" /> Holoprosencephaly 7 - CISMeF





Preferred Label : Holoprosencephaly 7;

Symbol : HPE7;

CISMeF acronym : HPE7;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the patched 1 gene (PTCH1, 601309.0011);

Prefixed ID : #610828;

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27/07/2025


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