Term Name: | Paganini-Miozzo syndrome |
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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 ) |