Global Variome shared LOVD

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

Phenotype #0000272468 Individual ID 00377317 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details velopharyngeal insufficiency; patent ductus arteriosus (surgery); bitemporal narrowing, downslanting palpebral fissures, malar hypoplasia, short philtrum, small mouth; short hands and feet; moderate/severe intellectual disability; walk-26m; autism; feeding problems, sleep disorder, GE-reflux, hypotonia, hyperlaxity, hypoplastic nipples Inheritance Isolated (sporadic) Age/Examination 2y3m (2 years, 3 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-07-22 10:42:59 +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.