Phenotype #0000000976

Individual ID 00001997
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; microcephaly, 2-3 toe syndactyly, multiple facial dysmorphisms, cataracts, hexadactyly, cleft hard palate, progressive liver disease, ambigious genitalia
Biochem cholesterol: 60 ug/ml, 7DHC: 164 ug/ml, 8DHC: 119 ug/ml
Protein -
Severity_score 60
Age/Diagnosis -
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 18:23:47 +01:00 (CET)
Date last edited 2012-05-18 11:07:15 +02:00 (CEST)

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