Split Hand-foot Malformation 4(SHFM4 syndrome)
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 | TP63/8626 | tumor protein p63 | 3q28 | Chr3, NC_000003.12 (189596746..189897276) |
300531 nt | 17 | 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