GlyCosmos Portal

Submissions

congenital muscular dystrophy-dystroglycanopathy type A14

Summary

Synonym

MDDGA14
Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31.

Super Class

congenital muscular dystrophy-dystroglycanopathy type A

External Links

Disease Ontology: DOID:0111233

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
29925	GMPPB	GDP-mannose pyrophosphorylase B	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **31 - 40** of 45 in total

« First

‹ Prev

1

2

3

4

5

Next ›

Last »
HPO ID	HPO Term
HP:0012110	Hypoplasia of the pons
HP:0001558	Decreased fetal movement
HP:0003593	Infantile onset
HP:0001324	Muscle weakness
HP:0003560	Muscular dystrophy
HP:0011463	Childhood onset
HP:0002421	Poor head control
HP:0001321	Cerebellar hypoplasia
HP:0003551	Difficulty climbing stairs
HP:0003623	Neonatal onset

Displaying **all 9** entries
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