Orofaciodigital Syndrome I(OFD syndrome 1) Explore Disorder's Alias
An X-linked recessive mode(s) within the Neurodevelopmental disorders category
Candidate Gene Information
An X-linked recessive mode(s) within the Neurodevelopmental 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 | OFD1/8481 | OFD1 centriole and centriolar satellite protein | Xp22.2 | ChrX, NC_000023.11 (13714505..13773738) |
59234 nt | 27 | 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 |