Phenotype #0000001028

Individual ID 00002049
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; head circumference < -3 SD, severe hypotonia, anteverted nares, coloboma, 2-3 toe syndactyly, polydactyly, reflux vesicoureteral, simple hypospadia
Biochem cholesterol: 564 ug/ml, 7DHC: 78 ug/ml, 8DHC: 47 ug/ml
Protein -
Severity_score 25
Age/Diagnosis 06y
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 2010-04-26 18:01:28 +02:00 (CEST)
Date last edited 2012-07-12 16:57:29 +02:00 (CEST)

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