Human Phenotype Ontology 
Grandparent Node:
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Abnormal metencephalon morphology (HP:0011283)help
Parent Node:
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Abnormal cerebellum morphology (HP:0001317)help
..Starting node
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Cerebellar atrophy (HP:0001272)help
Term ID: 1272
Name: Cerebellar atrophy
Synonym: Atrophic cerebellum; Degeneration of cerebellum; Infratentorial atrophy
Definition: Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Comments:
Reference: HP:0001272
Genes and Diseases:
 
       Child Nodes:
........expandPontocerebellar atrophy (HP:0006879) help
........expandSpinocerebellar atrophy (HP:0007263) help
........expandCerebellar cortical atrophy (HP:0008278) help
........expandCerebellar granular layer atrophy (HP:0012080) help
........expandCerebellar Purkinje layer atrophy (HP:0012082) help
........expandDiffuse cerebellar atrophy (HP:0100275) help

 Sister Nodes: 
..expandAbnormal cerebellar cortex morphology (HP:0031422) help
..expandAbnormal dentate nucleus morphology (HP:0100321) help
..expandAplasia/Hypoplasia of the cerebellum (HP:0007360) help
..expandAtaxia (HP:0001251) help
..expandCerebellar calcifications (HP:0007352) help
..expandCerebellar dysplasia (HP:0007033) help
..expandCerebellar edema (HP:0030915) help
..expandCerebellar gliosis (HP:0012698) help
..expandCerebellar hemangioblastoma (HP:0006880) help
..expandCerebellar malformation (HP:0002438) help
..expandDysplastic gangliocytoma of the cerebellum (HP:0500009) help
..expandEnlarged cerebellum (HP:0012081) help
..expandFusion of the cerebellar hemispheres (HP:0006899) help
..expandOlivopontocerebellar atrophy (HP:0002542) help
..expandRecurrent subcortical infarcts (HP:0007236) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001272HP:0001272Cerebellar atrophy0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001272HP:0001272Cerebellar atrophy0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001272HP:0001272Cerebellar atrophy0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM194177104620
HP:0001272HP:0001272Cerebellar atrophy0ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001272HP:0001272Cerebellar atrophy0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001272HP:0001272Cerebellar atrophy0AGTPBP1 CL E G H23287618276618276618276OMIM16617258606830
HP:0001272HP:0001272Cerebellar atrophy0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM112520609600859
HP:0001272HP:0001272Cerebellar atrophy0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001272HP:0001272Cerebellar atrophy0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM123615672606941
HP:0001272HP:0001272Cerebellar atrophy0ANO10 CL E G H55129284289ORPHA124025519613726
HP:0001272HP:0001272Cerebellar atrophy0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM124025519613726
HP:0001272HP:0001272Cerebellar atrophy0AP4B1 CL E G H10717280763ORPHA1300572607245
HP:0001272HP:0001272Cerebellar atrophy0AP4E1 CL E G H23431280763ORPHA1377573607244
HP:0001272HP:0001272Cerebellar atrophy0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001272HP:0001272Cerebellar atrophy0AP4M1 CL E G H9179280763ORPHA1311574602296
HP:0001272HP:0001272Cerebellar atrophy0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001272HP:0001272Cerebellar atrophy0AP4S1 CL E G H11154280763ORPHA1122575607243
HP:0001272HP:0001272Cerebellar atrophy0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001272HP:0001272Cerebellar atrophy0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0001272HP:0001272Cerebellar atrophy0ATP13A2 CL E G H23400513436ORPHA173830213610513
HP:0001272HP:0001272Cerebellar atrophy0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM173830213610513
HP:0001272HP:0001272Cerebellar atrophy0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0001272HP:0001272Cerebellar atrophy0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001272HP:0001272Cerebellar atrophy0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1123851607027
HP:0001272HP:0001272Cerebellar atrophy0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM127113533605870
HP:0001272HP:0001272Cerebellar atrophy0ATXN1 CL E G H631098755ORPHA18610548601556
HP:0001272HP:0001272Cerebellar atrophy0ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0001272HP:0001272Cerebellar atrophy0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H4287276241ORPHA1467106607047
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H4287276244ORPHA1467106607047
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H4287276238ORPHA1467106607047
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0001272HP:0001272Cerebellar atrophy0ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001272HP:0001272Cerebellar atrophy0ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001272HP:0001272Cerebellar atrophy0ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001272HP:0001272Cerebellar atrophy0ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0001272HP:0001272Cerebellar atrophy0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0001272HP:0001272Cerebellar atrophy0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130816695300398
HP:0001272HP:0001272Cerebellar atrophy0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001272HP:0001272Cerebellar atrophy0BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001272HP:0001272Cerebellar atrophy0BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0001272HP:0001272Cerebellar atrophy0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM126891388601011
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0001272HP:0001272Cerebellar atrophy0CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0001272HP:0001272Cerebellar atrophy0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0001272HP:0001272Cerebellar atrophy0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001272HP:0001272Cerebellar atrophy0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM111026877616174
HP:0001272HP:0001272Cerebellar atrophy0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0001272HP:0001272Cerebellar atrophy0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0001272HP:0001272Cerebellar atrophy0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001272HP:0001272Cerebellar atrophy0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001272HP:0001272Cerebellar atrophy0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001272HP:0001272Cerebellar atrophy0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0001272HP:0001272Cerebellar atrophy0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM159914857606821
HP:0001272HP:0001272Cerebellar atrophy0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0001272HP:0001272Cerebellar atrophy0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM119118623606979
HP:0001272HP:0001272Cerebellar atrophy0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM120792195120328
HP:0001272HP:0001272Cerebellar atrophy0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0001272HP:0001272Cerebellar atrophy0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM120525223609825
HP:0001272HP:0001272Cerebellar atrophy0COQ8A CL E G H56997139485ORPHA150416812606980
HP:0001272HP:0001272Cerebellar atrophy0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM150416812606980
HP:0001272HP:0001272Cerebellar atrophy0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM118325302612837
HP:0001272HP:0001272Cerebellar atrophy0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM11322342600184
HP:0001272HP:0001272Cerebellar atrophy0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM15272529116840
HP:0001272HP:0001272Cerebellar atrophy0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11822531603539
HP:0001272HP:0001272Cerebellar atrophy0CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM141613760606323
HP:0001272HP:0001272Cerebellar atrophy0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0001272HP:0001272Cerebellar atrophy0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1822661603448
HP:0001272HP:0001272Cerebellar atrophy0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM17416716616423
HP:0001272HP:0001272Cerebellar atrophy0DNAJC3 CL E G H5611445062ORPHA11059439601184
HP:0001272HP:0001272Cerebellar atrophy0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM11059439601184
HP:0001272HP:0001272Cerebellar atrophy0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM19952976126375
HP:0001272HP:0001272Cerebellar atrophy0EEF2 CL E G H1938101112ORPHA12043214130610
HP:0001272HP:0001272Cerebellar atrophy0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM12043214130610
HP:0001272HP:0001272Cerebellar atrophy0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM124214415605512
HP:0001272HP:0001272Cerebellar atrophy0ELOVL5 CL E G H60481423296ORPHA16321308611805
HP:0001272HP:0001272Cerebellar atrophy0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM16321308611805
HP:0001272HP:0001272Cerebellar atrophy0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM13683435133510
HP:0001272HP:0001272Cerebellar atrophy0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM111703438609413
HP:0001272HP:0001272Cerebellar atrophy0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM119417097602238
HP:0001272HP:0001272Cerebellar atrophy0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM119017944606489
HP:0001272HP:0001272Cerebellar atrophy0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11569137606180
HP:0001272HP:0001272Cerebellar atrophy0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM131221197611026
HP:0001272HP:0001272Cerebellar atrophy0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM147921062611592
HP:0001272HP:0001272Cerebellar atrophy0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11883596604269
HP:0001272HP:0001272Cerebellar atrophy0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM12103668601513
HP:0001272HP:0001272Cerebellar atrophy0FKRP CL E G H79147370980ORPHA178717997606596
HP:0001272HP:0001272Cerebellar atrophy0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0001272HP:0001272Cerebellar atrophy0FKTN CL E G H2218370980ORPHA17833622607440
HP:0001272HP:0001272Cerebellar atrophy0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13383775309550
HP:0001272HP:0001272Cerebellar atrophy0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM125526927613622
HP:0001272HP:0001272Cerebellar atrophy0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM13411362604574
HP:0001272HP:0001272Cerebellar atrophy0GBA2 CL E G H57704320391ORPHA127718986609471
HP:0001272HP:0001272Cerebellar atrophy0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM127718986609471
HP:0001272HP:0001272Cerebellar atrophy0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0001272HP:0001272Cerebellar atrophy0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11584576602368
HP:0001272HP:0001272Cerebellar atrophy0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM12164593604473
HP:0001272HP:0001272Cerebellar atrophy0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM12164593604473
HP:0001272HP:0001272Cerebellar atrophy0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM14174601138945
HP:0001272HP:0001272Cerebellar atrophy0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1794670607434
HP:0001272HP:0001272Cerebellar atrophy0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM124726361611642
HP:0001272HP:0001272Cerebellar atrophy0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM17354851613004
HP:0001272HP:0001272Cerebellar atrophy0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM17354851613004
HP:0001272HP:0001272Cerebellar atrophy0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM116714282611720
HP:0001272HP:0001272Cerebellar atrophy0ISPD CL E G H729920370980ORPHA164737276614631
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H370898769ORPHA111346180147265
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H3708208513ORPHA111346180147265
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM111346180147265
HP:0001272HP:0001272Cerebellar atrophy0KCNC3 CL E G H374898768ORPHA12166235176264
HP:0001272HP:0001272Cerebellar atrophy0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM12166235176264
HP:0001272HP:0001272Cerebellar atrophy0KCND3 CL E G H375298772ORPHA13996239605411
HP:0001272HP:0001272Cerebellar atrophy0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM13996239605411
HP:0001272HP:0001272Cerebellar atrophy0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13356256602208
HP:0001272HP:0001272Cerebellar atrophy0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM18686284600150
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H5472836ORPHA12132888601255
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM12132888601255
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM12132888601255
HP:0001272HP:0001272Cerebellar atrophy0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM117920499609584
HP:0001272HP:0001272Cerebellar atrophy0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM123326058300060
HP:0001272HP:0001272Cerebellar atrophy0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM19829569610284
HP:0001272HP:0001272Cerebellar atrophy0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM14421610610236
HP:0001272HP:0001272Cerebellar atrophy0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11716783159460
HP:0001272HP:0001272Cerebellar atrophy0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM110156826609458
HP:0001272HP:0001272Cerebellar atrophy0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM113025133609728
HP:0001272HP:0001272Cerebellar atrophy0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM113025133609728
HP:0001272HP:0001272Cerebellar atrophy0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM153813356605248
HP:0001272HP:0001272Cerebellar atrophy0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM14636971154100
HP:0001272HP:0001272Cerebellar atrophy0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111724858614785
HP:0001272HP:0001272Cerebellar atrophy0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM168728486611124
HP:0001272HP:0001272Cerebellar atrophy0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM14227154120520
HP:0001272HP:0001272Cerebellar atrophy0MRE11 CL E G H4361251347ORPHA117297230600814
HP:0001272HP:0001272Cerebellar atrophy0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM117297230600814
HP:0001272HP:0001272Cerebellar atrophy0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM14707530251170
HP:0001272HP:0001272Cerebellar atrophy0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM16417573160720
HP:0001272HP:0001272Cerebellar atrophy0NADK2 CL E G H133686431361ORPHA116426404615787
HP:0001272HP:0001272Cerebellar atrophy0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM120626274612803
HP:0001272HP:0001272Cerebellar atrophy0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11797693603834
HP:0001272HP:0001272Cerebellar atrophy0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13327707157655
HP:0001272HP:0001272Cerebellar atrophy0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11047711602694
HP:0001272HP:0001272Cerebellar atrophy0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM117219321605955
HP:0001272HP:0001272Cerebellar atrophy0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM18858140605290
HP:0001272HP:0001272Cerebellar atrophy0OPA3 CL E G H8020767036ORPHA14488142606580
HP:0001272HP:0001272Cerebellar atrophy0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM110618028610107
HP:0001272HP:0001272Cerebellar atrophy0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1156613406604918
HP:0001272HP:0001272Cerebellar atrophy0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1418729176740
HP:0001272HP:0001272Cerebellar atrophy0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11678820131340
HP:0001272HP:0001272Cerebellar atrophy0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM16548851602859
HP:0001272HP:0001272Cerebellar atrophy0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM13669717170993
HP:0001272HP:0001272Cerebellar atrophy0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM116114938610272
HP:0001272HP:0001272Cerebellar atrophy0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0001272HP:0001272Cerebellar atrophy0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15989039603604
HP:0001272HP:0001272Cerebellar atrophy0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15989039603604
HP:0001272HP:0001272Cerebellar atrophy0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12217158615698
HP:0001272HP:0001272Cerebellar atrophy0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM140711397605031
HP:0001272HP:0001272Cerebellar atrophy0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1689119603131
HP:0001272HP:0001272Cerebellar atrophy0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM18759154605610
HP:0001272HP:0001272Cerebellar atrophy0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM119179179174763
HP:0001272HP:0001272Cerebellar atrophy0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM178530074614258
HP:0001272HP:0001272Cerebellar atrophy0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM136830348614366
HP:0001272HP:0001272Cerebellar atrophy0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM136830348614366
HP:0001272HP:0001272Cerebellar atrophy0POMT1 CL E G H10585370980ORPHA17379202607423
HP:0001272HP:0001272Cerebellar atrophy0PPP2R2B CL E G H552198762ORPHA1449305604325
HP:0001272HP:0001272Cerebellar atrophy0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1449305604325
HP:0001272HP:0001272Cerebellar atrophy0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12909402176980
HP:0001272HP:0001272Cerebellar atrophy0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11649449176640
HP:0001272HP:0001272Cerebellar atrophy0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM14113420617413
HP:0001272HP:0001272Cerebellar atrophy0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM14124265608625
HP:0001272HP:0001272Cerebellar atrophy0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM151321406611524
HP:0001272HP:0001272Cerebellar atrophy0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM18015578614825
HP:0001272HP:0001272Cerebellar atrophy0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM110418466604123
HP:0001272HP:0001272Cerebellar atrophy0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM131418518606034
HP:0001272HP:0001272Cerebellar atrophy0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM121121698609948
HP:0001272HP:0001272Cerebellar atrophy0RNU12 CL E G H267010512260ORPHA111193800
HP:0001272HP:0001272Cerebellar atrophy0SACS CL E G H2627898ORPHA1250610519604490
HP:0001272HP:0001272Cerebellar atrophy0SAMD9L CL E G H2192852585ORPHA13791349611170
HP:0001272HP:0001272Cerebellar atrophy0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM13791349611170
HP:0001272HP:0001272Cerebellar atrophy0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM14221665602257
HP:0001272HP:0001272Cerebellar atrophy0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM17314372607982
HP:0001272HP:0001272Cerebellar atrophy0SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM139030605613009
HP:0001272HP:0001272Cerebellar atrophy0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM131221061614725
HP:0001272HP:0001272Cerebellar atrophy0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM114595603690
HP:0001272HP:0001272Cerebellar atrophy0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM111120862608732
HP:0001272HP:0001272Cerebellar atrophy0SLC9A6 CL E G H1047985278ORPHA153611079300231
HP:0001272HP:0001272Cerebellar atrophy0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM153611079300231
HP:0001272HP:0001272Cerebellar atrophy0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM116214977616105
HP:0001272HP:0001272Cerebellar atrophy0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM127418514607111
HP:0001272HP:0001272Cerebellar atrophy0SPG7 CL E G H668799013ORPHA177811237602783
HP:0001272HP:0001272Cerebellar atrophy0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM177811237602783
HP:0001272HP:0001272Cerebellar atrophy0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1180711273182810
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H671298766ORPHA171611276604985
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H6712352403ORPHA171611276604985
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM171611276604985
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM171611276604985
HP:0001272HP:0001272Cerebellar atrophy0STT3A CL E G H3703370921ORPHA11996172601134
HP:0001272HP:0001272Cerebellar atrophy0STT3A CL E G H3703615596Congenital disorder of glycosylation type 1w615596C3810062OMIM11996172601134
HP:0001272HP:0001272Cerebellar atrophy0STT3B CL E G H201595370924ORPHA112930611608605
HP:0001272HP:0001272Cerebellar atrophy0STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM112930611608605
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H10273412057ORPHA117011427607207
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H10273618093SPINOCEREBELLAR ATAXIA 48618093OMIM117011427607207
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM117011427607207
HP:0001272HP:0001272Cerebellar atrophy0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM156420376607939
HP:0001272HP:0001272Cerebellar atrophy0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1459817089608441
HP:0001272HP:0001272Cerebellar atrophy0SYT14 CL E G H255928284271ORPHA19223143610949
HP:0001272HP:0001272Cerebellar atrophy0SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM19223143610949
HP:0001272HP:0001272Cerebellar atrophy0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM115416133611663
HP:0001272HP:0001272Cerebellar atrophy0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM144511581604649
HP:0001272HP:0001272Cerebellar atrophy0TBCE CL E G H6905496756ORPHA135711582604934
HP:0001272HP:0001272Cerebellar atrophy0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM135711582604934
HP:0001272HP:0001272Cerebellar atrophy0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM111611588600075
HP:0001272HP:0001272Cerebellar atrophy0TGM6 CL E G H343641276193ORPHA128916255613900
HP:0001272HP:0001272Cerebellar atrophy0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM128916255613900
HP:0001272HP:0001272Cerebellar atrophy0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM119225186616101
HP:0001272HP:0001272Cerebellar atrophy0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM119911992601243
HP:0001272HP:0001272Cerebellar atrophy0TPP1 CL E G H1200284324ORPHA18492073607998
HP:0001272HP:0001272Cerebellar atrophy0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM18492073607998
HP:0001272HP:0001272Cerebellar atrophy0TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM15523066610397
HP:0001272HP:0001272Cerebellar atrophy0TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM14412335602345
HP:0001272HP:0001272Cerebellar atrophy0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM123928422608753
HP:0001272HP:0001272Cerebellar atrophy0TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM123419141611695
HP:0001272HP:0001272Cerebellar atrophy0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM126326006613814
HP:0001272HP:0001272Cerebellar atrophy0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM121920774602662
HP:0001272HP:0001272Cerebellar atrophy0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM13081160606075
HP:0001272HP:0001272Cerebellar atrophy0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM15017772609063
HP:0001272HP:0001272Cerebellar atrophy0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM115723230610552
HP:0001272HP:0001272Cerebellar atrophy0UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM115723230610552
HP:0001272HP:0001272Cerebellar atrophy0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM15512511600673
HP:0001272HP:0001272Cerebellar atrophy0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM111112513191342
HP:0001272HP:0001272Cerebellar atrophy0UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM16520597610553
HP:0001272HP:0001272Cerebellar atrophy0VARS CL E G H7407617802NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY617802C4540493OMIM112651192150
HP:0001272HP:0001272Cerebellar atrophy0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM150712698192977
HP:0001272HP:0001272Cerebellar atrophy0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM113914583608549
HP:0001272HP:0001272Cerebellar atrophy0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM131525608615850
HP:0001272HP:0001272Cerebellar atrophy0VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM16328385614884
HP:0001272HP:0001272Cerebellar atrophy0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM18012730604733
HP:0001272HP:0001272Cerebellar atrophy0WDR45 CL E G H11152329284ORPHA150428912300526
HP:0001272HP:0001272Cerebellar atrophy0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM150428912300526
HP:0001272HP:0001272Cerebellar atrophy0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM126626600614218
HP:0001272HP:0001272Cerebellar atrophy0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM196712799605131
HP:0001272HP:0001272Cerebellar atrophy0XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM15212828194360
HP:0001272HP:0001272Cerebellar atrophy0ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM19012872600470
HP:0001272HP:0001272Cerebellar atrophy0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM131115807610827
HP:0001272HP:0001272Cerebellar atrophy0ZNHIT3 CL E G H93262836ORPHA111012309604500
HP:0001272HP:0001272Cerebellar atrophy0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM111012309604500
HP:0001272HP:0012080Cerebellar granular layer atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001272HP:0007263Spinocerebellar atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001272HP:0008278Cerebellar cortical atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001272HP:0006855Cerebellar vermis atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001272HP:0100275Diffuse cerebellar atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001272HP:0006879Pontocerebellar atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM143015868613599
HP:0001272HP:0012080Cerebellar granular layer atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001272HP:0008278Cerebellar cortical atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001272HP:0007263Spinocerebellar atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001272HP:0006855Cerebellar vermis atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001272HP:0100275Diffuse cerebellar atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001272HP:0006879Pontocerebellar atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1507118100850
HP:0001272HP:0012080Cerebellar granular layer atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM194177104620
HP:0001272HP:0008278Cerebellar cortical atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM194177104620
HP:0001272HP:0007263Spinocerebellar atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM194177104620
HP:0001272HP:0006855Cerebellar vermis atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM194177104620
HP:0001272HP:0100275Diffuse cerebellar atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM194177104620
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM194177104620
HP:0001272HP:0006879Pontocerebellar atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM194177104620
HP:0001272HP:0006879Pontocerebellar atrophy1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001272HP:0012080Cerebellar granular layer atrophy1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001272HP:0008278Cerebellar cortical atrophy1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001272HP:0007263Spinocerebellar atrophy1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001272HP:0006855Cerebellar vermis atrophy1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001272HP:0100275Diffuse cerebellar atrophy1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001272HP:0008278Cerebellar cortical atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0001272HP:0007263Spinocerebellar atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0001272HP:0006855Cerebellar vermis atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0001272HP:0100275Diffuse cerebellar atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0001272HP:0006879Pontocerebellar atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0001272HP:0012080Cerebellar granular layer atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1639291608222
HP:0001272HP:0006855Cerebellar vermis atrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0001272HP:0100275Diffuse cerebellar atrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0001272HP:0006879Pontocerebellar atrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0001272HP:0012080Cerebellar granular layer atrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0001272HP:0008278Cerebellar cortical atrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0001272HP:0007263Spinocerebellar atrophy1AFG3L2 CL E G H10939313772ORPHA1385315604581
HP:0001272HP:0012080Cerebellar granular layer atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0001272HP:0007263Spinocerebellar atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0001272HP:0008278Cerebellar cortical atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0001272HP:0100275Diffuse cerebellar atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0001272HP:0006855Cerebellar vermis atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0001272HP:0006879Pontocerebellar atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1385315604581
HP:0001272HP:0012080Cerebellar granular layer atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001272HP:0008278Cerebellar cortical atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001272HP:0007263Spinocerebellar atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001272HP:0006855Cerebellar vermis atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001272HP:0100275Diffuse cerebellar atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001272HP:0006879Pontocerebellar atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1385315604581
HP:0001272HP:0006879Pontocerebellar atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16617258606830
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16617258606830
HP:0001272HP:0012080Cerebellar granular layer atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16617258606830
HP:0001272HP:0008278Cerebellar cortical atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16617258606830
HP:0001272HP:0007263Spinocerebellar atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16617258606830
HP:0001272HP:0006855Cerebellar vermis atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16617258606830
HP:0001272HP:0100275Diffuse cerebellar atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16617258606830
HP:0001272HP:0006879Pontocerebellar atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM112520609600859
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM112520609600859
HP:0001272HP:0012080Cerebellar granular layer atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM112520609600859
HP:0001272HP:0007263Spinocerebellar atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM112520609600859
HP:0001272HP:0008278Cerebellar cortical atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM112520609600859
HP:0001272HP:0006855Cerebellar vermis atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM112520609600859
HP:0001272HP:0100275Diffuse cerebellar atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM112520609600859
HP:0001272HP:0007263Spinocerebellar atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001272HP:0008278Cerebellar cortical atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001272HP:0100275Diffuse cerebellar atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001272HP:0006855Cerebellar vermis atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001272HP:0006879Pontocerebellar atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001272HP:0012080Cerebellar granular layer atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM117923056608750
HP:0001272HP:0012080Cerebellar granular layer atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM123615672606941
HP:0001272HP:0007263Spinocerebellar atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM123615672606941
HP:0001272HP:0008278Cerebellar cortical atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM123615672606941
HP:0001272HP:0100275Diffuse cerebellar atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM123615672606941
HP:0001272HP:0006855Cerebellar vermis atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM123615672606941
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM123615672606941
HP:0001272HP:0006879Pontocerebellar atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM123615672606941
HP:0001272HP:0006855Cerebellar vermis atrophy1ANO10 CL E G H55129284289ORPHA124025519613726
HP:0001272HP:0100275Diffuse cerebellar atrophy1ANO10 CL E G H55129284289ORPHA124025519613726
HP:0001272HP:0006879Pontocerebellar atrophy1ANO10 CL E G H55129284289ORPHA124025519613726
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ANO10 CL E G H55129284289ORPHA124025519613726
HP:0001272HP:0012080Cerebellar granular layer atrophy1ANO10 CL E G H55129284289ORPHA124025519613726
HP:0001272HP:0008278Cerebellar cortical atrophy1ANO10 CL E G H55129284289ORPHA124025519613726
HP:0001272HP:0007263Spinocerebellar atrophy1ANO10 CL E G H55129284289ORPHA124025519613726
HP:0001272HP:0012080Cerebellar granular layer atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM124025519613726
HP:0001272HP:0007263Spinocerebellar atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM124025519613726
HP:0001272HP:0008278Cerebellar cortical atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM124025519613726
HP:0001272HP:0100275Diffuse cerebellar atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM124025519613726
HP:0001272HP:0006855Cerebellar vermis atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM124025519613726
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM124025519613726
HP:0001272HP:0006879Pontocerebellar atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM124025519613726
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4B1 CL E G H10717280763ORPHA1300572607245
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4B1 CL E G H10717280763ORPHA1300572607245
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4B1 CL E G H10717280763ORPHA1300572607245
HP:0001272HP:0006879Pontocerebellar atrophy1AP4B1 CL E G H10717280763ORPHA1300572607245
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4B1 CL E G H10717280763ORPHA1300572607245
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4B1 CL E G H10717280763ORPHA1300572607245
HP:0001272HP:0007263Spinocerebellar atrophy1AP4B1 CL E G H10717280763ORPHA1300572607245
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4E1 CL E G H23431280763ORPHA1377573607244
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4E1 CL E G H23431280763ORPHA1377573607244
HP:0001272HP:0006879Pontocerebellar atrophy1AP4E1 CL E G H23431280763ORPHA1377573607244
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4E1 CL E G H23431280763ORPHA1377573607244
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4E1 CL E G H23431280763ORPHA1377573607244
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4E1 CL E G H23431280763ORPHA1377573607244
HP:0001272HP:0007263Spinocerebellar atrophy1AP4E1 CL E G H23431280763ORPHA1377573607244
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001272HP:0007263Spinocerebellar atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001272HP:0006879Pontocerebellar atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1377573607244
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4M1 CL E G H9179280763ORPHA1311574602296
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4M1 CL E G H9179280763ORPHA1311574602296
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4M1 CL E G H9179280763ORPHA1311574602296
HP:0001272HP:0006879Pontocerebellar atrophy1AP4M1 CL E G H9179280763ORPHA1311574602296
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4M1 CL E G H9179280763ORPHA1311574602296
HP:0001272HP:0007263Spinocerebellar atrophy1AP4M1 CL E G H9179280763ORPHA1311574602296
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4M1 CL E G H9179280763ORPHA1311574602296
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001272HP:0007263Spinocerebellar atrophy1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001272HP:0006879Pontocerebellar atrophy1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1311574602296
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4S1 CL E G H11154280763ORPHA1122575607243
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4S1 CL E G H11154280763ORPHA1122575607243
HP:0001272HP:0006879Pontocerebellar atrophy1AP4S1 CL E G H11154280763ORPHA1122575607243
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4S1 CL E G H11154280763ORPHA1122575607243
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4S1 CL E G H11154280763ORPHA1122575607243
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4S1 CL E G H11154280763ORPHA1122575607243
HP:0001272HP:0007263Spinocerebellar atrophy1AP4S1 CL E G H11154280763ORPHA1122575607243
HP:0001272HP:0008278Cerebellar cortical atrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001272HP:0007263Spinocerebellar atrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001272HP:0006855Cerebellar vermis atrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001272HP:0100275Diffuse cerebellar atrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001272HP:0006879Pontocerebellar atrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001272HP:0012080Cerebellar granular layer atrophy1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM128815984606350
HP:0001272HP:0006879Pontocerebellar atrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0001272HP:0008278Cerebellar cortical atrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0001272HP:0007263Spinocerebellar atrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0001272HP:0006855Cerebellar vermis atrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM129225567612316
HP:0001272HP:0008278Cerebellar cortical atrophy1ATP13A2 CL E G H23400513436ORPHA173830213610513
HP:0001272HP:0007263Spinocerebellar atrophy1ATP13A2 CL E G H23400513436ORPHA173830213610513
HP:0001272HP:0006855Cerebellar vermis atrophy1ATP13A2 CL E G H23400513436ORPHA173830213610513
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATP13A2 CL E G H23400513436ORPHA173830213610513
HP:0001272HP:0006879Pontocerebellar atrophy1ATP13A2 CL E G H23400513436ORPHA173830213610513
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATP13A2 CL E G H23400513436ORPHA173830213610513
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATP13A2 CL E G H23400513436ORPHA173830213610513
HP:0001272HP:0006879Pontocerebellar atrophy1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM173830213610513
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM173830213610513
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM173830213610513
HP:0001272HP:0007263Spinocerebellar atrophy1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM173830213610513
HP:0001272HP:0008278Cerebellar cortical atrophy1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM173830213610513
HP:0001272HP:0006855Cerebellar vermis atrophy1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM173830213610513
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM173830213610513
HP:0001272HP:0008278Cerebellar cortical atrophy1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0001272HP:0007263Spinocerebellar atrophy1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0001272HP:0006855Cerebellar vermis atrophy1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0001272HP:0006879Pontocerebellar atrophy1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1301816300014
HP:0001272HP:0008278Cerebellar cortical atrophy1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001272HP:0007263Spinocerebellar atrophy1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001272HP:0006855Cerebellar vermis atrophy1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001272HP:0006879Pontocerebellar atrophy1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM130318305300556
HP:0001272HP:0006879Pontocerebellar atrophy1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1123851607027
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1123851607027
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1123851607027
HP:0001272HP:0008278Cerebellar cortical atrophy1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1123851607027
HP:0001272HP:0007263Spinocerebellar atrophy1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1123851607027
HP:0001272HP:0006855Cerebellar vermis atrophy1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1123851607027
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1123851607027
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM127113533605870
HP:0001272HP:0008278Cerebellar cortical atrophy1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM127113533605870
HP:0001272HP:0007263Spinocerebellar atrophy1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM127113533605870
HP:0001272HP:0006855Cerebellar vermis atrophy1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM127113533605870
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM127113533605870
HP:0001272HP:0006879Pontocerebellar atrophy1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM127113533605870
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM127113533605870
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN1 CL E G H631098755ORPHA18610548601556
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN10 CL E G H2581498761ORPHA110810549611150
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110810549611150
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN3 CL E G H4287276244ORPHA1467106607047
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN3 CL E G H4287276238ORPHA1467106607047
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN3 CL E G H4287276244ORPHA1467106607047
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN3 CL E G H4287276238ORPHA1467106607047
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN3 CL E G H4287276241ORPHA1467106607047
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN3 CL E G H4287276241ORPHA1467106607047
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN3 CL E G H4287276244ORPHA1467106607047
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN3 CL E G H4287276238ORPHA1467106607047
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN3 CL E G H4287276244ORPHA1467106607047
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN3 CL E G H4287276238ORPHA1467106607047
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN3 CL E G H4287276241ORPHA1467106607047
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN3 CL E G H4287276241ORPHA1467106607047
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN3 CL E G H4287276244ORPHA1467106607047
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN3 CL E G H4287276238ORPHA1467106607047
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN3 CL E G H4287276241ORPHA1467106607047
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN3 CL E G H4287276244ORPHA1467106607047
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN3 CL E G H4287276238ORPHA1467106607047
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN3 CL E G H4287276244ORPHA1467106607047
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN3 CL E G H4287276238ORPHA1467106607047
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN3 CL E G H4287276241ORPHA1467106607047
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN3 CL E G H4287276241ORPHA1467106607047
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1467106607047
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN7 CL E G H631494147ORPHA14210560607640
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN8 CL E G H72406698760ORPHA1232925613289
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN8 CL E G H724066608768Spinocerebellar ataxia 8608768C1837454OMIM1232925613289
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN8OS CL E G H631598760ORPHA17910561603680
HP:0001272HP:0012080Cerebellar granular layer atrophy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0001272HP:0008278Cerebellar cortical atrophy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0001272HP:0100275Diffuse cerebellar atrophy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0001272HP:0006879Pontocerebellar atrophy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17910561603680
HP:0001272HP:0008278Cerebellar cortical atrophy1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130816695300398
HP:0001272HP:0007263Spinocerebellar atrophy1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130816695300398
HP:0001272HP:0006855Cerebellar vermis atrophy1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130816695300398
HP:0001272HP:0100275Diffuse cerebellar atrophy1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130816695300398
HP:0001272HP:0006879Pontocerebellar atrophy1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130816695300398
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130816695300398
HP:0001272HP:0012080Cerebellar granular layer atrophy1BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130816695300398
HP:0001272HP:0007263Spinocerebellar atrophy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001272HP:0008278Cerebellar cortical atrophy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001272HP:0100275Diffuse cerebellar atrophy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001272HP:0006855Cerebellar vermis atrophy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001272HP:0006879Pontocerebellar atrophy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001272HP:0012080Cerebellar granular layer atrophy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM13341020603647
HP:0001272HP:0006855Cerebellar vermis atrophy1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001272HP:0100275Diffuse cerebellar atrophy1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001272HP:0006879Pontocerebellar atrophy1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001272HP:0012080Cerebellar granular layer atrophy1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001272HP:0008278Cerebellar cortical atrophy1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001272HP:0007263Spinocerebellar atrophy1BEAN1 CL E G H146227217012ORPHA13524160612051
HP:0001272HP:0008278Cerebellar cortical atrophy1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0001272HP:0007263Spinocerebellar atrophy1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0001272HP:0006855Cerebellar vermis atrophy1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0001272HP:0100275Diffuse cerebellar atrophy1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0001272HP:0006879Pontocerebellar atrophy1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0001272HP:0012080Cerebellar granular layer atrophy1BEAN1 CL E G H146227117210Spinocerebellar ataxia 31117210C1861736OMIM13524160612051
HP:0001272HP:0006879Pontocerebellar atrophy1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001272HP:0012080Cerebellar granular layer atrophy1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001272HP:0008278Cerebellar cortical atrophy1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001272HP:0007263Spinocerebellar atrophy1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001272HP:0006855Cerebellar vermis atrophy1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001272HP:0100275Diffuse cerebellar atrophy1BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM196021701614506
HP:0001272HP:0008278Cerebellar cortical atrophy1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM126891388601011
HP:0001272HP:0007263Spinocerebellar atrophy1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM126891388601011
HP:0001272HP:0006855Cerebellar vermis atrophy1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM126891388601011
HP:0001272HP:0100275Diffuse cerebellar atrophy1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM126891388601011
HP:0001272HP:0006879Pontocerebellar atrophy1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM126891388601011
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM126891388601011
HP:0001272HP:0012080Cerebellar granular layer atrophy1CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM126891388601011
HP:0001272HP:0007263Spinocerebellar atrophy1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0001272HP:0008278Cerebellar cortical atrophy1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0001272HP:0100275Diffuse cerebellar atrophy1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0001272HP:0006855Cerebellar vermis atrophy1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0001272HP:0006879Pontocerebellar atrophy1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0001272HP:0012080Cerebellar granular layer atrophy1CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM126891388601011
HP:0001272HP:0008278Cerebellar cortical atrophy1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0001272HP:0007263Spinocerebellar atrophy1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0001272HP:0006855Cerebellar vermis atrophy1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0001272HP:0100275Diffuse cerebellar atrophy1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0001272HP:0006879Pontocerebellar atrophy1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0001272HP:0012080Cerebellar granular layer atrophy1CACNA1G CL E G H8913458803ORPHA14451394604065
HP:0001272HP:0012080Cerebellar granular layer atrophy1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0001272HP:0008278Cerebellar cortical atrophy1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0001272HP:0007263Spinocerebellar atrophy1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0001272HP:0006855Cerebellar vermis atrophy1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0001272HP:0100275Diffuse cerebellar atrophy1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0001272HP:0006879Pontocerebellar atrophy1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM14451394604065
HP:0001272HP:0006879Pontocerebellar atrophy1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001272HP:0012080Cerebellar granular layer atrophy1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001272HP:0008278Cerebellar cortical atrophy1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001272HP:0007263Spinocerebellar atrophy1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001272HP:0006855Cerebellar vermis atrophy1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001272HP:0100275Diffuse cerebellar atrophy1CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM152825523609736
HP:0001272HP:0008278Cerebellar cortical atrophy1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM111026877616174
HP:0001272HP:0007263Spinocerebellar atrophy1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM111026877616174
HP:0001272HP:0006855Cerebellar vermis atrophy1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM111026877616174
HP:0001272HP:0100275Diffuse cerebellar atrophy1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM111026877616174
HP:0001272HP:0006879Pontocerebellar atrophy1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM111026877616174
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM111026877616174
HP:0001272HP:0012080Cerebellar granular layer atrophy1CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM111026877616174
HP:0001272HP:0008278Cerebellar cortical atrophy1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0001272HP:0007263Spinocerebellar atrophy1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0001272HP:0100275Diffuse cerebellar atrophy1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0001272HP:0006855Cerebellar vermis atrophy1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0001272HP:0006879Pontocerebellar atrophy1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0001272HP:0012080Cerebellar granular layer atrophy1CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM15412079607837
HP:0001272HP:0012080Cerebellar granular layer atrophy1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0001272HP:0008278Cerebellar cortical atrophy1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0001272HP:0007263Spinocerebellar atrophy1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0001272HP:0006855Cerebellar vermis atrophy1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0001272HP:0100275Diffuse cerebellar atrophy1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0001272HP:0006879Pontocerebellar atrophy1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM15412079607837
HP:0001272HP:0012080Cerebellar granular layer atrophy1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001272HP:0008278Cerebellar cortical atrophy1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001272HP:0007263Spinocerebellar atrophy1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001272HP:0006855Cerebellar vermis atrophy1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001272HP:0100275Diffuse cerebellar atrophy1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001272HP:0006879Pontocerebellar atrophy1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM145330664616254
HP:0001272HP:0006879Pontocerebellar atrophy1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001272HP:0012080Cerebellar granular layer atrophy1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001272HP:0008278Cerebellar cortical atrophy1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001272HP:0007263Spinocerebellar atrophy1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001272HP:0006855Cerebellar vermis atrophy1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001272HP:0100275Diffuse cerebellar atrophy1CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12678011602346
HP:0001272HP:0012080Cerebellar granular layer atrophy1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001272HP:0008278Cerebellar cortical atrophy1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001272HP:0007263Spinocerebellar atrophy1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001272HP:0100275Diffuse cerebellar atrophy1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001272HP:0006855Cerebellar vermis atrophy1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001272HP:0006879Pontocerebellar atrophy1CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12678011602346
HP:0001272HP:0012080Cerebellar granular layer atrophy1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0001272HP:0008278Cerebellar cortical atrophy1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0001272HP:0007263Spinocerebellar atrophy1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0001272HP:0006855Cerebellar vermis atrophy1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0001272HP:0100275Diffuse cerebellar atrophy1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0001272HP:0006879Pontocerebellar atrophy1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12796545606973
HP:0001272HP:0012080Cerebellar granular layer atrophy1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM159914857606821
HP:0001272HP:0008278Cerebellar cortical atrophy1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM159914857606821
HP:0001272HP:0007263Spinocerebellar atrophy1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM159914857606821
HP:0001272HP:0006855Cerebellar vermis atrophy1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM159914857606821
HP:0001272HP:0100275Diffuse cerebellar atrophy1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM159914857606821
HP:0001272HP:0006879Pontocerebellar atrophy1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM159914857606821
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM159914857606821
HP:0001272HP:0012080Cerebellar granular layer atrophy1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0001272HP:0008278Cerebellar cortical atrophy1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0001272HP:0007263Spinocerebellar atrophy1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0001272HP:0006855Cerebellar vermis atrophy1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0001272HP:0100275Diffuse cerebellar atrophy1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0001272HP:0006879Pontocerebellar atrophy1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM129618622606978
HP:0001272HP:0012080Cerebellar granular layer atrophy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM119118623606979
HP:0001272HP:0008278Cerebellar cortical atrophy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM119118623606979
HP:0001272HP:0007263Spinocerebellar atrophy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM119118623606979
HP:0001272HP:0006855Cerebellar vermis atrophy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM119118623606979
HP:0001272HP:0100275Diffuse cerebellar atrophy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM119118623606979
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM119118623606979
HP:0001272HP:0006879Pontocerebellar atrophy1COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM119118623606979
HP:0001272HP:0008278Cerebellar cortical atrophy1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM120792195120328
HP:0001272HP:0007263Spinocerebellar atrophy1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM120792195120328
HP:0001272HP:0006855Cerebellar vermis atrophy1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM120792195120328
HP:0001272HP:0100275Diffuse cerebellar atrophy1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM120792195120328
HP:0001272HP:0006879Pontocerebellar atrophy1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM120792195120328
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM120792195120328
HP:0001272HP:0012080Cerebellar granular layer atrophy1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM120792195120328
HP:0001272HP:0008278Cerebellar cortical atrophy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0001272HP:0007263Spinocerebellar atrophy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0001272HP:0006855Cerebellar vermis atrophy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0001272HP:0100275Diffuse cerebellar atrophy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0001272HP:0006879Pontocerebellar atrophy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0001272HP:0012080Cerebellar granular layer atrophy1COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM112582202120130
HP:0001272HP:0012080Cerebellar granular layer atrophy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM120525223609825
HP:0001272HP:0007263Spinocerebellar atrophy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM120525223609825
HP:0001272HP:0008278Cerebellar cortical atrophy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM120525223609825
HP:0001272HP:0100275Diffuse cerebellar atrophy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM120525223609825
HP:0001272HP:0006855Cerebellar vermis atrophy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM120525223609825
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM120525223609825
HP:0001272HP:0006879Pontocerebellar atrophy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM120525223609825
HP:0001272HP:0006855Cerebellar vermis atrophy1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0001272HP:0100275Diffuse cerebellar atrophy1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0001272HP:0006879Pontocerebellar atrophy1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0001272HP:0012080Cerebellar granular layer atrophy1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0001272HP:0008278Cerebellar cortical atrophy1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0001272HP:0007263Spinocerebellar atrophy1COQ8A CL E G H56997139485ORPHA150416812606980
HP:0001272HP:0012080Cerebellar granular layer atrophy1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM150416812606980
HP:0001272HP:0008278Cerebellar cortical atrophy1COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM150416812606980
HP:0001272HP:0007263Spinocerebellar atrophy1COQ8A CL E</