Phenotype #0000001024

Individual ID 00002045
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details 2-3 toe syndactyly, seizures, hypoplasia of the corpus callosum
Biochem cholesterol: 290 ug/ml, 7DHC: 87 ug/ml
Protein -
Severity_score 10
Age/Diagnosis 15y
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 2010-04-22 08:47:51 +02:00 (CEST)
Date last edited 2012-07-12 16:54:58 +02:00 (CEST)

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