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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:0000369 | Low-set ears |
| HP:0000637 | Long palpebral fissure |
| HP:0000664 | Synophrys |
| HP:0000729 | Autistic behavior |
| HP:0000752 | Hyperactivity |
| HP:0001252 | Hypotonia |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0001511 | Intrauterine growth retardation |
| HP:0002195 | Dysgenesis of the cerebellar vermis |
| HP:0002198 | Dilated fourth ventricle |
