Phenotype #0000351785

Individual ID 00466421
Associated disease MRD20
Phenotype details Seizure, Failure to thrive, Motor delay, Delayed speech and language development, EEG abnormality, Abnormal liver morphology
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 02y (2 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 2025-08-29 12:22:46 +02:00 (CEST)
Date last edited 2025-08-29 19:42:17 +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.