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Summary Literature (0)
DOID:0081398 - holoprosencephaly 12

Disease Ontology 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.

Synonyms: holoprosencephaly-12 with or without pancreatic agenesis,

Xenbase Genes :



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), holoprosencephaly (is_a)