MDCL

http://purl.bioontology.org/ontology/OMIM/613205

MDCL

C2750785

1q21.2

HGPS

EMD2

LMNA

LMN1

CMD1A

FPLD2

http://purl.bioontology.org/ontology/OMIM/MTHU039385

http://purl.bioontology.org/ontology/OMIM/MTHU000660

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

http://purl.bioontology.org/ontology/OMIM/MTHU039388

http://purl.bioontology.org/ontology/OMIM/MTHU024742

http://purl.bioontology.org/ontology/OMIM/MTHU039380

http://purl.bioontology.org/ontology/OMIM/MTHU007130

http://purl.bioontology.org/ontology/OMIM/MTHU039383

http://purl.bioontology.org/ontology/OMIM/MTHU010755

http://purl.bioontology.org/ontology/OMIM/MTHU039387

http://purl.bioontology.org/ontology/OMIM/MTHU039384

http://purl.bioontology.org/ontology/OMIM/MTHU006095

http://purl.bioontology.org/ontology/OMIM/MTHU000988

http://purl.bioontology.org/ontology/OMIM/MTHU038242

http://purl.bioontology.org/ontology/OMIM/MTHU039386

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

http://purl.bioontology.org/ontology/OMIM/MTHU039381

http://purl.bioontology.org/ontology/OMIM/MTHU039382

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU022536

http://purl.bioontology.org/ontology/OMIM/MTHU031268

Phenotype description, molecular basis known.

613205

3

pound

MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED

Patients who acquire ability to walk may lose it [MISCELLANEOUS]

Caused by mutation in the lamin A/C gene (LMNA, 150330.0047) [MOLECULAR BASIS]

Variable severity [MISCELLANEOUS]

Prenatal onset or onset in infancy [MISCELLANEOUS]

Progressive disorder [MISCELLANEOUS]

T047