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holoprosencephaly 12
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease holoprosencephaly
External Links
- Disease Ontology
- DOID:0081398
- Mondo Disease Ontology
- OMIM
