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Paganini-Miozzo syndrome

Synonyms
MENTAL RETARDATION, X-LINKED, SYNDROMIC, PAGANINI-MIOZZO TYPE

Summary

Paganini-Miozzo syndrome (MRXSPM) is a neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features (summary by Paganini et al., 2019) [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRXSPM, HS6ST2
    Summary: heparan sulfate 6-O-sulfotransferase 2

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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