Term Name:	Paganini-Miozzo syndrome
Synonyms:	MRXSPM
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.
Ontology:	Human Disease [DOID:0111843]   ( DOID:0111843 )