Metaphyseal Chondrodysplasia, McKusick Type(Cartilage hair hypoplasia) Explore Disorder's Alias
An Autosomal recessive mode(s) within the Immune disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Immune 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 | RMRP/6023 | RNA component of mitochondrial RNA processing endoribonuclease | 9p13.3 | Chr9, NC_000009.12 (35657751..35658018, complement) |
268 nt | 1 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| Variant Information | ||||||||
| Disorder Cross-References: Orphanet OMIM GARD GTR MedGen MalaCards EMBL-EBI OLS Monarch Initiative NORD | ||||||||
Patient care services
Clinical Symptoms & Disabilities
Prevalence
| Under development |