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female-restricted syndromic X-linked intellectual disability 99
Summary
- Synonym
-
- MRXS99F
- X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
- female-restricted syndromic X-linked mental retardation 99
- Definition
- A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4.
- Super Class
- X-linked dominant disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0112025
- Mondo Disease Ontology
- OMIM
- GARD
Related Genes
