Phenotype #0000000973

Individual ID 00001994
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; seizures, 2-3 toe syndactyly, simple cystic kidney disease
Biochem very high 7-DHC
Protein -
Severity_score 15
Age/Diagnosis 35y
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 2010-03-24 18:03:13 +01:00 (CET)
Date last edited 2012-07-12 16:16:02 +02:00 (CEST)

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