Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy(NEDMEBA)
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 | TRAPPC6B/122553 | trafficking protein particle complex subunit 6B | 14q21.1 | Chr14, NC_000014.9 (39147814..39170333, complement) |
22520 nt | 6 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | ZNF808/388558 | zinc finger protein 808 | 19q13.41 | Chr19, NC_000019.10 (52527668..52568753) |
41086 nt | 8 | 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