Rare diseases · Sign or symptom
Cerebral atrophy
Degeneration of cerebrum
HP:0002059
What it means
Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Atrophy may be progressive over time.
Rare diseases that can present with this83
Very common80–99%
4Common30–79%
35- 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
- Autosomal recessive spastic paraplegia type 46
- Beta-propeller protein-associated neurodegeneration
- CACH syndrome
- Cockayne syndrome
- Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
- Dystonia-aphonia syndrome
- Dystonia-parkinsonism-hypermanganesemia syndrome
- Emanuel syndrome
- Encephalocraniocutaneous lipomatosis
- Epilepsy of infancy with migrating focal seizures
- FADD-related immunodeficiency
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Fumaric aciduria
- Gamma-aminobutyric acid transaminase deficiency
- Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
- HSD10 disease, infantile type
- Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
- Idiopathic camptocormia
- Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
- Infantile osteopetrosis with neuroaxonal dysplasia
- Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
- Keratosis follicularis-dwarfism-cerebral atrophy syndrome
- Leukocyte adhesion deficiency type II
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- NAD(P)HX dehydratase deficiency
- Northern epilepsy
- Ogden syndrome
- PRUNE1-related neurological syndrome
- Pyruvate dehydrogenase E1-alpha deficiency
- Spinocerebellar ataxia type 12
- Spinocerebellar ataxia type 7
- Sporadic Creutzfeldt-Jakob disease
- WARS2-related combined oxidative phosphorylation defect
- X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
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 2 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: Supratentorial atrophy
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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.