Phenotype #0000001268

Individual ID 00002289
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; broad nasal bridge, epicanthal folds, capillary forehead, cleft palate, postaxial polydactyly, external genitalia were female
Biochem cholesterol: 0.63 mmol/l
Protein -
Severity_score 61
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 2012-08-03 14:26:29 +02:00 (CEST)
Date last edited 2012-12-20 14:40:31 +01:00 (CET)

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