MRT44 is a rare form of intellectual disability, caused by mutations in the METTL23 gene. This condition has so far been reported in only three families worldwide. In one of the families, the condition was characterized by the presence of intellectual disability and dysmorphic features. The two other families did not report the presence of any dysmorphic features.
See United Arab Emirates > Reiff et al., 2014
Reiff et al. (2014) described a large consanguineous family of Yemeni origin affected by intellectual disability and dysmorphic features. The family consisted of two branches; one branch residing in UAE with three affected members and the other branch is in Saudi Arabia with four affected members. Pedigree analysis confirmed an autosomal recessive mode of transmission of the condition. The patients in the UAE branch of the family were studied in detail phenotypically. Two of the patients had moderate cognitive impairment, while in one patient the cognitive deficit was severe with autistic symptoms. The dysmorphic features included a flat occiput, large eyes, depressed nasal bridge, short, upturned nose, long philtrum, thin lips, and incomplete syndactyly. In addition, one of the patients had a cleft uvula, submucosal cleft palate, and flat epiphyses. A mutation in the METTL23 gene was found in all the affected patients in this family.