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GTR Home > Conditions/Phenotypes > Anencephaly 1

Anencephaly 1

Summary

Anencephaly is characterized by the absence of cranial vault and brain tissues in the fetus. It is considered an extreme form of neural tube defect (182940) (summary by Singh et al., 2017). Genetic Heterogeneity of Anencephaly See also anencephaly-2 (ANPH2; 619452), caused by mutation in the NUAK12 gene (608131) on chromosome 1q32. [from OMIM]

Available tests

1 test is in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ANPH, ANPH1, HAPRIN, RBCC728, RNF98, TRIM36
    Summary: tripartite motif containing 36

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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