Phenotype: Orofacial dyskinesia (HP:0002310)
Associated genes and diseases:
gene_symbol: PNPT1
disease_id: ORPHA:319514
disease_name: Combined oxidative phosphorylation defect type 13
COXPD13
gene_symbol: SLC35A1
disease_id: OMIM:603585
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf
gene_symbol: CHMP2B
disease_id: OMIM:600795
disease_name: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7
gene_symbol: PRKRA
disease_id: ORPHA:210571
disease_name: Dystonia 16
DYT16
Early-onset dystonia parkinsonism
gene_symbol: ADCY5
disease_id: ORPHA:324588
disease_name: Familial dyskinesia and facial myokymia
FDFM
gene_symbol: EXOSC5
disease_id: OMIM:619576
disease_name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
gene_symbol: GNAO1
disease_id: OMIM:617493
disease_name: NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: MICU1
disease_id: ORPHA:401768
disease_name: Proximal myopathy with extrapyramidal signs
gene_symbol: PDE10A
disease_id: ORPHA:494526
disease_name: Infantile-onset generalized dyskinesia with orofacial involvement
Infantile-onset orofacial-trunk-limbs dyskinesia
gene_symbol: PDE10A
disease_id: OMIM:616921
disease_name: DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET
gene_symbol: JAM2
disease_id: OMIM:618824
disease_name: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: MRE11
disease_id: ORPHA:251347
disease_name: Ataxia-telangiectasia-like disorder
ATLD
gene_symbol: CACNA2D1
disease_id: OMIM:620149
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 110
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: COQ2
disease_id: ORPHA:98933
disease_name: Multiple system atrophy, parkinsonian type
MSA, parkinsonian type
MSA-p
gene_symbol: GBA2
disease_id: OMIM:614409
disease_name: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE
gene_symbol: PLP1
disease_id: ORPHA:280219
disease_name: Pelizaeus-Merzbacher disease, classic form
Classic PMD
gene_symbol: SLC18A2
disease_id: ORPHA:352649
disease_name: Brain dopamine-serotonin vesicular transport disease
gene_symbol: PANK2
disease_id: OMIM:234200
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1
gene_symbol: LRPPRC
disease_id: ORPHA:70472
disease_name: Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
COX deficiency, French-Canadian type
Cytochrome C oxidase deficiency, French-Canadian type
Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type
Leigh syndrome, French-Canadian type
Leigh syndrome, Saguenay-Lac-Saint-Jean type
SLSJ-COX deficiency
gene_symbol: ATXN7
disease_id: ORPHA:94147
disease_name: Spinocerebellar ataxia type 7
Ataxia with pigmentary retinopathy
Cerebellar syndrome-pigmentary maculopathy syndrome
SCA7
gene_symbol: ATXN7
disease_id: OMIM:164500
disease_name: SPINOCEREBELLAR ATAXIA 7
gene_symbol: SLC6A3
disease_id: ORPHA:238455
disease_name: Infantile dystonia-parkinsonism
DTDS
Dopamine transporter deficiency syndrome
IPD
PKDYS
gene_symbol: FTL
disease_id: ORPHA:157846
disease_name: Neuroferritinopathy
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
gene_symbol: VPS13A
disease_id: OMIM:200150
disease_name: CHOREOACANTHOCYTOSIS
gene_symbol: IREB2
disease_id: OMIM:618451
disease_name: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
gene_symbol: FGF14
disease_id: OMIM:193003
disease_name: NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT
gene_symbol: AARS1
disease_id: OMIM:616339
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 29
gene_symbol: PI4K2A
disease_id: OMIM:620732
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: PRRT2
disease_id: OMIM:128200
disease_name: EPISODIC KINESIGENIC DYSKINESIA 1