ZFIN Human Disease: muscular dystrophy-dystroglycanopathy type B5

OBO ID: DOID:0110635

Term Name:	muscular dystrophy-dystroglycanopathy type B5		Search Ontology:
Synonyms:	congenital muscular dystrophy 1C FKRP-related congenital muscular dystrophy MDC1C MDDGB5 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5 muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Definition:	A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. (2)
References:	ICD10CM:G71.2 OMIM:606612 ORDO:52428
Ontology:	Human Disease ( DOID:0110635 )

Relationships

is a type of:	autosomal recessive disease muscular dystrophy-dystroglycanopathy type B autosomal recessive disease muscular dystrophy-dystroglycanopathy type B Show first 5 Terms

OTHER muscular dystrophy-dystroglycanopathy type B5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FKRP	fkrp	Muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5	606612

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None