Term Name: holoprosencephaly 12
Synonyms: holoprosencephaly-12 with or without pancreatic agenesis
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.
Ontology: Human Disease [DOID:0081398]   ( DOID:0081398 )

Relationships
is a type of: autosomal dominant disease holoprosencephaly