Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome(LEUDEN SYNDROME)
An Autosomal dominant mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Neurodevelopmental 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 | EIF2AK2/5610 | eukaryotic translation initiation factor 2 alpha kinase 2 | 2p22.2 | Chr2, NC_000002.12 (37099210..37156980, complement) |
57771 nt | 17 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities