Phenotype #0000356795

Individual ID 00471986
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite -
Phenotype details see paper; ..., brith 33+5 (twin pregnancy); delayed motor development, 18m-walk; mild intellectual disability; speech dealy, speaks full sentences (sometimes mumbling); autism (PDD-NOS); ADHD, behavorial difficulties, tantrums; 13y-focal seizures, 1y/1y6m-possible seizure; weak upper leg musculature (anamnestically); plagiocephaly, low hanging columella, thin lips, square chin
Inheritance Familial, autosomal dominant
Age/Examination 15y (15 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 2026-01-05 12:55:15 +01:00 (CET)
Date last edited N/A

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.