Global Variome shared LOVD

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

Phenotype #0000337445 Individual ID 00448235 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite HSAN9 Inheritance Familial, autosomal recessive Phenotype details polyhydramnios; decreased fetal movement; seizures. deceased. two affected siblings, deceased. Age/Examination 7y11m (7 years, 11 months) Age/Diagnosis 3y6m Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-02-23 14:52:21 +01:00 (CET) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.