Global Variome shared LOVD

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

Phenotype #0000338843 Individual ID 00449669 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., developmental delay; hypotonia and/or muscle weakness; no other neurologic findings; history of poor height growth; history of poor weight gain; feeding difficulties; dysmorphic craniofacial features (eyes, cupped, asymmetric, low set, hypoplastic ears with bilateral preauricular pits, broad nasal root, ankyloglossia); no endocrine features; respiratory features; ophthalmologic features; no cardiac features; gastrointestinal features Inheritance Isolated (sporadic) Age/Examination 2y6m (2 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 2024-04-29 17:32:11 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.