Term Name: | holoprosencephaly 12 |
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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 ) |