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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:0000341 | Narrow forehead |
| HP:0002003 | Large forehead |
| HP:0000020 | Urinary incontinence |
| HP:0002465 | Poor speech |
| HP:0000490 | Deeply set eye |
| HP:0008551 | Microtia |
| HP:0000325 | Triangular face |
| HP:0001419 | X-linked recessive inheritance |
| HP:0011463 | Childhood onset |
| HP:0000358 | Posteriorly rotated ears |
