RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity

Definition

A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characterized by global developmental delay, hypotonia, macrocephaly, failure to thrive, abnormality of the eye, seizures, and joint laxity

Also known as NEDSJL, neurodevelopmental disorder with seizures and joint laxity, RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity — per MONDO

Also identified as

• OMIM 621302 per MONDO