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Paganini-Miozzo syndrome
Summary
- Synonym
-
- 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.
- Super Class
- X-linked recessive disease syndromic X-linked intellectual disability
External Links
- Disease Ontology
- DOID:0111843
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002151 | Increased circulating lactate concentration |
| HP:0000272 | Malar flattening |
| HP:0003348 | Hyperalaninemia |
| HP:0000750 | Delayed speech and language development |
