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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

MONDO:0026724

OMIM

301025

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
90161	HS6ST2	heparan sulfate 6-O-sulfotransferase 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
50786	Hs6st2	heparan sulfate 6-O-sulfotransferase 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
302489	Hs6st2	heparan sulfate 6-O-sulfotransferase 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
42380	Hs6st	Heparan sulfate 6-O-sulfotransferase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
378450	hs6st2	heparan sulfate 6-O-sulfotransferase 2	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source	Organism
100496603	hs6st2	heparan sulfate 6-O-sulfotransferase 2	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)

The Human Phenotype Ontology

Displaying entries **11 - 20** of 24 in total

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HPO ID	HPO Term
HP:0000750	Delayed speech and language development
HP:0001263	Global developmental delay
HP:0001419	X-linked recessive inheritance
HP:0002003	Large forehead
HP:0002151	Increased circulating lactate concentration
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
HP:0002465	Poor speech
HP:0002714	Downturned corners of mouth
HP:0003348	Hyperalaninemia
HP:0006956	Lateral ventricle dilatation