Clinical features
Autosomal recessive mutations in the TMEM231 gene cause ciliopathy. If the mutations are homozygous, the clinical presentation is characteristic of Meckel-Gruber syndrome, a severe ciliopathy characterized by occipital encephalocele, polydactyly, polycystic kidney disease, and early death. On the other hand, patients with compound heterozygous mutations usually present with Joubert syndrome, which is characterized by oculomotor apraxia, breathing abnormalities, molar tooth sign on brain MRI, and developmental delay.
Prevalence
The prevalence of TMEM231-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
TMEM231-related disorders are inherited in an autosomal recessive manner.