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MIRAGE
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
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96MM7 | Heparan-sulfate 6-O-sulfotransferase 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0000369 | Low-set ears |
| HP:0011968 | Feeding difficulties |
| HP:0000303 | Mandibular prognathia |
| HP:0006956 | Lateral ventricle dilatation |
| HP:0001263 | Global developmental delay |
| HP:0000233 | Thin vermilion border |
| HP:0002714 | Downturned corners of mouth |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0011003 | High myopia |
