Rare diseases · Sign or symptom
Abnormal brainstem morphology
Abnormal shape of brainstem
HP:0002363
What it means
An anomaly of the brainstem.
Rare diseases that can present with this24
Very common80–99%
4Common30–79%
11- Alobar holoprosencephaly
- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- Congenital muscular dystrophy with cerebellar involvement
- Familial acute necrotizing encephalopathy
- Familial cerebral saccular aneurysm
- Lennox-Gastaut syndrome
- Midline interhemispheric variant of holoprosencephaly
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy
- Oculocerebral hypopigmentation syndrome, Preus type
- Semilobar holoprosencephaly
- X-linked cerebral-cerebellar-coloboma syndrome
Sometimes5–29%
8The 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 brainstem morphology · Abnormality of the brainstem
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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.