Oto-Palato-Digital Syndrome(Otopalatodigital syndrome type 1) Explore Disorder's Alias
An X-linked recessive mode(s) within the Bone disorders category
Candidate Gene Information
An X-linked recessive 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 | FLNA/2316 | filamin A | Xq28 | ChrX, NC_000023.11 (154348531..154374634, complement) |
26104 nt | 48 | More... | OMIM gene gnomAD browser EnsEMBL GeneCards ClinGen gene |
Variant Information | ||||||||
Disorder Cross-References: GARD GTR MalaCards NORD |
Patient care services
Clinical Symptoms & Disabilities
Prevalence
Under development |