Phenotype #0000001189

Individual ID 00002210
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; micrognathia, behavioral problems with an autistic component, and is self-abusive
Biochem cholesterol: 940 ug/ml, 7DHC: 81 ug/ml
Protein -
Severity_score 17
Age/Diagnosis 01y06m
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 2012-06-04 15:12:08 +02:00 (CEST)
Date last edited 2012-10-01 13:44:25 +02:00 (CEST)

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