Distal Arthrogryposis Type 5D(ECEL1 distal arthrogryposis)
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 | ECEL1/9427 | endothelin converting enzyme like 1 | 2q37.1 | Chr2, NC_000002.12 (232479827..232487834, complement) |
8008 nt | 18 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities