Phenotype #0000000959

Individual ID 00001980
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment family analysis; failure to thrive, mild splenomegaly, moderate global cognitive delay, chronic severe behavioral problems, attention deficit disorder, 2, 3 toe syndactyly
Biochem 7DHC: 25 ug/ml
Protein -
Severity_score 5
Age/Diagnosis 12y
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 18:19:48 +01:00 (CET)
Date last edited 2012-04-13 15:37:26 +02:00 (CEST)

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