Phenotype #0000306865

Individual ID 00415064
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., profound developmental delay, no speech, unable to sit; 1d-epileptic spasms, focal, multifocal seizures; 3d-MRI ventriculomegaly, abnormal signal intensity of the white matter, bilateral temporal and left occipital pachygyria; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; no ophthalmologic features
Inheritance Familial, autosomal dominant
Age/Examination 06y (6 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2022-08-06 22:07:04 +02:00 (CEST)
Date last edited 2022-08-08 15:15:03 +02:00 (CEST)

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.