multiple congenital anomalies-hypotonia-seizures syndrome 2

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.

What is multiple congenital anomalies-hypotonia-seizures syndrome 2?

multiple congenital anomalies-hypotonia-seizures syndrome 2 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 multiple congenital anomalies-hypotonia-seizures syndrome 2, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with multiple congenital anomalies-hypotonia-seizures syndrome 2

Abdominal distentionAbnormality of the philtrumBilateral tonic-clonic seizureEdemaFebrile convulsionFocal clonic seizureFocal seizure with eyelid myocloniaGeneralized myoclonic seizureGeneralized tonic seizureGeneralized-onset seizureHearing impairmentModerately reduced visual acuity

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.