Global Variome shared LOVD

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

Phenotype #0000356841 Individual ID 00472032 Associated disease ID Diagnosis/Initial intelleellectual disabilityctual disability Diagnosis/Definite DIJOS Inheritance Isolated (sporadic) Phenotype details see paper; ..., pregnancy complicated by little liquid excess; birth weight 2650g; mild intellectual disability; motor delay; 16m-walk; language delay; height -2.5SD, OFC -0.5SD; autism spectrum disorder; no epilepsy; no hypotonia (childhood); MRI brain thick corpus callosum; hypospadia; neonatal feeding difficulties, slow drinking; no eye abnormalities; no hearing loss; no joint hypermobility; scoliosis; no hand/feet abnormalities; long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; broad nasal tip; low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; posteriorly rotated ears, small palpebral fissures Age/Examination 7y (7 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 2026-01-05 20:42:40 +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.