Holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is a developmental disorder characterized by abnormal separation of the embryonic forebrain (HPE) resulting in dysmorphic facial features and often, but not always, impaired neurologic development. Most patients with this form of HPE also have congenital absence of the pancreas, resulting in early-onset type 1 diabetes mellitus and requiring pancreatic enzyme replacement. Other features may include hearing loss and absence of the gallbladder (summary by De Franco et al., 2019 and Kruszka et al., 2019).
For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). [from OMIM]
- MedGen UID:
- 1684550
- •Concept ID:
- C5193131
- •
- Disease or Syndrome