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non-syndromic X-linked intellectual disability 41
Summary
- Synonym
-
- MRX41
- MRX48
- X-linked mental retardation 41
- X-linked mental retardation 48
- Definition
- A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28.
- Super Class
- X-linked dominant disease non-syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0112058
- Mondo Disease Ontology
- OMIM
