Wolcott-Rallison Dysplasia(Multiple epiphyseal dysplasia with early-onset diabetes mellitus) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Multisystemic 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 | EIF2AK3/9451 | eukaryotic translation initiation factor 2 alpha kinase 3 | 2p11.2 | Chr2, NC_000002.12 (88556741..88628145, complement) |
71405 nt | 21 | 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