Rare diseases · Sign or symptom

Dysgenesis of the thalamus

HP:0025099

What it means

Structural abnormality of the thalamus related to defective development.

Note that the term thalamic dysgenesis is generally used to refer to a morphological abnormality of the thalamus that is of presumed developmental (rather than acquired) origin.

Rare diseases that can present with this1

Common30–79%

1

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: Thalamic dysgenesis

Dysgenesis of the thalamus

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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.