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non-syndromic X-linked intellectual disability 104
Summary
- Synonym
-
- MRX104
- X-linked mental retardation 104
- Definition
- A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2.
- Super Class
- X-linked recessive disease non-syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0112018
- Mondo Disease Ontology
- OMIM
