Term Name: | female-restricted syndromic X-linked intellectual disability 99 |
---|---|
Synonyms: | female-restricted syndromic X-linked mental retardation 99, MRXS99F, X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability |
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. |
Ontology: | Human Disease [DOID:0112025] ( DOID:0112025 ) |