Developmental And Epileptic Encephalopathy, 84(Jamuar syndrome) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An Autosomal recessive 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 | UGDH/7358 | UDP-glucose 6-dehydrogenase | 4p14 | Chr4, NC_000004.12 (39498755..39527439, complement) |
28685 nt | 12 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: GARD GTR MalaCards NORD | ||||||||
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Clinical Symptoms & Disabilities