Phenotype #0000001363

Individual ID 00002384
Associated disease SLOS
Inheritance Familial
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset <00y00m00d
Age/Examination -
Phenotype/Onset -
Phenotype details onset fetal; ascertainment clinical presentation; alobar holoprosencephaly, cyclopia, clubfoot, microcephaly, acrocephaly, midline proboscis, no nose or philtrum, clinodactyly, NO polydactyly
Biochem 7DHC: 9.89 ng/ml
Protein -
Severity_score -
Age/Diagnosis 24 week fetus
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 2013-03-18 11:37:04 +01:00 (CET)
Date last edited N/A

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