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

What is RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity?

RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.

If you think you may have RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity

Bilateral sensorineural hearing impairmentBilateral tonic-clonic seizureBruising susceptibilityClonic seizureConductive hearing impairmentConstipationDeeply set eyeFailure to thriveFebrile convulsionFeverFocal clonic seizureFocal impaired awareness seizure

When to seek medical care

Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.