Phenotype #0000001282

Individual ID 00002303
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset 00y00m01d
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; multiple congenital abnormalities, facial dysmorphia, postaxial polydactyly, incomplete 2-3 toe syndactyly, complete 5-6 toe syndactyly, vertebral deformation, atrioventricular septal defect, open ductus Botalli, agenesis of the left kidney
Biochem cholesterol: 0,58 mM, 7DHC: 174 mg/l
Protein -
Severity_score 55
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 2012-10-11 14:58:54 +02:00 (CEST)
Date last edited 2013-03-11 12:09:05 +01:00 (CET)

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