Rare diseases · Sign or symptom
Brain imaging abnormality
HP:0410263
What it means
An anomaly of metabolism or structure of the brain identified by imaging.
Rare diseases that can present with this55
Very common80–99%
8- CACH syndrome
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
- GM1 gangliosidosis
- Hao-Fountain syndrome due to 16p13.2 microdeletion
- Intellectual disability-epilepsy-extrapyramidal syndrome
- Isolated focal cortical dysplasia
- SIN3-related intellectual disability syndrome due to a point mutation
- Takenouchi-Kosaki syndrome
Common30–79%
36- 15q11.2microdeletion syndrome
- 17q11microdeletion syndrome
- Adrenomyeloneuropathy
- African trypanosomiasis
- ALG1-CDG
- Amoebiasis due to free-living amoebae
- Angiostrongyliasis
- Biotinidase deficiency
- Cerebral visual impairment
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- FOXP1 Syndrome
- Gerstmann-Straussler-Scheinker syndrome
- Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
- Intellectual disability syndrome due to a DYRK1A point mutation
- Kleefstra syndrome due to a point mutation
- Leigh syndrome
- Mucopolysaccharidosis type 3
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- New-onset refractory status epilepticus
- Pierpont syndrome
- PMP22-RAI1 contiguous gene duplication syndrome
- Prader-Willi syndrome
- Proximal 16p11.2 microdeletion syndrome
- Pyruvate dehydrogenase phosphatase deficiency
- RERE-related neurodevelopmental syndrome
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Reversible cerebral vasoconstriction syndrome
- Rubinstein-Taybi syndrome due to CREBBP mutations
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
- SATB2-associated syndrome due to a pathogenic variant
- Schaaf-Yang syndrome
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
- SIM1-related Prader-Willi-like syndrome
- Sotos syndrome
- Spondyloenchondrodysplasia
Sometimes5–29%
10- Acute intermittent porphyria
- ALG12-CDG
- Angelman syndrome due to imprinting defect in 15q11-q13
- DPAGT1-CDG
- Epilepsy with myoclonic-atonic seizures
- Growth delay-intellectual disability-hepatopathy syndrome
- Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
- Neurogenic arthrogryposis multiplex congenita
and 2 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, and Orphanet separately records 4 diseases 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
Also called: Abnormal brain imaging
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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.