Phenotype #0000000967

Individual ID 00001988
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details neonatal cholestasis, microcephaly, micrognathia, a small nose with anteverted nares, ambiguous genitalia, cleft palate, simian line, (bilateral) 2-3 toe syndactyly
Biochem cholesterol: 210 ug/mL, 7DHC: 567 ug/mL
Protein -
Severity_score 55
Age/Diagnosis 00y04m
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 2010-03-24 14:22:25 +01:00 (CET)
Date last edited 2012-07-13 12:57:10 +02:00 (CEST)

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