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congenital muscular dystrophy-dystroglycanopathy type A6

Summary

Synonym

MDDGA6
Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3.

Super Class

congenital muscular dystrophy-dystroglycanopathy type A

External Links

Disease Ontology: DOID:0111242

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
9215	LARGE1	LARGE xylosyl- and glucuronyltransferase 1	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
O95461	Xylosyl- and glucuronyltransferase LARGE1	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **31 - 40** of 80 in total

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HPO ID	HPO Term
HP:0000369	Low-set ears
HP:0000411	Protruding ear
HP:0000482	Microcornea
HP:0000528	Anophthalmia
HP:0000541	Retinal detachment
HP:0000556	Retinal dystrophy
HP:0000568	Microphthalmia
HP:0000587	Abnormal optic nerve morphology
HP:0000612	Iris coloboma
HP:0001249	Intellectual disability

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Gene ID	Gene Symbol	Description
10585	POMT1	protein O-mannosyltransferase 1
148789	B3GALNT2	beta-1,3-N-acetylgalactosaminyltransferase 2
2218	FKTN	fukutin
29925	GMPPB	GDP-mannose pyrophosphorylase B
29954	POMT2	protein O-mannosyltransferase 2
55624	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
729920	CRPPA	CDP-L-ribitol pyrophosphorylase A
79147	FKRP	fukutin related protein
9215	LARGE1	LARGE xylosyl- and glucuronyltransferase 1
10329	RXYLT1	ribitol xylosyltransferase 1