Microcephaly 17, Primary, Autosomal Recessive(MCPH17)
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 | CIT/11113 | citron rho-interacting serine/threonine kinase | 12q24.23 | Chr12, NC_000012.12 (119685791..119877320, complement) |
191530 nt | 51 | 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