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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:0000873 | Diabetes insipidus |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001254 | Lethargy |
| HP:0001257 | Spasticity |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0001328 | Specific learning disability |
| HP:0001344 | Absent speech |
| HP:0001371 | Flexion contracture |
