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MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P63000 | Ras-related C3 botulinum toxin substrate 1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000708 | Atypical behavior |
| HP:0000733 | Motor stereotypy |
| HP:0000819 | Diabetes mellitus |
| HP:0000964 | Eczematoid dermatitis |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001263 | Global developmental delay |
| HP:0001270 | Motor delay |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0001344 | Absent speech |
