| Disease Aliases (64) | Cmd, fukuyama Cod md syndrome Cod-md syndrome Cod-md syndromes Cerebromuscular dystrophy, fukuyama type Cerebroocular dysplasia muscular dystrophy syndrome Cerebroocular dysplasia-muscular dystrophy syndrome Cerebroocular dysgenesis Chemke syndrome Congenital muscular dystrophy dystroglycanopathy with brain and eye anomalies, type a1 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type a1 Disease, pomt1-related muscle-eye-brain Dystrophy, fukuyama muscular Fktn-related walker-warburg syndrome Fktn-related walker-warburg syndromes Fukuyama cmd Fukuyama congenital muscular dystrophy Fukuyama muscular dystrophy Fukuyama syndrome Fukuyama type congenital muscular dystrophy Hard syndrome Hard syndromes Hard +/- e syndrome Hydrocephalus - agyria - retinal dysplasia Hydrocephalus, agyria, and retinal dysplasia Hydrocephalus, agyria and retinal dysplasia Hydrocephalus-agyria-retinal dysplasia syndrome Lgmd2k Mddga1 Meb (muscle-eye-brain) syndrome Muscle eye brain disease Muscle eye brain disease, pomt1 related Muscle-eye-brain disease Muscle-eye-brain disease, pomt1-related Muscle-eye-brain diseases Muscle-eye-brain diseases, pomt1-related Muscular dystrophy due to defective glycosylation of dystroglycan 4a Muscular dystrophy, congenital, fukuyama type Muscular dystrophy, fukuyama Muscular dystrophy, limb-girdle, autosomal recessive, with mental retardation Muscular dystrophy, limb-girdle, type 2k Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 1 Pomt1-related muscle-eye-brain disease Pomt1-related muscle-eye-brain diseases Pagon syndrome Pagon syndromes Syndrome, cod-md Syndrome, chemke Syndrome, fktn-related walker-warburg Syndrome, fukuyama Syndrome, hard Syndrome, pagon Syndrome, walker-warburg Syndrome, warburg Wws Walker warburg syndrome Walker warburg syndrome, fktn related Walker-warburg syndrome, fktn-related Walker-warburg muscular dystrophy Walker-warburg syndrome Warburg syndrome Alpha dystroglycanopathies Alpha-dystroglycanopathies |
Associated Genes (14) NCBI-RefSeq: FKRP (Fukutin related protein) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: DAG1 (Dystroglycan 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: POMK (Protein O-mannose kinase) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: POMT1 (Protein O-mannosyltransferase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: B3GALNT2 (Beta-1,3-N-acetylgalactosaminyltransferase 2) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: RXYLT1 (Ribitol xylosyltransferase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: B4GAT1 (Beta-1,4-glucuronyltransferase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: POMGNT1 (Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: FKTN (Fukutin) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: CRPPA (CDP-L-ribitol pyrophosphorylase A) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: POMGNT2 (Protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: COL4A1 (Collagen type IV alpha 1 chain) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: POMT2 (Protein O-mannosyltransferase 2) External Links: gnomAD browser Ensembl GeneCards
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| Cross-references of Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |