Global Variome shared LOVD

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

Phenotype #0000356840 Individual ID 00472031 Associated disease ID Diagnosis/Initial intelleellectual disabilityctual disability Diagnosis/Definite DIJOS Inheritance Isolated (sporadic) Phenotype details see paper; ..., pregnancy complicated by polyhydramnios, 33wg-premature birth; birth weight 1615g; developmental delay; motor delay; 17m-walk; language delay; height <-2.5SD, OFC ND; normal behavior; no epilepsy; no hypotonia (childhood); MRI brain white matter gliosis; heterotaxy, interrupted inferior vena cava, duodenal atresia, visceral situs ambigous; neonatal feeding difficulties; myopia, astigmatism; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; growth hormone deficiency; vit.D-deficiency; no long ears; no upslanted palpebral fissures; downslanted palpebral fissures; ptosis; broad nasal tip; no low hanging columella; thin upper lip vermillion; wide mouth; pointed chin; frontal bossing Age/Examination 5y (5 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.