Rafiq syndrome

Rafiq syndrome is a condition where there is intellectual disability caused by changes in a gene called MAN1B1. This condition is inherited in an autosomal recessive pattern, which means that a child needs to receive a mutated gene from each parent to be affected. The term 'non-syndromic' is used because the main issue is intellectual disability rather than a collection of various physical or medical features. The disease is defined by the mutation in the MAN1B1 gene. While people with this condition experience challenges with intellectual development, the detailed full spectrum of symptoms is not extensively described in the available sources.

Information about symptoms is currently limited for this condition.

The cause of Rafiq syndrome is linked to mutations in the MAN1B1 gene. Since it is inherited in an autosomal recessive manner, both parents carry one copy of the mutated gene, and the condition occurs when a child inherits both mutated copies. This genetic change leads to the intellectual disability seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.