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congenital muscular dystrophy-dystroglycanopathy type A13

Summary

Synonym

MDDGA13
Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2.

Super Class

congenital muscular dystrophy-dystroglycanopathy type A

External Links

Disease Ontology: DOID:0111238

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
11041	B4GAT1	beta-1,4-glucuronyltransferase 1	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
O43505	Beta-1,4-glucuronyltransferase 1	Alliance of Genome Resources

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0000028	Cryptorchidism
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000358	Posteriorly rotated ears
HP:0000369	Low-set ears
HP:0000411	Protruding ear

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Gene ID	Gene Symbol	Description
10329	RXYLT1	ribitol xylosyltransferase 1
10585	POMT1	protein O-mannosyltransferase 1
11041	B4GAT1	beta-1,4-glucuronyltransferase 1
148789	B3GALNT2	beta-1,3-N-acetylgalactosaminyltransferase 2
1605	DAG1	dystroglycan 1
2218	FKTN	fukutin
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