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non-syndromic X-linked intellectual disability 58
Summary
- Synonym
-
- MRX58
- X-linked mental retardation 58
- Definition
- A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4.
- Super Class
- X-linked recessive disease non-syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0112024
- Mondo Disease Ontology
- OMIM
