Phenotype #0000001308

Individual ID 00002329
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; microcephaly, prenatal growth retardation, characteristic facial appearance, 2-3 toe syndactyly, pyrolic stenosis
Biochem cholesterol: 107 mg/dl, 7DHC: 35.0 mg/dl
Protein -
Severity_score -
Age/Diagnosis 05y
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 2012-12-20 15:36:18 +01:00 (CET)
Date last edited 2012-12-20 15:50:42 +01:00 (CET)

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