Rare diseases · Sign or symptom

Periventricular heterotopia

HP:0007165

What it means

A form of gray matter heterotopia were the mislocalized gray matter is typically located periventricularly, also sometimes called subependymal heterotopia. Periventricular means beside the ventricles. This is by far the most common location for heterotopia. Subependymal heterotopia present in a wide array of variations. There can be a small single node or a large number of nodes, can exist on either or both sides of the brain at any point along the higher ventricle margins, can be small or large, single or multiple, and can form a small node or a large wavy or curved mass.

Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome.

Rare diseases that can present with this11

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Periventricular gray matter heterotopia · Periventricular grey matter heterotopia · Periventricular neuronal heterotopia · Subependymal gray matter heterotopia · Subependymal grey matter heterotopia · Subependymal neuronal heterotopia

Periventricular heterotopia

Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.

Start free with Eleplan

This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.