Global Variome shared LOVD

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

Phenotype #0000309970 Individual ID 00418628 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., birth 37w, pregnancy/delivery uncomplicated; weight 2nd%, height 24th%, OFC 25th%; motor delay; speech delay; special education; bilateral epicanthal folds, triangular upper lip, fullness of periorbital region, long thin fingers; poor feeding; hypotonia; velopharyngeal insufficiency; buccofacial dyspraxia Inheritance Isolated (sporadic) Age/Examination 10y06m (10 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-10-03 11:59:10 +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.