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7 OMIM references -
8 associated genes
41 connected diseases
10 signs/symptoms
Disease Type of connection
Narcolepsy without cataplexy
Bullous pemphigoid
Diffuse cutaneous systemic sclerosis
Follicular lymphoma
Limited cutaneous systemic sclerosis
Limited systemic sclerosis
Exfoliative ichthyosis
Graham Little-Piccardi-Lassueur syndrome
Unverricht-Lundborg disease
17p13.3 microduplication syndrome
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Common variable immunodeficiency
Distal 17p13.3 microdeletion syndrome
Huntington disease
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Juvenile Huntington disease
Miller-Dieker syndrome
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Familial Alzheimer-like prion disease
Fatal familial insomnia
Gerstmann-Straussler-Scheinker syndrome
Huntington disease-like 1
Inherited Creutzfeldt-Jakob disease
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Congenital pulmonary alveolar proteinosis
Infant acute respiratory distress syndrome
Neonatal acute respiratory distress with surfactant metabolism deficiency
Precursor T-cell acute lymphoblastic leukemia
- GĂ©lineau disease

Classification (Orphanet):
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: unknown
External references:
7 OMIM references -
1 MeSH reference: D009290

Very frequent
- Delirium / hallucination
- Muscle weakness / flaccidity
- Sleep and vigilance disorders
- Somnolence / hypersomnia / parasomnia
- Troubles of memory / amnesia / hypermnesia

- Abnormal eye movements / oculomotor disorder
- Anomalies of eyes and vision

- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Generalized obesity
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia