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 )

Relationships
is a type of: syndromic X-linked intellectual disability X-linked recessive disease