holoprosencephaly 12

Term ID

DOID:0081398

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. https://pubmed.ncbi.nlm.nih.gov/31006510/

References

• OMIM:618500

Ontology

Human Disease   ( DOID:0081398 )