Phenotype #0000001297

Individual ID 00002318
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset 00y00m01d
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; bilateral incomplete 2-3 toe syndactyly, clinodactyly, single transverse palmar crease (right hand), microcephaly
Biochem cholesterol: 3,47 mM, 7DHC: 130 mg/l
Protein -
Severity_score 10
Age/Diagnosis -
Owner name István Balogh
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck
Date created 2012-12-11 09:22:10 +01:00 (CET)
Date last edited 2013-03-08 14:20:46 +01:00 (CET)

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