Rare diseases · Sign or symptom
Abnormal brainstem MRI signal intensity
HP:0012747
What it means
A deviation from normal signal on magnetic resonance imaging (MRI) of the brainstem.
Rare diseases that can present with this12
Common30–79%
6- Acute disseminated encephalomyelitis
- Familial acute necrotizing encephalopathy
- Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- Laminin subunit alpha 2-related congenital muscular dystrophy
- Leigh syndrome
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Sometimes5–29%
4The 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, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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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.