Rare diseases · Sign or symptom
Abnormality of eye movement
Abnormal eye movement
HP:0000496
What it means
An abnormality in voluntary or involuntary eye movements or their control.
Rare diseases that can present with this60
Very common80–99%
13- Ataxia-telangiectasia
- Benign paroxysmal tonic upgaze of childhood with ataxia
- Brain dopamine-serotonin vesicular transport disease
- Duane retraction syndrome
- Encephalopathy due to prosaposin deficiency
- Grubben-de Cock-Borghgraef syndrome
- Isolated cerebellar agenesis
- Orofaciodigital syndrome type 4
- PEHO syndrome
- Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
- Sporadic adult-onset ataxia of unknown etiology
- Wieacker-Wolff syndrome
- X-linked retinoschisis
Common30–79%
25- 4H leukodystrophy
- Adult Refsum disease
- Alexander disease
- Atypical progressive supranuclear palsy syndrome
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal recessive cerebellar ataxia-movement disorder syndrome
- Beta-propeller protein-associated neurodegeneration
- CEDNIK syndrome
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Huntington disease
- Infantile-onset ascending hereditary spastic paralysis
- Juvenile absence epilepsy
- Juvenile myoclonic epilepsy
- Keppen-Lubinsky syndrome
- Pantothenate kinase-associated neurodegeneration
- Postsynaptic congenital myasthenic syndrome
- Primary basilar invagination
- Progressive supranuclear palsy-predominant parkinsonism syndrome
- Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
- Pyruvate dehydrogenase deficiency
- Pyruvate dehydrogenase E2 deficiency
- Ravine syndrome
- Riboflavin transporter deficiency
- RNF13-related severe early-onset epileptic encephalopathy
- Spinocerebellar ataxia type 1
Sometimes5–29%
22- Adult-onset autosomal dominant leukodystrophy
- Aicardi-Goutières syndrome
- Autosomal recessive spastic paraplegia type 76
- Bickerstaff brainstem encephalitis
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
- Cerebral visual impairment
- Choreoacanthocytosis
- Combined oxidative phosphorylation defect type 13
and 14 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: Abnormal extraocular movement · Abnormal extraocular movements · Abnormal eye motility · Abnormal eye movements · Abnormal motility of the globe of the eye · Abnormal movement of the globe of the eye · Abnormal ocular movements · Eye movement abnormalities
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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.