Paganini-Miozzo syndrome

A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2

A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2.

Signs and symptoms

• Large forehead
• Poor speech
• Narrow forehead
• Urinary incontinence
• Microtia
• Downturned corners of mouth
• Posteriorly rotated ears
• Hyperalaninemia
• Downslanted palpebral fissures
• Lateral ventricle dilatation

Also known as: MRXSPM