Global Variome shared LOVD

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

Phenotype #0000350414 Individual ID 00464391 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); no feeding difficulties; 2y-delayed walking; learning issues; normal behaviour; speech issues; no seizures; hypotonia (HP:0001290); no facial dysmorphism; complex heterotaxy congenital heart disease with DORV, hypoplastic RV, left SVC/IVC, tricuspid atresia, severe PS, TAPVR; no skeletal anomalies; normal connective tissue; midline liver Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset <0d 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 2025-03-08 17:44:25 +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.