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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:0002451 | Limb dystonia |
| HP:0002465 | Poor speech |
| HP:0002540 | Inability to walk |
| HP:0002650 | Scoliosis |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0002827 | Hip dislocation |
| HP:0002871 | Central apnea |
| HP:0004322 | Short stature |
| HP:0005968 | Temperature instability |
| HP:0006315 | Solitary median maxillary central incisor |
