Phenotype #0000000954

Individual ID 00001975
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details diagnosis fetal; ascertainment clinical presentation; postaxial polydactyly of left hand and both feet, 2-4 toe syndactyly, hypospadia, multiple heart defects, lung hypoplasia, hypertelorism, facial dysmorphisms,
Biochem -
Protein -
Severity_score 70
Age/Diagnosis <00y00m00d
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 2010-03-18 15:32:48 +01:00 (CET)
Date last edited 2012-04-19 16:58:46 +02:00 (CEST)

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