OROFACIAL CLEFT 13

General Information (adopted from Orphanet):

Synonyms, Signs: OFC13
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613857
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(OMIM) Cleft lip and/or palate 4 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM Ghassibe-Sabbagh et al. (2011) screened the FAF1 gene in a cohort of 228 individuals with clefts, including 14 patients with van der Woude syndrome (119300) in whom mutation in the IRF6 gene (607199) had been excluded, 34 patients ...