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holoprosencephaly 9
Summary
- Synonym
-
- HPE9
- holoprosencephaly with microphthalmia and first branchial arch anomalies
- pituitary anomalies with holoprosencephaly-like features
- Definition
- A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.
- Super Class
- autosomal dominant disease holoprosencephaly
External Links
- Disease Ontology
- DOID:0110873
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001680 | Coarctation of aorta |
| HP:0002418 | Abnormal midbrain morphology |
| HP:0002474 | Expressive language delay |
| HP:0003468 | Abnormal vertebral morphology |
| HP:0004478 | Ethmoidal encephalocele |
| HP:0007375 | Abnormal septum pellucidum morphology |
| HP:0012110 | Hypoplasia of the pons |
| HP:0012650 | Perisylvian polymicrogyria |
| HP:0100710 | Impulsivity |
| HP:0000322 | Short philtrum |
