Rare diseases · Sign or symptom
Abnormal midbrain morphology
Abnormal shape of midbrain
HP:0002418
What it means
An abnormality of the midbrain, which has as its parts the tectum, cerebral peduncle, midbrain tegmentum and cerebral aqueduct.
Rare diseases that can present with this8
Very common80–99%
2Sometimes5–29%
3The 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: Abnormality of midbrain morphology · Abnormality of the mesencephalon · Abnormality of the midbrain
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Start free with EleplanThis 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.