Pfeiffer Syndrome Explore Disorder's Alias
An Autosomal dominant mode(s) within the Bone disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Bone 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 | FGFR2/2263 | fibroblast growth factor receptor 2 | 10q26.13 | Chr10, NC_000010.11 (121478330..121598458, complement) |
120129 nt | 26 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
| 2 | FGFR1/2260 | fibroblast growth factor receptor 1 | 8p11.23 | Chr8, NC_000008.11 (38411143..38468635, complement) |
57493 nt | 24 | 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 |