Global Variome shared LOVD

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

Phenotype #0000359560 Individual ID 00474767 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite FGLDS1;DEE17 Phenotype details see paper; ..., weight 10-25th, height 10th, OFC <3th; brachymesophalangy, clynodactyly, hypoplasia 5th finger/toe, hallux valgus; no short palpebral fissures; severe intellectual disability; duodenal atresia; no cardiac abnormality; no renal abnormalities; no hearing loss; epilepsy Inheritance Familial, autosomal dominant Age/Examination 15y (15 years) 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 2026-03-25 14:36:19 +01:00 (CET) Date last edited 2026-03-25 14:54:21 +01:00 (CET)

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