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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:0002119 | Ventriculomegaly |
| HP:0002126 | Polymicrogyria |
| HP:0002280 | Enlarged cisterna magna |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0002465 | Poor speech |
| HP:0002518 | Abnormal periventricular white matter morphology |
| HP:0002553 | Highly arched eyebrow |
| HP:0002650 | Scoliosis |
| HP:0002786 | Tracheobronchomalacia |
| HP:0003086 | Acromesomelia |
