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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:0006532 | Recurrent pneumonia |
| HP:0007033 | Cerebellar dysplasia |
| HP:0008527 | Congenital sensorineural hearing impairment |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009237 | Short 5th finger |
| HP:0009765 | Low hanging columella |
| HP:0011968 | Feeding difficulties |
| HP:0200007 | Abnormal size of the palpebral fissures |
| HP:0000006 | Autosomal dominant inheritance |
