Phenotype #0000337682

Individual ID 00448496
Associated disease SOTOS
Phenotype details Tall stature, Macrocephaly, Obesity, Neurodevelopmental delay, Generalized non-motor (absence) seizure, Short attention span, Intellectual disability, borderline, EEG with polyspike wave complexes
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 10y (10 years)
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2024-03-15 13:41:45 +01:00 (CET)
Date last edited 2024-03-16 12:36:20 +01:00 (CET)

Screenscraping/webscraping (interacting with LOVD using scripts to download data) 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.