Paganini-Miozzo syndrome

Term ID

DOID:0111843

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. https://www.ncbi.nlm.nih.gov/pubmed/30471091

References

• MIM:301025

Ontology

Human Disease   ( DOID:0111843 )