Rare diseases · Sign or symptom
Cognitive impairment
Abnormality of cognition
HP:0100543
What it means
Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.
An individual with cognitive impairment may experience difficulties in remembering, learning new things, concentrating, or making decisions.
Rare diseases that can present with this251
Very common80–99%
64- Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
- Ataxia-photosensitivity-short stature syndrome
- Autosomal recessive spastic paraplegia type 78
- Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
- Brain dopamine-serotonin vesicular transport disease
- Canavan disease
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- COASY protein-associated neurodegeneration
- Contractures-ectodermal dysplasia-cleft lip/palate syndrome
- Craniosynostosis, Herrmann-Opitz type
- Distal deletion 3p syndrome
- Distal duplication 14q syndrome
- Distal duplication 18q syndrome
- Duchenne muscular dystrophy
- Endocardial fibroelastosis
- Epilepsy of infancy with migrating focal seizures
- Familial Alzheimer-like prion disease
- Fetal alcohol syndrome
- Foix-Chavany-Marie syndrome
- Galloway-Mowat syndrome
- Gerstmann-Straussler-Scheinker syndrome
- Glycogen storage disease due to glucose-6-phosphatase deficiency
- GM2 gangliosidosis, AB variant
- Gómez-López-Hernández syndrome
- Holoprosencephaly-craniosynostosis syndrome
- Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
- Hypomandibular faciocranial dysostosis
- Kleine-Levin syndrome
- L-Arginine:glycine amidinotransferase deficiency
- Lissencephaly type 1 due to doublecortin gene mutation
- Lysosomal acid lipase deficiency
- Maternal hyperthermia-induced birth defects
- Microcephaly-brain defect-spasticity-hypernatremia syndrome
- Microcephaly-cardiac defect-lung malsegmentation syndrome
- Microcephaly-cardiomyopathy syndrome
- Monoamine oxidase A deficiency
- Muscle-eye-brain disease
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Neuroferritinopathy
- Non-distal deletion 10q syndrome
- Non-distal duplication 10q syndrome
- Non-distal duplication 13q syndrome
- Obesity due to SIM1 deficiency
- Polymicrogyria due to TUBB2B mutation
- Progeria-short stature-pigmented nevi syndrome
- Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
- Progressive familial intrahepatic cholestasis
- Prominent glabella-microcephaly-hypogenitalism syndrome
- Reactive arthritis
- Rhizomelic syndrome, Urbach type
- Ring chromosome 1 syndrome
- Seckel syndrome
- Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
- Short stature-wormian bones-dextrocardia syndrome
- Symmetrical thalamic calcifications
- Thanatophoric dysplasia type 2
- Trisomy 13 syndrome
- Trisomy 18 syndrome
- Trisomy 20p syndrome
- Trisomy 4p syndrome
- Vogt-Koyanagi-Harada disease
- Xeroderma pigmentosum
- X-linked adrenoleukodystrophy
- Zellweger syndrome
Common30–79%
15- Aarskog-Scott syndrome
- Aceruloplasminemia
- Acquired aneurysmal subarachnoid hemorrhage
- Acromesomelic dysplasia, Hunter-Thompson type
- Amyotrophic lateral sclerosis
- Ataxia-oculomotor apraxia type 4
- Autosomal recessive cerebelloparenchymal disorder type 3
- Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
- Autosomal recessive spastic paraplegia type 20
- Autosomal recessive spastic paraplegia type 35
- Autosomal recessive spastic paraplegia type 46
- Autosomal recessive spastic paraplegia type 48
- Bardet-Biedl syndrome
- Bilateral polymicrogyria
- Brain arteriovenous malformation, nidus type
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 1 disease 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: Cognitive abnormality · Cognitive defects · Cognitive deficits · Intellectual impairment
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.