Paganini-Miozzo Syndrome (MRXSPM)

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Disease Ontology 12 DOID:0111843 OMIM 56 301025 OMIM Phenotypic Series 56 PS309510 MeSH 43 D038901

MedGen 41 C5193010 CN258821 SNOMED-CT via HPO 68 109504005 162294008 165232002 224958001 22810007 229721007 246800008 246923005 29164008 301348000 34187009 35045004 41497008 62415009 78164000 80093006 95515009 more EFO 17 EFO_0010261 UMLS 71 CN258821

Disease Ontology : ¹² 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 HS6ST2 on chromosome Xq26.2.

MalaCards based summary : Paganini-Miozzo Syndrome, is also known as mrxspm. An important gene associated with Paganini-Miozzo Syndrome is HS6ST2 (Heparan Sulfate 6-O-Sulfotransferase 2). Affiliated tissues include eye, and related phenotypes are global developmental delay and mandibular prognathia

OMIM : ⁵⁶ 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) (301025)

UniProtKB/Swiss-Prot : ⁷³ Paganini-Miozzo syndrome: An X-linked, syndromic, neurodevelopmental disorder characterized by intellectual disability, global developmental delay, severe myopia, and mild facial dysmorphism.

Clinical features from OMIM:

301025

Search Clinical Trials , NIH Clinical Center for Paganini-Miozzo Syndrome

Search GEO for disease gene expression data for Paganini-Miozzo Syndrome.