Phenotype #0000326485

Individual ID 00436305
Associated disease NEDSDV;MRD19
Phenotype details Neurodevelopmental abnormality, Intellectual disability, Dystonia, Hyperreflexia, Microcephaly, Attention deficit hyperactivity disorder, Esodeviation, Delayed speech and language development, Motor delay, Failure to thrive, Gait ataxia
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Birth_Details -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2023-09-01 14:38:40 +02:00 (CEST)
Date last edited 2023-10-04 10:22:39 +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.