Phenotype #0000001367

Individual ID 00002388
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset 00y00m01d
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; multiple congenital anomalies, failure to thrive, mental retardation
Biochem 7DHC: 23.9 mg/dl
Protein -
Severity_score -
Age/Diagnosis -
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck
Date created 2013-03-21 16:14:46 +01:00 (CET)
Date last edited 2013-03-21 17:03:34 +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.