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 InternationalCreative Commons License
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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.