Main clinical features
Jamuar syndrome is characterized by developmental delay, seizures and moderate to severe intellectual disability.

Jamuar syndrome is a rare condition with less than 50 cases reported so far. However, based on reference genomic data from unaffected individuals, it is estimated that the prevalence of Jamuar syndrome may range from 1 in 14 million to 1 in 2 million.

Jamuar syndrome is caused by genetic variations in both copies of the UGDH gene and is inherited in an autosomal recessive manner. This means that the parents carry one genetic variation each and the recurrence risk for future pregnancies is 25%. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation is higher.