Microcephaly 14, Primary, Autosomal Recessive(MCPH14)
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 | SASS6/163786 | SAS-6 centriolar assembly protein | 1p21.2 | Chr1, NC_000001.11 (100083570..100132930, complement) |
49361 nt | 19 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information Highlighted rows indicate variants are reported from India | ||||||||
| Disorder Cross-References: Orphanet OMIM GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities