Paganini-Miozzo syndrome (DOID:0111843)
Alliance: disease page
Synonyms: MRXSPM
Alt IDs: OMIM:301025
Definition: 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.