Phenotype #0000239681

Individual ID 00315936
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Isolated (sporadic)
Phenotype details sit-12m, walk-24m; 1st word 24m, combined words 36m; intellectual disability; no seizures; truncal hypotonia; gait narrow base of support, short choppy steps; autism, anxiety; excessive sleep (18h/day), low energy; iris brushfield spots, stellate pattern, brilliant blue; left iris coloboma; long eyelashes, synophyrs, nasolacrimal duct obstruction; myopia, exotropia; microcephaly, low set small ears, ear lobe creases, down pointing mouth, slight retrognathia ; pectus excavatum, 2–3 toe syndactyly; 2 maternal half-sisters attention deficit and hyperactivity
Age/Examination 4y11m (4 years, 11 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2020-10-30 15:23:09 +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.