Phenotype #0000000986

Individual ID 00002007
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; head circumference < -1 SD, ptosis, anteverted nares, 2-3 toe syndactyly, pyloric stenosis
Biochem cholesterol: 770 ug/ml, 7DHC: 60 ug/ml, 8DHC: 41 ug/ml
Protein -
Severity_score 16
Age/Diagnosis 10y
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 2010-03-25 18:39:01 +01:00 (CET)
Date last edited 2012-05-18 11:26:11 +02:00 (CEST)

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