Phenotype #0000001269

Individual ID 00002290
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details spontaneous abortion; ascertainment clinical presentation, prenatal diagnosis; broad nasal bridge, epicanthal folds, low set ears, micrognathia, short thumbs, hexadatyly, 2-3 toe syndactyly, ambiguous genitalia, clubfeet
Biochem cholesterol: 7.6 mg/dl, 7DHC: 52 ug/ml
Protein -
Severity_score 80
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 14:35:37 +02:00 (CEST)
Date last edited 2012-12-20 14:38:57 +01:00 (CET)

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