Phenotype #0000001275

Individual ID 00002296
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; 2-3 toe syndactyly, clinodactyly of the left 2nd finger
Biochem cholesterol: 3.1 mmol/l, 7DHC: 2.6 umol/l, 8DHC: 11.9 umol/l
Protein -
Severity_score 2
Age/Diagnosis -
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 2012-08-08 12:57:43 +02:00 (CEST)
Date last edited 2012-10-02 11:27:16 +02:00 (CEST)

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