Phenotype #0000333606

Individual ID 00444353
Associated disease CDLS2
Phenotype details Global developmental delay, Delayed speech and language development, Intellectual disability, Failure to thrive, Short stature, Microcephaly, Decreased body weight, Limited elbow extension
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 07y (7 years)
Age/Diagnosis -
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 2023-12-22 15:44:25 +01:00 (CET)
Date last edited 2024-01-03 12:29:37 +01:00 (CET)

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.