Phenotype #0000000950

Individual ID 00001971
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; postaxial polydactyly, 2-3 toe syndactyly, hypospadia, decreased head circumference
Biochem elevated precursors of cholesterol, cholesterol: 227 ug/ml, 7DHC: 69 ug/ml, 8DHC: 69 ug/ml
Protein -
Severity_score 10
Age/Diagnosis 00y02m
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 2010-03-15 16:16:49 +01:00 (CET)
Date last edited 2012-07-13 13:12:21 +02:00 (CEST)

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