Phenotype #0000001305

Individual ID 00002326
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; mild phenotype: 2-3 toe syndactyly, atrial septal defect, mental retardation, scoliosis, strabismus, hypacusis
Biochem cholesterol: 2,44 mM, 7DHC: 87 mg/l
Protein -
Severity_score 15
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 2012-12-11 10:39:19 +01:00 (CET)
Date last edited 2013-03-11 11:11:20 +01:00 (CET)

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