Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated genes and diseases:
gene_symbol: TMEM240
disease_id: ORPHA:98773
disease_name: Spinocerebellar ataxia type 21
SCA21
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: CUL4B
disease_id: OMIM:300354
disease_name: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE
gene_symbol: POLR3B
disease_id: OMIM:614381
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM
gene_symbol: MARS2
disease_id: OMIM:611390
disease_name: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE
gene_symbol: ARF1
disease_id: OMIM:618185
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 8
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: PIGS
disease_id: OMIM:618143
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18
gene_symbol: GRID2
disease_id: OMIM:616204
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18
gene_symbol: GRID2
disease_id: ORPHA:363432
disease_name: Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
SCAR18
gene_symbol: SLC39A8
disease_id: OMIM:616721
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn
gene_symbol: MME
disease_id: OMIM:617018
disease_name: SPINOCEREBELLAR ATAXIA 43
gene_symbol: MME
disease_id: ORPHA:497764
disease_name: Spinocerebellar ataxia type 43
SCA43
gene_symbol: PIK3R5
disease_id: ORPHA:64753
disease_name: Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
gene_symbol: SETX
disease_id: ORPHA:64753
disease_name: Spinocerebellar ataxia with axonal neuropathy type 2
AOA2
Ataxia-oculomotor apraxia type 2
SCAN 2
SCAR1
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: WDR4
disease_id: OMIM:618347
disease_name: GALLOWAY-MOWAT SYNDROME 6
gene_symbol: COG3
disease_id: OMIM:620546
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb
gene_symbol: CACNA2D2
disease_id: OMIM:618501
disease_name: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY
gene_symbol: SYT14
disease_id: OMIM:614229
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11
gene_symbol: SEPSECS
disease_id: OMIM:613811
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
gene_symbol: TDP1
disease_id: ORPHA:94124
disease_name: Spinocerebellar ataxia with axonal neuropathy type 1
SCAN1
gene_symbol: ELOVL5
disease_id: OMIM:615957
disease_name: SPINOCEREBELLAR ATAXIA 38
gene_symbol: PRKCG
disease_id: ORPHA:98763
disease_name: Spinocerebellar ataxia type 14
SCA14
gene_symbol: ITPR1
disease_id: ORPHA:208513
disease_name: Spinocerebellar ataxia type 29
Congenital nonprogressive spinocerebellar ataxia
SCA29
gene_symbol: ITPR1
disease_id: OMIM:117360
disease_name: SPINOCEREBELLAR ATAXIA 29
gene_symbol: ITPR1
disease_id: OMIM:606658
disease_name: SPINOCEREBELLAR ATAXIA 15
gene_symbol: ITPR1
disease_id: OMIM:206700
disease_name: GILLESPIE SYNDROME
gene_symbol: CACNA1A
disease_id: OMIM:108500
disease_name: EPISODIC ATAXIA, TYPE 2
gene_symbol: CACNA1A
disease_id: ORPHA:97
disease_name: Familial paroxysmal ataxia
Episodic ataxia type 2
gene_symbol: CNTNAP2
disease_id: ORPHA:163681
disease_name: CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: ATXN8
disease_id: ORPHA:98760
disease_name: Spinocerebellar ataxia type 8
SCA8
gene_symbol: ATXN8OS
disease_id: ORPHA:98760
disease_name: Spinocerebellar ataxia type 8
SCA8
gene_symbol: SLC9A1
disease_id: OMIM:616291
disease_name: LICHTENSTEIN-KNORR SYNDROME
gene_symbol: TUBB
disease_id: OMIM:156610
disease_name: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1
gene_symbol: TRPC3
disease_id: OMIM:616410
disease_name: SPINOCEREBELLAR ATAXIA 41
gene_symbol: TRPC3
disease_id: ORPHA:458798
disease_name: Spinocerebellar ataxia type 41
SCA41
gene_symbol: QARS1
disease_id: OMIM:615760
disease_name: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY
gene_symbol: BCL11A
disease_id: OMIM:617101
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
gene_symbol: DLG4
disease_id: OMIM:618793
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62
gene_symbol: LMX1B
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: PEX16
disease_id: OMIM:614877
disease_name: PEROXISOME BIOGENESIS DISORDER 8B
gene_symbol: GTPBP2
disease_id: OMIM:617988
disease_name: JABERI-ELAHI SYNDROME
gene_symbol: CHP1
disease_id: OMIM:618438
disease_name: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE
gene_symbol: PNPLA6
disease_id: OMIM:275400
disease_name: OLIVER-MCFARLANE SYNDROME
gene_symbol: NPTX1
disease_id: OMIM:620158
disease_name: SPINOCEREBELLAR ATAXIA 50
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
gene_symbol: PLP1
disease_id: OMIM:312080
disease_name: PELIZAEUS-MERZBACHER DISEASE
gene_symbol: DAB1
disease_id: ORPHA:363710
disease_name: Spinocerebellar ataxia type 37
SCA37
Spinocerebellar ataxia with altered vertical eye movements
gene_symbol: HTT
disease_id: ORPHA:248111
disease_name: Juvenile Huntington disease
JHD
Juvenile Huntington chorea
gene_symbol: HTT
disease_id: OMIM:617435
disease_name: LOPES-MACIEL-RODAN SYNDROME
gene_symbol: CACNA1G
disease_id: ORPHA:458803
disease_name: Spinocerebellar ataxia type 42
SCA42
gene_symbol: CACNA1G
disease_id: OMIM:618087
disease_name: SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS
gene_symbol: COX20
disease_id: OMIM:619054
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: XRCC4
disease_id: OMIM:616541
disease_name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
gene_symbol: WWOX
disease_id: OMIM:614322
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12
gene_symbol: PMPCA
disease_id: OMIM:213200
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2
gene_symbol: PMPCA
disease_id: ORPHA:1170
disease_name: Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive spinocerebellar ataxia type 2
SCAR2
gene_symbol: SCYL1
disease_id: ORPHA:466794
disease_name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Autosomal recessive spinocerebellar ataxia type 21
SCAR21
gene_symbol: SCYL1
disease_id: OMIM:616719
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21
gene_symbol: CAPN1
disease_id: OMIM:616907
disease_name: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE
gene_symbol: ADPRS
disease_id: OMIM:618170
disease_name: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES
gene_symbol: VPS41
disease_id: OMIM:619389
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29
gene_symbol: FA2H
disease_id: ORPHA:329308
disease_name: Fatty acid hydroxylase-associated neurodegeneration
FAHN
gene_symbol: FAR1
disease_id: OMIM:616154
disease_name: PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER
gene_symbol: KIF1A
disease_id: OMIM:614255
disease_name: NESCAV SYNDROME
gene_symbol: RFC1
disease_id: OMIM:614575
disease_name: CEREBELLAR ATAXIA, NEUROPATHY, AND VESTIBULAR AREFLEXIA SYNDROME
gene_symbol: GJB1
disease_id: ORPHA:1175
disease_name: X-linked progressive cerebellar ataxia
gene_symbol: OPA1
disease_id: OMIM:210000
disease_name: BEHR SYNDROME
gene_symbol: TAF4
disease_id: OMIM:620450
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 73
gene_symbol: RNU12
disease_id: ORPHA:512260
disease_name: Congenital cerebellar ataxia due to RNU12 mutation