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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:0000104 | Renal agenesis |
| HP:0000736 | Short attention span |
| HP:0000772 | Abnormal rib morphology |
| HP:0000826 | Precocious puberty |
| HP:0000830 | Anterior hypopituitarism |
| HP:0000863 | Central diabetes insipidus |
| HP:0001273 | Abnormal corpus callosum morphology |
| HP:0001290 | Generalized hypotonia |
| HP:0001355 | Megalencephaly |
| HP:0001545 | Anteriorly placed anus |
