| Metadata | |
|---|---|
| ID | DOID:0060959 |
| Name | orofaciodigital syndrome II |
| 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Mohr syndrome [EXACT] Oral-facial-digital syndrome type 2 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |