Naegeli-Franceschetti-Jadassohn Syndrome(Reticular skin changes, dental anomalies, decreased function of sweat glands, strabismus, and optic atrophy) Explore Disorder's Alias
An Autosomal dominant mode(s) within the Skin disorders category
Candidate Gene Information
An Autosomal dominant mode(s) within the Skin 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 | KRT14/3861 | keratin 14 | 17q21.2 | Chr17, NC_000017.11 (41582279..41586895, complement) |
4617 nt | 8 | 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 |