GTR Home > Conditions/Phenotypes > Holoprosencephaly 7


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). [from OMIM]

Genes See tests for all associated and related genes

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

Clinical features


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