Holoprosencephaly 7
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Sign InDescription
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).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
207