Global Variome shared LOVD

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

Phenotype #0000171350 Individual ID 00226225 Associated disease MPS3C Phenotype details Hyperactivity (HP:0000752),intelectual disability, progressive (HP:0006887), dysostosis multiplex (HP:0000943), hepatomegaly (HP:0002240), splenomegaly (HP:0001744) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 10y06m (10 years, 6 months) Age/Diagnosis 10y Age/Onset 02y Phenotype/Onset Intelectual disability, progressive (HP:0006887), speech delay (HP:0000750) Protein - Owner name Carla Martins Database submission license No license selected Created by Carla Martins Date created 2019-03-04 14:44:10 +01:00 (CET) Date last edited 2019-03-05 08:23:26 +01:00 (CET)

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