Rare diseases · Sign or symptom
Abnormality of the nervous system
Neurologic abnormalities
HP:0000707
What it means
An abnormality of the nervous system.
The nervous system comprises the neuraxis (brain, spinal cord, and ventricles), the autonomic nervous system, the enteric nervous system, and the peripheral nervous system.
Rare diseases that can present with this98
Very common80–99%
20- Abetalipoproteinemia
- Aceruloplasminemia
- African trypanosomiasis
- ALG8-CDG
- Ataxia-oculomotor apraxia type 1
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Brachydactyly-short stature-retinitis pigmentosa syndrome
- Classic galactosemia
- Cysticercosis
- Exercise-induced malignant hyperthermia
- Glutathione synthetase deficiency
- GM1 gangliosidosis type 1
- Isolated focal cortical dysplasia
- Morgagni-Stewart-Morel syndrome
- Mosaic trisomy 15 syndrome
- Neurofibromatosis type 1
- Polymicrogyria with optic nerve hypoplasia
- Progressive multifocal leukoencephalopathy
- SLC35A2-CDG
- Spinal fast-flow vascular malformation
Common30–79%
32- AGel amyloidosis
- ALG2-CDG
- ALG6-CDG
- Autosomal recessive methemoglobinemia
- Axial mesodermal dysplasia spectrum
- Biotinidase deficiency
- Brain-lung-thyroid syndrome
- Combined oxidative phosphorylation defect type 23
- Congenital enterovirus infection
- Congenital vertical talus
- Diabetic embryopathy
- Extracranial carotid artery aneurysm
- Farber disease
- Hemophagocytic syndrome associated with an infection
- Hereditary neurocutaneous malformation
- Idiopathic camptocormia
- Infantile epileptic spasms syndrome
- Infection-related hemolytic uremic syndrome
- Lujo hemorrhagic fever
- Maternal uniparental disomy of chromosome 4 syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
- Pearson syndrome
- Porphyria due to ALA dehydratase deficiency
- Primary Sjögren disease
- Purine nucleoside phosphorylase deficiency
- Pyruvate dehydrogenase E1-alpha deficiency
- Pyruvate dehydrogenase E2 deficiency
- Resistance to thyrotropin-releasing hormone syndrome
- Schimke immuno-osseous dysplasia
- Severe phosphoribosylpyrophosphate synthetase superactivity
- Variegate porphyria
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: Brain and/or spinal cord issue · Neurological abnormality
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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.