Phenotype #0000001338

Individual ID 00002359
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset 00y00m01d
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; unusual skin manifestation of sacral dimple, microcepahly, micrognathia, atresia choanae, short neck, 2-3 toe syndactyly, polydactyly, pedes calcanei planovalgi, endocardial cushion defect, hepatomegaly, scoliosis, anal stenosis, megacolon congenitume
Biochem -
Protein -
Severity_score -
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 2013-03-14 09:29:48 +01:00 (CET)
Date last edited N/A

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