holoprosencephaly 12 (DOID:0081398)
Alliance: disease page
Synonyms: holoprosencephaly-12 with or without pancreatic agenesis
Alt IDs: OMIM:618500
Definition: A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21.