orofaciodigital syndrome II

Term ID

DOID:0060959

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. https://pubmed.ncbi.nlm.nih.gov/27530628/

References

• GARD:3701
• MIM:252100
• ORDO:2751

Ontology

Human Disease   ( DOID:0060959 )