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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:0000028 | Cryptorchidism |
| HP:0000047 | Hypospadias |
| HP:0000194 | Open mouth |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000363 | Abnormal earlobe morphology |
| HP:0000403 | Recurrent otitis media |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000426 | Prominent nasal bridge |
| HP:0000463 | Anteverted nares |
