Phenotype: Hypokinesia (HP:0002375)
Associated genes and diseases:
gene_symbol: AIFM1
disease_id: ORPHA:238329
disease_name: Severe X-linked mitochondrial encephalomyopathy
Mitochondrial encephalomyopathy due to COXPD6
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
gene_symbol: AIFM1
disease_id: OMIM:300816
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
gene_symbol: SLC25A4
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: KIF21A
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: NUP88
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: TUBA1A
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MYOD1
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MAGEL2
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: MUSK
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: RAPSN
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: GLDN
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: SLC18A3
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: DOK7
disease_id: ORPHA:994
disease_name: Fetal akinesia deformation sequence
Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
FADS
Pena-Shokeir syndrome type 1
gene_symbol: HTT
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: SLC2A3
disease_id: ORPHA:399
disease_name: Huntington disease
Huntington chorea
gene_symbol: MPZ
disease_id: OMIM:618184
disease_name: NEUROPATHY, CONGENITAL HYPOMYELINATING, 2
gene_symbol: TH
disease_id: OMIM:605407
disease_name: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: TH
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: PRKN
disease_id: OMIM:600116
disease_name: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: FRRS1L
disease_id: OMIM:616981
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37
gene_symbol: SLC39A14
disease_id: OMIM:617013
disease_name: HYPERMANGANESEMIA WITH DYSTONIA 2
gene_symbol: CLTC
disease_id: OMIM:617854
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
gene_symbol: PDE8B
disease_id: OMIM:609161
disease_name: STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 1
gene_symbol: GFM1
disease_id: OMIM:609060
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
gene_symbol: LGI3
disease_id: OMIM:620007
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS
gene_symbol: TSPOAP1
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: MTM1
disease_id: OMIM:310400
disease_name: MYOPATHY, CENTRONUCLEAR, X-LINKED
gene_symbol: GBA1
disease_id: OMIM:608013
disease_name: GAUCHER DISEASE, PERINATAL LETHAL
gene_symbol: SLC52A2
disease_id: OMIM:614707
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 2
gene_symbol: ATP13A2
disease_id: OMIM:606693
disease_name: KUFOR-RAKEB SYNDROME
gene_symbol: PET117
disease_id: OMIM:619063
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19
gene_symbol: SLC16A2
disease_id: ORPHA:59
disease_name: Allan-Herndon-Dudley syndrome
AHDS
MCT8 deficiency
Monocarboxylate transporter 8 deficiency
X-linked intellectual disability-hypotonia syndrome
gene_symbol: PPP2R2B
disease_id: ORPHA:98762
disease_name: Spinocerebellar ataxia type 12
SCA12
gene_symbol: SLC6A3
disease_id: ORPHA:238455
disease_name: Infantile dystonia-parkinsonism
DTDS
Dopamine transporter deficiency syndrome
IPD
PKDYS
gene_symbol: ACTA1
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: ACTA1
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: ACTA1
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: LMOD3
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: LMOD3
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: CFL2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: DPM2
disease_id: OMIM:615042
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu
gene_symbol: ALG11
disease_id: ORPHA:280071
disease_name: ALG11-CDG
CDG syndrome type Ip
CDG-Ip
CDG1P
Carbohydrate deficient glycoprotein syndrome type Ip
Congenital disorder of glycosylation type 1p
Congenital disorder of glycosylation type Ip
gene_symbol: TPM3
disease_id: ORPHA:171433
disease_name: Intermediate nemaline myopathy
gene_symbol: PRNP
disease_id: ORPHA:157941
disease_name: Huntington disease-like 1
Early-onset prion disease with prominent psychiatric features
HDL1
gene_symbol: WWOX
disease_id: OMIM:616211
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 28
gene_symbol: KLHL40
disease_id: ORPHA:171430
disease_name: Severe congenital nemaline myopathy
gene_symbol: DDC
disease_id: ORPHA:35708
disease_name: Aromatic L-amino acid decarboxylase deficiency
AADC deficiency
gene_symbol: PAM16
disease_id: OMIM:613320
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE
gene_symbol: GPHN
disease_id: OMIM:149400
disease_name: HYPEREKPLEXIA 1
gene_symbol: GLRA1
disease_id: OMIM:149400
disease_name: HYPEREKPLEXIA 1
gene_symbol: MRPS16
disease_id: OMIM:610498
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2
gene_symbol: SNCA
disease_id: OMIM:168601
disease_name: PARKINSON DISEASE 1, AUTOSOMAL DOMINANT
gene_symbol: ATP7B
disease_id: OMIM:277900
disease_name: WILSON DISEASE
gene_symbol: LAMA2
disease_id: ORPHA:258
disease_name: Laminin subunit alpha 2-related congenital muscular dystrophy
CMD1A
Congenital muscular dystrophy due to laminin alpha2 deficiency
Congenital muscular dystrophy type 1A
MDC1A
Merosin-negative congenital muscular dystrophy