Global Variome shared LOVD

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

Phenotype #0000356939 Individual ID 00472131 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRXSSD Inheritance Familial, X-linked recessive Phenotype details see paper; ..., intellectual disability, cleft lip, cleft palate, long face, broad nasal tip; large hands pre-axial polydactyly cryptorchidism, thoracal scoliosis Age/Examination - Age/Diagnosis - 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 2026-01-08 11:43:28 +01:00 (CET) Date last edited 2026-01-08 16:38:00 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.