Spinal Muscular Atrophy 1(Werdnig-Hoffmann disease) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Neuromuscular disorders category
Reported Pathogenic variants
| S.No. | Name/GeneID | Description | Cytogentic Band | Gene Location on genomic DNA | Gene Length | Exons | Details | Gene Cross-References |
| 1 | SMN1/6606 | survival of motor neuron 1, telomeric | 5q13.2 | Chr5, NC_000005.10 (70924941..70966375) |
41435 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | SMN2/6607 | survival of motor neuron 2, centromeric | 5q13.2 | Chr5, NC_000005.10 (70049523..70090528) |
41006 nt | 11 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |