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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:0000478 | Abnormality of the eye |
| HP:0000601 | Hypotelorism |
| HP:0000708 | Atypical behavior |
| HP:0000716 | Depression |
| HP:0000737 | Irritability |
| HP:0000739 | Anxiety |
| HP:0000741 | Apathy |
| HP:0000818 | Abnormality of the endocrine system |
| HP:0000824 | Decreased response to growth hormone stimulation test |
| HP:0000871 | Panhypopituitarism |
