Rare diseases · Sign or symptom
Diffuse cerebral atrophy
HP:0002506
What it means
Diffuse unlocalised atrophy affecting the cerebrum.
Rare diseases that can present with this22
Common30–79%
9- Autosomal recessive cerebelloparenchymal disorder type 3
- CLN12 disease
- COG2-CDG
- Combined oxidative phosphorylation defect type 27
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
- GM1 gangliosidosis type 1
- Microphthalmia-brain atrophy syndrome
- PRKAR1B-related neurodegenerative dementia with intermediate filaments
- X-linked intellectual disability-plagiocephaly syndrome
Sometimes5–29%
13- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
- COG5-CDG
- DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
- Early infantile developmental and epileptic encephalopathy
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- HSD10 disease, infantile type
- Infantile Krabbe disease
and 5 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: Cerebral atrophy, diffuse
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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.