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non-syndromic X-linked intellectual disability 106
Summary
- Synonym
-
- MRX106
- X-linked mental retardation 106
- Definition
- A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1.
- Super Class
- non-syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0080240
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000639 | Nystagmus |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0000219 | Thin upper lip vermilion |
| HP:0001263 | Global developmental delay |
| HP:0000047 | Hypospadias |
| HP:0001647 | Bicuspid aortic valve |
| HP:0000316 | Hypertelorism |
| HP:0008734 | Decreased testicular size |
| HP:0000664 | Synophrys |
| HP:0000028 | Cryptorchidism |
