Johanson-Blizzard Syndrome Explore Disorder's Alias
An Autosomal recessive mode(s) within the Developmental / Multisystemic disorders category
Candidate Gene Information
An Autosomal recessive mode(s) within the Developmental / Multisystemic 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 | UBR1/197131 | ubiquitin protein ligase E3 component n-recognin 1 | 15q15.2 | Chr15, NC_000015.10 (42942897..43106038, complement) |
163142 nt | 47 | 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 |