Global Variome shared LOVD

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

Phenotype #0000338722 Individual ID 00449548 Associated disease NDD Diagnosis/Initial developmental delay, intellectual disability, dysmorphic features Diagnosis/Definite - Phenotype details see paper; ..., no prenatal complications; developmental delay and/or intellectual disability; delayed speech, delayed language; autism; attention deficit hyperactivity disorder; no hypotonia; no seizure; brain MRI/CT normal; no cardiovascular anoalies; no genitourinary anomalies; no gastrointestinal anomalies; deep-set eyes, up-slanting palpebral fissures, slightly posteriorly rotated ears; Inheritance Isolated (sporadic) Age/Examination 20y (20 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 2024-04-22 10:35:23 +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.