Global Variome shared LOVD

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

Phenotype #0000015361 Individual ID 00017002 Associated disease MRX;IDX Phenotype details see paper; ..., profound developmental delay; no speech, easily provoked laughter; sleep disturbance (1/3); epilepsy; ataxia; hyperkinetic movements; squint; microcephaly; open mouth, drooling; swallowing difficulty (1/3); flexed arms (1/3); ECG epileptiform activity, background frequency 4-7 Hz Diagnosis/Initial intellectual disability Inheritance Familial, X-linked recessive Diagnosis/Definite MRXSCH Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2010-10-23 11:10:00 +02:00 (CEST) Date last edited 2025-03-14 19:34:33 +01:00 (CET)

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