Phenotype #0000000985

Individual ID 00002006
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; head circumference < 3 perc., seizures, 2-3 toe syndactyly, hypoplasia of lung, simple hypospadia
Biochem cholesterol: 400 ug/ml, 7DHC: 296 ug/ml
Protein -
Severity_score 25
Age/Diagnosis 00y05m
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 18:32:34 +01:00 (CET)
Date last edited 2012-04-19 17:32:33 +02:00 (CEST)

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