RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity

MONDO:1060179

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: RNU5B-1-related disorder, NEDSJL, RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, neurodevelopmental disorder with seizures and joint laxity

0 clinical trials for this condition and its sub-types, 0 tagged with RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity itself.

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↑ Mendelian neurodevelopmental disorder (208)

Including sub-types (0) Tagged with RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity (0)

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