PPFIA3-related neurodevelopmental disorder

A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental delay and intellectual disability. Most patients present variable additional features, including dysmorphisms, microcephaly or macrocephaly, hypotonia, autism spectrum disorder or autistic features, abnormal electroencephalogram, and epilepsy.

What is PPFIA3-related neurodevelopmental disorder?

PPFIA3-related neurodevelopmental disorder 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 PPFIA3-related neurodevelopmental disorder, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with PPFIA3-related neurodevelopmental disorder

AnxietyChronic constipationConstipationDepressionDysphagiaGastroesophageal refluxGeneralized non-motor (absence) seizureHematuriaSeizureTremorUrinary incontinence

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.