SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY

SPSMA

http://purl.bioontology.org/ontology/OMIM/181405

SPSMA

AMYOTROPHY, NEUROGENIC SCAPULOPERONEAL, NEW ENGLAND TYPE

C0751335

12q24.1

SSQTL1

SMAL

BCYM3

HMSN2C

TRPV4

SPSMA

VROAC

CMT2C

http://purl.bioontology.org/ontology/OMIM/MTHU003763

http://purl.bioontology.org/ontology/OMIM/MTHU041550

http://purl.bioontology.org/ontology/OMIM/MTHU001753

http://purl.bioontology.org/ontology/OMIM/MTHU036957

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

http://purl.bioontology.org/ontology/OMIM/MTHU067391

http://purl.bioontology.org/ontology/OMIM/MTHU003664

http://purl.bioontology.org/ontology/OMIM/MTHU005970

http://purl.bioontology.org/ontology/OMIM/MTHU041529

http://purl.bioontology.org/ontology/OMIM/MTHU000328

http://purl.bioontology.org/ontology/OMIM/MTHU041545

http://purl.bioontology.org/ontology/OMIM/MTHU002207

http://purl.bioontology.org/ontology/OMIM/MTHU041539

http://purl.bioontology.org/ontology/OMIM/MTHU004798

http://purl.bioontology.org/ontology/OMIM/MTHU041531

http://purl.bioontology.org/ontology/OMIM/MTHU041537

http://purl.bioontology.org/ontology/OMIM/MTHU041535

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU041549

http://purl.bioontology.org/ontology/OMIM/MTHU041547

http://purl.bioontology.org/ontology/OMIM/MTHU041543

http://purl.bioontology.org/ontology/OMIM/MTHU041541

http://purl.bioontology.org/ontology/OMIM/MTHU020187

http://purl.bioontology.org/ontology/OMIM/MTHU036626

http://purl.bioontology.org/ontology/OMIM/MTHU067392

http://purl.bioontology.org/ontology/OMIM/MTHU000560

http://purl.bioontology.org/ontology/OMIM/MTHU067390

http://purl.bioontology.org/ontology/OMIM/MTHU004124

http://purl.bioontology.org/ontology/OMIM/MTHU000724

http://purl.bioontology.org/ontology/OMIM/MTHU003863

http://purl.bioontology.org/ontology/OMIM/MTHU033381

http://purl.bioontology.org/ontology/OMIM/MTHU011174

http://purl.bioontology.org/ontology/OMIM/MTHU041538

http://purl.bioontology.org/ontology/OMIM/MTHU002917

http://purl.bioontology.org/ontology/OMIM/MTHU041536

http://purl.bioontology.org/ontology/OMIM/MTHU000681

http://purl.bioontology.org/ontology/OMIM/MTHU000329

http://purl.bioontology.org/ontology/OMIM/MTHU041542

http://purl.bioontology.org/ontology/OMIM/MTHU041548

http://purl.bioontology.org/ontology/OMIM/MTHU041540

http://purl.bioontology.org/ontology/OMIM/MTHU041544

http://purl.bioontology.org/ontology/OMIM/MTHU041534

http://purl.bioontology.org/ontology/OMIM/MTHU041532

Phenotype description, molecular basis known.

181405

3

pound

SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY

Incomplete penetrance [MISCELLANEOUS]

Onset at birth or in infancy [MISCELLANEOUS]

Nonprogressive or slowly progressive [MISCELLANEOUS]

Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0008) [MOLECULAR BASIS]

T047