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non-syndromic X-linked intellectual disability 99
Summary
- Synonym
-
- MRX99
- X-linked mental retardation 99
- Definition
- A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4.
- Super Class
- X-linked recessive disease non-syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0112026
- Mondo Disease Ontology
- OMIM
Related Genes
