Phenotype #0000352335

Individual ID 00467128
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., seizures, bilateral tonic-clonic seizure, bilateral tonic-clonic seizure with generalized onset; EEG generalized slow activity; Babinski sign; autism; abnormal repetitive mannerisms; bruxism; recurrent hand flapping; hand clenching; stereotypical body rocking; no speech; global developmental delay; inability to walk; abnormal cerebral white matter morphology; failure to thrive; breathing dysregulation; hyperventilation; generalized hypotonia
Inheritance Familial, autosomal recessive
Age/Examination -
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 2025-10-08 11:17:07 +02:00 (CEST)
Date last edited 2025-10-08 11:38:47 +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.