Phenotype #0000000975

Individual ID 00001996
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; cleft palate, polydactyly, 2-3 toe syndactyly
Biochem cholesterol: 287 ug/ml, 7DHC: 217 ug/ml
Protein -
Severity_score 43
Age/Diagnosis 00y07m
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 18:16:04 +01:00 (CET)
Date last edited 2012-07-13 13:23:38 +02:00 (CEST)

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