Phenotype #0000292351

Individual ID 00399239
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite NEDLIB
Inheritance Isolated (sporadic)
Phenotype details OFC 10th -25th; developmental delayFocal, tonic-clonic; no seizures; autism spectrum disorder; no Rett syndrome like features; delayed speech; brain MRI normal; joint hyper-laxity
Age/Examination 06y (6 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 2022-01-17 14:51:24 +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.