Term Name: | orofaciodigital syndrome II |
---|---|
Synonyms: | Mohr syndrome, Oral-facial-digital syndrome type 2 |
Definition: | An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. |
Ontology: | Human Disease [DOID:0060959] ( DOID:0060959 ) |