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congenital muscular dystrophy-dystroglycanopathy type A5

Summary

Synonym

MDDGA5
Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32.

Super Class

congenital muscular dystrophy-dystroglycanopathy type A

External Links

Disease Ontology

DOID:0111241

Mondo Disease Ontology

MONDO:0013157

OMIM

613153

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
79147	FKRP	fukutin related protein	DisGeNET Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
243853	Fkrp	fukutin related protein	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
308390	Fkrp	fukutin related protein	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
37375	CG15651	uncharacterized protein	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
571426	fkrp	fukutin related protein	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source	Organism
100145309	fkrp	fukutin related protein	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)
108698503	fkrp.L	fukutin related protein L homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
Q9H9S5	Ribitol 5-phosphate transferase FKRP	DisGeNET

The Human Phenotype Ontology

Displaying entries **21 - 30** of 85 in total

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HPO ID	HPO Term
HP:0007360	Aplasia/Hypoplasia of the cerebellum
HP:0100022	Abnormality of movement
HP:0100543	Cognitive impairment
HP:0000028	Cryptorchidism
HP:0000175	Cleft palate
HP:0000176	Submucous cleft hard palate
HP:0000193	Bifid uvula
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000358	Posteriorly rotated ears

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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