Rare diseases · Sign or symptom
Abnormal basal ganglia morphology
HP:0002134
What it means
Abnormality of the basal ganglia.
The basal ganglia are a group of nuclei (striatum, pallidum substantia nigra, and the subthalamic nucleus) at the base of the forebrain that are connected to the cerebral cortex, the thalamus, and other areas. The basal ganglia subserve motor functions that are distinct from those of the pyramidal (corticospinal) tract, for which reason neurologic abnormalities caused by lesions to the basal ganglia are often referred to as extrapyramidal.
Rare diseases that can present with this25
Very common80–99%
5Common30–79%
3Sometimes5–29%
14- 3-methylglutaconic aciduria type 1
- Amoebiasis due to free-living amoebae
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Combined oxidative phosphorylation defect type 13
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- HSD10 disease, infantile type
- Huntington disease-like 1
- Joubert syndrome with Jeune asphyxiating thoracic dystrophy
and 6 more in this range
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: Abnormality of the basal ganglia · Anomaly of the basal ganglia · Basal ganglia disease
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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.