Fetal Akinesia Deformation Sequence 3(DOK7-Related Fetal Akinesia Deformation Sequence)
An Autosomal recessive mode(s) within the Respiratory disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Respiratory 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 | DOK7/285489 | docking protein 7 | 4p16.3 | Chr4, NC_000004.12 (3463306..3501482) |
38177 nt | 13 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | DOCK7/85440 | dedicator of cytokinesis 7 | 1p31.3 | Chr1, NC_000001.11 (62454726..62688386, complement) |
233661 nt | 53 | 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