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 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked dominant disease