RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
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
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
NEDSJL
exact
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
exact
RNU5B-1-related disorder
broad
neurodevelopmental disorder with seizures and joint laxity
exact