Global Variome shared LOVD

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

Phenotype #0000270844 Individual ID 00375631 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite JDVS Inheritance Isolated (sporadic) Phenotype details see paper; ..., birth weight 3,2kg; height SD−2.7; weight SD−1.8; OFC SD−2.5; moderate intellectual disability; hypotonia; normal behavior; broad forehead; low-set, posteriorly rotated ears; upturned nose; thin upper lip; broad mouth; feeding difficulty; no gastro esophageal reflux and/or vomiting; small hands; small feet; hyperlordosis; no periodic illnessc; high pain threshold; no congenital abnormalities; hyper-metropia, strabismus; hypoplastic nails; recurrent infections Age/Examination 18y (18 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 2021-06-14 16:11:36 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.