Phenotype #0000300862

Individual ID 00408743
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., see paper; ..., mild developmental delay/intellectual disability; autistic behaviour; no hypotonia; EEG subtle slowing and sharp activity over left temporal region during sleep, 4-5 generalised seizures, onset 14y, on valproate and lamotrigine; no dysmorphism; no cardiac malformation; no ocular abnormalities; no renal malformation
Age/Examination 26y (26 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.