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non-syndromic X-linked intellectual disability 1
Summary
- Synonym
-
- MRX1
- MRX18
- MRX78
- X-linked mental retardation 1
- X-linked mental retardation 1/78
- X-linked mental retardation 18
- X-linked mental retardation 78
- Definition
- A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22.
- Super Class
- X-linked dominant disease non-syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0112038
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
