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MIRAGE
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
- MeSH
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P10070 | Zinc finger protein GLI2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001508 | Failure to thrive |
| HP:0001510 | Growth delay |
| HP:0001627 | Abnormal heart morphology |
| HP:0002013 | Vomiting |
| HP:0002015 | Dysphagia |
| HP:0002019 | Constipation |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002033 | Poor suck |
| HP:0002270 | Abnormality of the autonomic nervous system |
| HP:0002363 | Abnormal brainstem morphology |
