Phenotype #0000001266

Individual ID 00002287
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset <00y00m00d
Age/Examination -
Phenotype/Onset -
Phenotype details onset prenatal; ascertainment clinical presentation; at birth: hypotonia, microcephaly, short anteverted nares, micrognathia, cleft palate, 2-3 toe syndactyly, feeding problems. Adrenal insufficiency
Biochem cholesterol: 1.67 mmol/l, 7DHC: 1.326 mol/l
Protein -
Severity_score 61
Age/Diagnosis 00y00m22d
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 2012-08-02 14:24:41 +02:00 (CEST)
Date last edited 2012-12-20 14:37:14 +01:00 (CET)

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