female-restricted syndromic X-linked intellectual disability 99 (DOID:0112025)
Alliance: disease page
Synonyms: female-restricted syndromic X-linked mental retardation 99; MRXS99F; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Alt IDs: OMIM:300968
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.