Phenotype #0000257459

Individual ID 00362046
Associated disease ?
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Phenotype details intellectual disability; motor developmental delay; speech delay; no ataxia; no seizures; normal tone; long face; no deep philtrum; tall forehead; high nasal bridge; no straight eyebrows; no strabismus; broad chin; upward-slanting palpebral fissures, broad nasal bridge, smooth philtrum, thin upper lip, chin dimple
Inheritance Isolated (sporadic)
Age/Examination 25y (25 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-04-15 11:18:09 +02:00 (CEST)
Date last edited N/A

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.