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 )

Relationships
is a type of: autosomal recessive disease orofaciodigital syndrome