Phenotype #0000000958

Individual ID 00001979
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; microcephaly, developmental delay,minor facial anomalies, minimal 2-3 toe syndactyly
Biochem high triglycerides, slightly elevated 7-DHC, cholesterol: 1130 ug/ml, 7DHC: 20 ug/ml
Protein -
Severity_score -
Age/Diagnosis 05y
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 2010-03-22 17:58:11 +01:00 (CET)
Date last edited 2012-05-18 10:54:22 +02:00 (CEST)

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