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
Displaying 1 entry
Gene ID Gene Symbol Description Source
90161 HS6ST2 heparan sulfate 6-O-sulfotransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
50786 Hs6st2 heparan sulfate 6-O-sulfotransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
302489 Hs6st2 heparan sulfate 6-O-sulfotransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
42380 Hs6st Heparan sulfate 6-O-sulfotransferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
378450 hs6st2 heparan sulfate 6-O-sulfotransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100496603 hs6st2 heparan sulfate 6-O-sulfotransferase 2 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 24 in total
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
Displaying 1 entry
Gene ID Gene Symbol Description
90161 HS6ST2 heparan sulfate 6-O-sulfotransferase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024