Global Variome shared LOVD

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

Phenotype #0000352891 Individual ID 00467739 Associated disease NDD Diagnosis/Initial neurodevelopmental disorders Diagnosis/Definite - Phenotype details see paper; ..., mild intellectual developmental disorder; 24m-walk; 3y-first words; speech words associations; no autism spectrum disorder; nocturnal awakenings; no seizures; long face, broad forehead, arched eyebrows, tented philtrum, exaggerated cupid's bow; brachydactyly, hypoplastic fingernails and toenails; no postnatal growth retardation; distal hyperlaxity, strabismus, oligodontia of primary teeth (upper lateral incisors) Inheritance Isolated (sporadic) Age/Examination 4y (4 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 2025-10-29 10:02:21 +01:00 (CET) Date last edited N/A

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