Global Variome shared LOVD

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

Phenotype #0000300863 Individual ID 00408744 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details see paper; ..., mild developmental delay/intellectual disability; autistic behaviour; hypotonia; no aspiration; EEG iIntermittent abnormal background cerebral rhythm at right occipital region, no epileptiform potentials, no clinical seizures noted; dysmorphism; dry skin; no cardiac malformation; no cardiac arrhythmia; exotropia; no renal malformation Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-04-27 00:00:11 +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.