Global Variome shared LOVD

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

Phenotype #0000356834 Individual ID 00472025 Associated disease ID Diagnosis/Initial intelleellectual disabilityctual disability Diagnosis/Definite DIJOS Inheritance Unknown Phenotype details see paper; ..., uncomplicated pregnancy; motor delay; height -1.7SD, OFC -2.5SD; no epilepsy; hypotonia (childhood); MRI brain normal; pulmonary capillary hemangiomatosis; no neonatal feeding difficulties; no eye abnormalities; no hearing loss; no joint hypermobility; no scoliosis; no hand/feet abnormalities; 6m-pulmonary hypertension due to pulmonary capillary hemangiomatosis and severe microangiopathy; no long ears; no upslanted palpebral fissures; no downslanted palpebral fissures; no ptosis; no broad nasal tip; no low hanging columella; no thin upper lip vermillion; no wide mouth; no pointed chin Age/Examination 9m 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.