U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Holoprosencephaly 7

Holoprosencephaly 7

Summary

Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). [from OMIM]

Available tests

57 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (57 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BCNS, BCNS1, NBCCS, PTC, PTC1, PTCH, PTCH1
    Summary: patched 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.