Focal Dermal Hypoplasia(Goltz syndrome) Explore Disorder's Alias
An X-linked recessive mode(s) within the Skin disorders category
Candidate Gene Information
An X-linked recessive 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 | PORCN/64840 | porcupine O-acyltransferase | Xp11.23 | ChrX, NC_000023.11 (48508992..48520814) |
11823 nt | 16 | 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 |