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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:0002360 | Sleep abnormality |
| HP:0003593 | Infantile onset |
| HP:0003623 | Neonatal onset |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0010942 | Echogenic intracardiac focus |
| HP:0011461 | Fetal onset |
| HP:0011463 | Childhood onset |
