Familial Dysautonomia(Riley-day syndrome) 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 | ELP1/8518 | elongator acetyltransferase complex subunit 1 | 9q31.3 | Chr9, NC_000009.12 (108867517..108934124, complement) |
66608 nt | 37 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
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Clinical Symptoms & Disabilities