Cardiospondylocarpofacial Syndrome
| Disease Aliases (11) | Cscf Cardiospondylocarpofacial syndrome Congenital heart disease, deafness, and skeletal malformations Forney robinson pascoe syndrome Forney syndrome Forney-robinson-pascoe syndrome Mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones Mitral regurgitation - deafness - skeletal anomalies Mitral regurgitation-deafness-skeletal anomalies syndrome Mitral regurgitation-hearing loss-skeletal anomalies syndrome Cardiospondylocarpofacial syndrome; cscf |
Associated Genes (1) NCBI-RefSeq: MAP3K7 (Mitogen-activated protein kinase kinase kinase 7) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of Cardiospondylocarpofacial syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |