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autosomal dominant intellectual developmental disorder 48
Summary
- Synonym
-
- autosomal dominant mental retardation 48
- Definition
- An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22.
- Super Class
- autosomal dominant intellectual developmental disorder
External Links
- Disease Ontology
- DOID:0080235
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001357 | Plagiocephaly |
| HP:0001382 | Joint hypermobility |
| HP:0001537 | Umbilical hernia |
| HP:0001627 | Abnormal heart morphology |
| HP:0001629 | Ventricular septal defect |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001647 | Bicuspid aortic valve |
| HP:0001655 | Patent foramen ovale |
| HP:0001999 | Abnormal facial shape |
| HP:0002079 | Hypoplasia of the corpus callosum |
