hyperphosphatasia with intellectual disability syndrome 3

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.

Also known as: PGAP2 hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia with intellectual disability syndrome type 3, hyperphosphatasia with mental retardation syndrome 3, hyperphosphatasia with mental retardation syndrome type 3, hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2, HPMRS3

Category: General

What is hyperphosphatasia with intellectual disability syndrome 3?

hyperphosphatasia with intellectual disability syndrome 3 is a recognized medical condition. This page explains what it is, symptoms that may accompany it, and the lab tests healthcare providers sometimes use to investigate it. It is educational information only and is not a diagnosis.

If you think you may have hyperphosphatasia with intellectual disability syndrome 3, speak with a qualified healthcare provider for evaluation and guidance.

Symptoms that may be associated with hyperphosphatasia with intellectual disability syndrome 3

Bilateral tonic-clonic seizureFebrile convulsionGeneralized non-motor (absence) seizureMuscle weaknessMyoclonic seizureSeizureSensorineural 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.