Phenotype #0000001267

Individual ID 00002288
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; prematurely terminated fetus with microcephaly, and hypotelorism, cleft palate, 2-3 toe syndactyly, ambiguous genitalia. Holoprosencephaly
Biochem 7DHC: 423 umol/l
Protein -
Severity_score 88
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 2012-08-02 15:32:47 +02:00 (CEST)
Date last edited 2012-12-20 14:39:46 +01:00 (CET)

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