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autosomal recessive limb-girdle muscular dystrophy type 2K

Summary

Synonym

LGMD2K
MDDGC1
limb-girdle muscular dystrophy-intellectual disability syndrome
muscular dystrophy limb-girdle type 2K
muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).

Super Class

autosomal recessive limb-girdle muscular dystrophy

External Links

Disease Ontology

DOID:0110297

Mondo Disease Ontology

ORDO

86812

OMIM

609308

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
99011	Pomt1	protein-O-mannosyltransferase 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
84430	Pomt1	protein-O-mannosyltransferase 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
39297	rt	rotated abdomen	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
569769	pomt1	protein-O-mannosyltransferase 1	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source	Organism
448433	pomt1	protein-O-mannosyltransferase 1	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)
108699937	pomt1.S	protein-O-mannosyltransferase 1 S homeolog	Alliance of Genome Resources	Xenopus laevis (African clawed frog)

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
853608	PMT4	dolichyl-phosphate-mannose-protein mannosyltransferase	Alliance of Genome Resources

The Human Phenotype Ontology

Displaying entries **31 - 37** of 37 in total

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HPO ID	HPO Term
HP:0012735	Cough
HP:0000007	Autosomal recessive inheritance
HP:0001270	Motor delay
HP:0001371	Flexion contracture
HP:0001387	Joint stiffness
HP:0003677	Slowly progressive
HP:0011463	Childhood onset