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GTR Home > Conditions/Phenotypes > Holoprosencephaly 4

Holoprosencephaly 4

Summary

A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis. [from NCI]

Available tests

37 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HPE4, TGIF, TGIF1
    Summary: TGFB induced factor homeobox 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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