Kleefstra syndrome 1

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.

What is Kleefstra syndrome 1?

Kleefstra syndrome 1 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 Kleefstra syndrome 1, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with Kleefstra syndrome 1

AnxietyAtonic seizureBilateral tonic-clonic seizureBilateral tonic-clonic seizure with focal onsetBipolar affective disorderChronic constipationDepressionFebrile convulsionFocal-onset seizureGastroesophageal refluxGeneralized non-motor (absence) seizureGeneralized-onset 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.