female-restricted syndromic X-linked intellectual disability 99

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 c

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.

Signs and symptoms

• Global developmental delay
• Ventriculomegaly
• Hearing impairment
• Scoliosis
• Hypoplasia of the corpus callosum
• Cerebellar hypoplasia
• Anal atresia
• Postaxial polydactyly
• Recurrent respiratory infections
• Astigmatism

Also known as: MRXS99F; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability; female-restricted syndromic X-linked mental retardation 99