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Human Disease

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
Ontology
Human Disease   ( DOID:0081398 )
Relationships
is a type of
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Genes Involved
Zebrafish Models