Visualize Submit Comment

Metadata
ID	DOID:0111843
Name	Paganini-Miozzo syndrome
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. https://www.ncbi.nlm.nih.gov/pubmed/30471091
Xrefs	MIM:301025
Synonyms	MRXSPM [EXACT]
Parent Relationships	is_a X-linked recessive disease is_a syndromic X-linked intellectual disability
Subclass Logical Relationships	has material basis in some X-linked recessive inheritance