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orofaciodigital syndrome II
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease orofaciodigital syndrome
External Links
- Disease Ontology
- DOID:0060959
- Mondo Disease Ontology
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96PY6 | Serine/threonine-protein kinase Nek1 |
