syndromic X-linked intellectual disability Nascimento type

A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hi

A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24.

Signs and symptoms

• Short foot
• Dry skin
• Broad hallux
• Hypointensity of cerebral white matter on MRI
• Downturned corners of mouth
• Pes planus
• Intellectual disability
• Prominent supraorbital ridges
• Broad neck
• Thin vermilion border

Also known as: X-linked intellectual disability-nail dystrophy-seizures syndrome; mental retardation, X-linked syndromic, Nascimento-type