Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 07-01-2025

Symbol	OFD2
Location	4q33
Name	orofaciodigital syndrome 2
Other name(s)	Mohr syndrome
Corresponding gene	NEK1
Main clinical features	cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly; also mesomelic shortening of the limbs
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)