Rare diseases · Sign or symptom
Nystagmus
Involuntary, rapid, rhythmic eye movements
HP:0000639
What it means
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Rare diseases that can present with this391
Very common80–99%
61- Åland Islands eye disease
- Alström syndrome
- Amaurosis-hypertrichosis syndrome
- Ataxia-deafness-intellectual disability syndrome
- Ataxia-telangiectasia
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Autosomal recessive malignant osteopetrosis
- Benign paroxysmal tonic upgaze of childhood with ataxia
- Cerebellar ataxia-hypogonadism syndrome
- Cerebellar hypoplasia-tapetoretinal degeneration syndrome
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- Congenital cataracts-facial dysmorphism-neuropathy syndrome
- Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
- Deaf blind hypopigmentation syndrome, Yemenite type
- Dysosteosclerosis
- Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
- Familial paroxysmal ataxia
- Foveal hypoplasia-presenile cataract syndrome
- Free sialic acid storage disease
- Frontonasal dysplasia-alopecia-genital anomalies syndrome
- GM1 gangliosidosis
- Gorlin-Chaudhry-Moss syndrome
- Griscelli syndrome type 1
- Hermansky-Pudlak syndrome
- Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
- Isolated aniridia
- Isolated complex I deficiency
- Jalili syndrome
- Mietens syndrome
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Nance-Horan syndrome
- Neonatal adrenoleukodystrophy
- NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
- Ocular albinism with late-onset sensorineural deafness
- Oculocerebral hypopigmentation syndrome, Preus type
- Oculocerebrorenal syndrome of Lowe
- Oculocutaneous albinism type 1
- Oculocutaneous albinism type 1A
- Oculocutaneous albinism type 4
- Oculocutaneous albinism type 6
- Osteoporosis-oculocutaneous hypopigmentation syndrome
- Pelizaeus-Merzbacher disease
- Pelizaeus-Merzbacher disease, classic form
- Pelizaeus-Merzbacher disease, connatal form
- Pelizaeus-Merzbacher disease, transitional form
- Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
- Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
- Progressive bifocal chorioretinal atrophy
- Retinitis pigmentosa
- Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
- Sialidosis type 1
- Spasmus nutans
- Spinocerebellar ataxia-dysmorphism syndrome
- Spinocerebellar ataxia type 3
- Spinocerebellar ataxia type 34
- Spinocerebellar ataxia type 38
- Spinocerebellar ataxia type 6
- Tremor-nystagmus-duodenal ulcer syndrome
- Xeroderma pigmentosum-Cockayne syndrome complex
- X-linked recessive ocular albinism
Common30–79%
18- 3-methylglutaconic aciduria type 3
- 6q terminal deletion syndrome
- 8p11.2deletion syndrome
- Alexander disease
- Alexander disease type II
- Alpha-N-acetylgalactosaminidase deficiency
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Alternating hemiplegia of childhood
- Arnold-Chiari malformation type I
- Ataxia-pancytopenia syndrome
- Ataxia with vitamin E deficiency
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Autosomal dominant optic atrophy and cataract
- Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive chorioretinopathy-microcephaly syndrome
- Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
- Autosomal recessive spastic paraplegia type 11
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 4 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
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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.