Global Variome shared LOVD

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

Phenotype #0000355626 Individual ID 00470730 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; hypotonia; 9m-sit; 3y-walk4m-walk; speech 3y-first words, full sentences; moderate intellectual disability; no autism spectrum disorder; behaviour normal; 2y-epilepsy; EEG 9y-left parietal epileptiform paroxysms, 12y-diffuse slowdown in brain electrical activity; MRI normal; prominent forehead, hypertelorism, upslanting palpebral fissures, prominent columella; no ophthalmological features; hypertrichosis; hyperlaxity, frontal hyperostosis; cardiopathy (mild aortic insufficiency, dilated cardiomyopathy); normal kidney; 10y-hypothyroidism Age/Examination 14y (14 years) 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 2025-12-08 15:51:34 +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.