OROFACIAL CLEFT 5

General Information (adopted from Orphanet):

Synonyms, Signs: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 5
OFC5
Number of Symptoms 3
OrphanetNr:
OMIM Id: 608874
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
(HPO:0000175) Cleft palate 349 / 7739
2
(HPO:0000204) Cleft upper lip 193 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM With both case-control- and nuclear family-based approaches, Lidral et al. (1998) screened candidate genes for clefting in both the CL/P CPO of the nonsyndromic type. Significant linkage disequilibrium was found between CL/P and both MSX1 and TGFB3 (190230) ...