0000233178 Individual ID 00307575 Associated disease GM1G1 Phenotype details HP:0003330 Abnormal bone structure HP:0001999 Abnormal facial shape HP:0002086 Abnormality of the respiratory system HP:0010729 Cherry red spot of the macula HP:0002015 Dysphagia HP:0001290 Generalized hypotonia HP:0001263 Global developmental delay HP:0002240 Hepatomegaly HP:0002344 Progressive neurologic deterioration HP:000320 Skeletal muscle atrophy HP:0000505 Visual impairment Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis 00y04m Age/Onset 00y03m Phenotype/Onset - Protein - Owner name Sarah Snanoudj Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Sarah Snanoudj Date created 2020-08-14 16:48:54 +02:00 (CEST) Date last edited 2020-08-18 08:14:24 +02:00 (CEST)

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