Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency is a medical condition that may be associated with various symptoms and signs.

What is Rubinstein-Taybi syndrome due to EP300 haploinsufficiency?

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 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 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Abnormal fear-induced behaviorConductive hearing impairmentConstipationFailure to thriveGastroesophageal refluxSeizureSensorineural hearing impairment

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.