Version: 8.0.0
Date: Tue Jan 28 2025
orofaciodigital syndrome II
DOID:0060959
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • Mohr syndrome
  • Oral-facial-digital syndrome type 2
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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