Rare diseases · Sign or symptom
Sleep disturbance
Difficulty sleeping
HP:0002360
What it means
An abnormal pattern in the quality, quantity, or characteristics of sleep.
Rare diseases that can present with this172
Very common80–99%
23- African trypanosomiasis
- Alexander disease
- Angelman syndrome
- Atypical Rett syndrome
- Brain dopamine-serotonin vesicular transport disease
- CK syndrome
- Encephalitis lethargica
- Familial Alzheimer-like prion disease
- Hypermobile Ehlers-Danlos syndrome
- Idiopathic hypersomnia
- Infant botulism
- Intellectual disability-epilepsy-extrapyramidal syndrome
- Mucopolysaccharidosis type 3
- Muscular pseudohypertrophy-hypothyroidism syndrome
- Narcolepsy type 1
- Narcolepsy type 2
- Opsoclonus-myoclonus syndrome
- Perry syndrome
- Pitt-Hopkins syndrome
- Pontocerebellar hypoplasia type 2
- Progeria-short stature-pigmented nevi syndrome
- Smith-Magenis syndrome
- X-linked intellectual disability-psychosis-macroorchidism syndrome
Common30–79%
57- 17q11microdeletion syndrome
- 2q23.1microdeletion syndrome
- 2q23.1microduplication syndrome
- Allan-Herndon-Dudley syndrome
- ANK3-related intellectual disability-sleep disturbance syndrome
- Aromatic L-amino acid decarboxylase deficiency
- Autosomal dominant dopa-responsive dystonia
- Beta-propeller protein-associated neurodegeneration
- Bohring-Opitz syndrome
- Bronchopulmonary dysplasia
- Caribbean parkinsonism
- Chronic hiccup
- Citrullinemia type II
- Cornelia de Lange syndrome
- Craniopharyngioma
- Dopamine beta-hydroxylase deficiency
- Dopa-responsive dystonia due to sepiapterin reductase deficiency
- Early infantile developmental and epileptic encephalopathy
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
- Familial gestational hyperthyroidism
- Familial hyperthyroidism due to mutations in TSH receptor
- Familial Mediterranean fever
- FOXG1 syndrome
- Fragile X syndrome
- Gerstmann-Straussler-Scheinker syndrome
- Hereditary hyperekplexia
- HIDEA syndrome
- High altitude pulmonary edema
- Hurler syndrome
- Hyperprolinemia type 2
- Hypophosphatasia
- Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- Kleefstra syndrome
- Leukocyte adhesion deficiency type II
- Marfan syndrome
- Mowat-Wilson syndrome
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Mucopolysaccharidosis type 2
- MYT1L-related developmental delay-intellectual disability-obesity syndrome
- Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
- PANDAS
- Parkinsonian-pyramidal syndrome
- Phelan-McDermid syndrome
- PMP22-RAI1 contiguous gene duplication syndrome
- Prader-Willi syndrome due to paternal 15q11q13 deletion
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
- SATB2-associated syndrome due to a pathogenic variant
- Severe Canavan disease
- Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
- Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
- Silver-Russell syndrome
- Smith-Lemli-Opitz syndrome
- Spontaneous periodic hypothermia
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: Sleep abnormality · Sleep disturbances · Sleep dysfunction · Sleep-wake disturbance · Trouble sleeping
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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.