Global Variome shared LOVD

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

Phenotype #0000337451 Individual ID 00448241 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite HSAN9 Inheritance Familial, autosomal recessive Phenotype details motor delay; hearing impairment; strabismus; laryngomalacia; umbilical hernia; skeletal anomalies; dysmorphic facial features Age/Examination 5y (5 years) Age/Diagnosis 5y5m 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 (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.