Combined Oxidative Phosphorylation Deficiency 53(Neurodevelopmental disorder with hypotonia, microcephaly, and seizures (NEDHYMS))
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 | C2orf69/205327 | chromosome 2 open reading frame 69 | 2q33.1 | Chr2, NC_000002.12 (199911293..199928273) |
16981 nt | 2 | 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
Prevalence
| Under development |