Phenotype #0000292330

Individual ID 00399218
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite NEDLIB
Inheritance Isolated (sporadic)
Phenotype details OFC 50th; developmental delayFocal, tonic-clonic; tonic-clonic seizures, focal seizures; autism spectrum disorder; stereotyped hand movements; no speech; brain MRI normal
Age/Examination 03y07m (3 years, 7 months)
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 2022-01-17 14:49:22 +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.
  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.