Phenotype #0000000998

Individual ID 00002019
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; head circumference < 2 perc., 2-3 toe syndactyly, high arched palate with posterior cleft, micrognathia, wide nasal root, simple hypospadia
Biochem cholesterol: 196 ug/ml, 7DHC: 116 ug/ml, 8DHC: 60 ug/ml
Protein -
Severity_score 20
Age/Diagnosis 03y08m
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 2010-04-09 16:21:46 +02:00 (CEST)
Date last edited 2012-05-18 11:32:03 +02:00 (CEST)

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