Rare diseases · Sign or symptom
Abnormal basal ganglia MRI signal intensity
HP:0012751
What it means
A deviation from normal signal on magnetic resonance imaging (MRI) of the basal ganglia.
Rare diseases that can present with this17
Very common80–99%
4Common30–79%
9- African trypanosomiasis
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
- Ethylmalonic encephalopathy
- Leigh syndrome
- MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
- NARP syndrome
- Pallister-Hall syndrome
- Progressive encephalopathy with leukodystrophy due to DECR deficiency
- Proximal myopathy with extrapyramidal signs
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
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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.