Orofacial Digital Syndrome 2

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive inherited disease associated with compound heterozygous mutations in the NEK1 gene and characterized by absence of medial incisors, median cleft lip, poly lobed tongue and polydactyly of hands and feet.

**Synonyms:** - Mohr Syndrome - OFD II - Orofacial-digital syndrome II - OFDS Type II - Orofacial Digital Syndrome Type 2 - Orofacialdigital Syndrome 2