MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A

MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/607855

MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY

MDC1A

MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT

C1842898

C1263858

6q22-q23

MDC1A

LAMA2

LAMM

http://purl.bioontology.org/ontology/OMIM/MTHU042875

http://purl.bioontology.org/ontology/OMIM/MTHU000379

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU025304

http://purl.bioontology.org/ontology/OMIM/MTHU042085

http://purl.bioontology.org/ontology/OMIM/MTHU002703

http://purl.bioontology.org/ontology/OMIM/MTHU008498

http://purl.bioontology.org/ontology/OMIM/MTHU002707

http://purl.bioontology.org/ontology/OMIM/MTHU002701

http://purl.bioontology.org/ontology/OMIM/MTHU002705

http://purl.bioontology.org/ontology/OMIM/MTHU000680

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU033373

http://purl.bioontology.org/ontology/OMIM/MTHU042876

http://purl.bioontology.org/ontology/OMIM/MTHU034658

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU002706

http://purl.bioontology.org/ontology/OMIM/MTHU001721

http://purl.bioontology.org/ontology/OMIM/MTHU000197

Phenotype description, molecular basis known.

607855

3

pound

MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A

Partial laminin alpha-2 deficiency results in milder phenotype [MISCELLANEOUS]

Onset at birth or early infancy [MISCELLANEOUS]

Caused by mutation in the laminin alpha-2 chain gene (LAMA2, 156225.0001) [MOLECULAR BASIS]

Ambulation usually not achieved [MISCELLANEOUS]

T047