Phenotype #0000000957

Individual ID 00001978
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment family analysis; facial similarities to her brother, Head circumfrence < 1 SD, hyperactive, aggressive, cleft soft palate, pyloric stenosis
Biochem cholesterol: 1769 ug/ml, 7DHC: 63 ug/ml
Protein -
Severity_score -
Age/Diagnosis 02y
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 2010-03-22 17:44:02 +01:00 (CET)
Date last edited 2012-10-01 15:16:43 +02:00 (CEST)

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