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 cataract612674C2675204OMIM131415868613599
HP:0001272HP:0001272Cerebellar atrophy0ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001272HP:0001272Cerebellar atrophy0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0001272HP:0001272Cerebellar atrophy0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0001272HP:0001272Cerebellar atrophy0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001272HP:0001272Cerebellar atrophy0ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
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 deficiency103050C0268126OMIM1368291608222
HP:0001272HP:0001272Cerebellar atrophy0ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0001272HP:0001272Cerebellar atrophy0AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0001272HP:0001272Cerebellar atrophy0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0001272HP:0001272Cerebellar atrophy0AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0001272HP:0001272Cerebellar atrophy0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001272HP:0001272Cerebellar atrophy0ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001272HP:0001272Cerebellar atrophy0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001272HP:0001272Cerebellar atrophy0ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001272HP:0001272Cerebellar atrophy0ANO10 CL E G H55129284289ORPHA121425519613726
HP:0001272HP:0001272Cerebellar atrophy0ANO10 CL E G H55129284289ORPHA122225519613726
HP:0001272HP:0001272Cerebellar atrophy0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0001272HP:0001272Cerebellar atrophy0ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0001272HP:0001272Cerebellar atrophy0AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001272HP:0001272Cerebellar atrophy0AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001272HP:0001272Cerebellar atrophy0AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001272HP:0001272Cerebellar atrophy0AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001272HP:0001272Cerebellar atrophy0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001272HP:0001272Cerebellar atrophy0AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001272HP:0001272Cerebellar atrophy0AP4M1 CL E G H9179280763ORPHA1199574602296
HP:0001272HP:0001272Cerebellar atrophy0AP4M1 CL E G H9179280763ORPHA1264574602296
HP:0001272HP:0001272Cerebellar atrophy0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1199574602296
HP:0001272HP:0001272Cerebellar atrophy0AP4M1 CL E G H9179612936Spastic paraplegia 50, autosomal recessive612936C2752008OMIM1264574602296
HP:0001272HP:0001272Cerebellar atrophy0AP4S1 CL E G H11154280763ORPHA189575607243
HP:0001272HP:0001272Cerebellar atrophy0AP4S1 CL E G H11154280763ORPHA1110575607243
HP:0001272HP:0001272Cerebellar atrophy0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM123615984606350
HP:0001272HP:0001272Cerebellar atrophy0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM125815984606350
HP:0001272HP:0001272Cerebellar atrophy0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM125025567612316
HP:0001272HP:0001272Cerebellar atrophy0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM126425567612316
HP:0001272HP:0001272Cerebellar atrophy0ATP13A2 CL E G H23400513436ORPHA148730213610513
HP:0001272HP:0001272Cerebellar atrophy0ATP13A2 CL E G H23400513436ORPHA160930213610513
HP:0001272HP:0001272Cerebellar atrophy0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM148730213610513
HP:0001272HP:0001272Cerebellar atrophy0ATP13A2 CL E G H23400617225Spastic paraplegia 78, autosomal recessive617225C4310662OMIM160930213610513
HP:0001272HP:0001272Cerebellar atrophy0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1292816300014
HP:0001272HP:0001272Cerebellar atrophy0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM1300816300014
HP:0001272HP:0001272Cerebellar atrophy0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM126318305300556
HP:0001272HP:0001272Cerebellar atrophy0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM128618305300556
HP:0001272HP:0001272Cerebellar atrophy0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM179851607027
HP:0001272HP:0001272Cerebellar atrophy0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM193851607027
HP:0001272HP:0001272Cerebellar atrophy0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM112613533605870
HP:0001272HP:0001272Cerebellar atrophy0ATP8A2 CL E G H51761615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268C3808977OMIM119313533605870
HP:0001272HP:0001272Cerebellar atrophy0ATXN1 CL E G H631098755ORPHA17610548601556
HP:0001272HP:0001272Cerebellar atrophy0ATXN1 CL E G H631098755ORPHA17810548601556
HP:0001272HP:0001272Cerebellar atrophy0ATXN10 CL E G H2581498761ORPHA19910549611150
HP:0001272HP:0001272Cerebellar atrophy0ATXN10 CL E G H2581498761ORPHA110110549611150
HP:0001272HP:0001272Cerebellar atrophy0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM19910549611150
HP:0001272HP:0001272Cerebellar atrophy0ATXN10 CL E G H25814603516Spinocerebellar ataxia 10603516C1963674OMIM110110549611150
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H4287276238ORPHA1447106607047
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H4287276241ORPHA1447106607047
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H4287276244ORPHA1447106607047
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H4287109150Azorean disease109150C0024408OMIM1447106607047
HP:0001272HP:0001272Cerebellar atrophy0ATXN7 CL E G H631494147ORPHA13710560607640
HP:0001272HP:0001272Cerebellar atrophy0ATXN7 CL E G H631494147ORPHA13910560607640
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 H631598760ORPHA17210561603680
HP:0001272HP:0001272Cerebellar atrophy0ATXN8OS CL E G H631598760ORPHA17610561603680
HP:0001272HP:0001272Cerebellar atrophy0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17210561603680
HP:0001272HP:0001272Cerebellar atrophy0ATXN8OS CL E G H6315608768Spinocerebellar ataxia 8608768C1837454OMIM17610561603680
HP:0001272HP:0001272Cerebellar atrophy0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM128216695300398
HP:0001272HP:0001272Cerebellar atrophy0BCAP31 CL E G H10134300475Chromosome Xq28 deletion syndrome300475C1845408OMIM130116695300398
HP:0001272HP:0001272Cerebellar atrophy0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12491020603647
HP:0001272HP:0001272Cerebellar atrophy0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM12791020603647
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 SEIZURES618056CN252657OMIM172521701614506
HP:0001272HP:0001272Cerebellar atrophy0BRAT1 CL E G H221927618056NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES618056CN252657OMIM184721701614506
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM120471388601011
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM123261388601011
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM120471388601011
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H773183086Spinocerebellar ataxia 6183086C0752124OMIM123261388601011
HP:0001272HP:0001272Cerebellar atrophy0CACNA1G CL E G H8913458803ORPHA13571394604065
HP:0001272HP:0001272Cerebellar atrophy0CACNA1G CL E G H8913458803ORPHA13741394604065
HP:0001272HP:0001272Cerebellar atrophy0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM13571394604065
HP:0001272HP:0001272Cerebellar atrophy0CACNA1G CL E G H8913616795Spinocerebellar ataxia 42616795C4225205OMIM13741394604065
HP:0001272HP:0001272Cerebellar atrophy0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM16725523609736
HP:0001272HP:0001272Cerebellar atrophy0CCDC88A CL E G H55704617507PEHO-like syndrome617507C1850056OMIM132225523609736
HP:0001272HP:0001272Cerebellar atrophy0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM17826877616174
HP:0001272HP:0001272Cerebellar atrophy0CKAP2L CL E G H150468272440Filippi syndrome272440C0795940OMIM19426877616174
HP:0001272HP:0001272Cerebellar atrophy0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM14312079607837
HP:0001272HP:0001272Cerebellar atrophy0CLN8 CL E G H2055600143Ceroid lipofuscinosis neuronal 8600143C1838570OMIM14832079607837
HP:0001272HP:0001272Cerebellar atrophy0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM14312079607837
HP:0001272HP:0001272Cerebellar atrophy0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM14832079607837
HP:0001272HP:0001272Cerebellar atrophy0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM133730664616254
HP:0001272HP:0001272Cerebellar atrophy0CLPB CL E G H815706162713-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia616271C4225393OMIM140430664616254
HP:0001272HP:0001272Cerebellar atrophy0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM11588011602346
HP:0001272HP:0001272Cerebellar atrophy0CNTNAP1 CL E G H8506618186Congenital hypomyelinating neuropathy 3618186OMIM12168011602346
HP:0001272HP:0001272Cerebellar atrophy0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM11588011602346
HP:0001272HP:0001272Cerebellar atrophy0CNTNAP1 CL E G H8506616286Lethal congenital contracture syndrome 7616286C4225386OMIM12168011602346
HP:0001272HP:0001272Cerebellar atrophy0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM11816545606973
HP:0001272HP:0001272Cerebellar atrophy0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12486545606973
HP:0001272HP:0001272Cerebellar atrophy0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM131114857606821
HP:0001272HP:0001272Cerebellar atrophy0COG5 CL E G H10466613612Congenital disorder of glycosylation type 2i613612C3150876OMIM149014857606821
HP:0001272HP:0001272Cerebellar atrophy0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM121118622606978
HP:0001272HP:0001272Cerebellar atrophy0COG7 CL E G H91949608779COG7 congenital disorder of glycosylation608779C2931010OMIM125418622606978
HP:0001272HP:0001272Cerebellar atrophy0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM115618623606979
HP:0001272HP:0001272Cerebellar atrophy0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM117718623606979
HP:0001272HP:0001272Cerebellar atrophy0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM17612195120328
HP:0001272HP:0001272Cerebellar atrophy0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM114972195120328
HP:0001272HP:0001272Cerebellar atrophy0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM18372202120130
HP:0001272HP:0001272Cerebellar atrophy0COL4A1 CL E G H1282175780Porencephaly 1175780CN032791OMIM110102202120130
HP:0001272HP:0001272Cerebellar atrophy0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0001272HP:0001272Cerebellar atrophy0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0001272HP:0001272Cerebellar atrophy0COQ8A CL E G H56997139485ORPHA136716812606980
HP:0001272HP:0001272Cerebellar atrophy0COQ8A CL E G H56997139485ORPHA143516812606980
HP:0001272HP:0001272Cerebellar atrophy0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM136716812606980
HP:0001272HP:0001272Cerebellar atrophy0COQ8A CL E G H56997612016Coenzyme Q10 deficiency, primary, 4612016C2677589OMIM143516812606980
HP:0001272HP:0001272Cerebellar atrophy0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM112725302612837
HP:0001272HP:0001272Cerebellar atrophy0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM116425302612837
HP:0001272HP:0001272Cerebellar atrophy0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM1652342600184
HP:0001272HP:0001272Cerebellar atrophy0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM11032342600184
HP:0001272HP:0001272Cerebellar atrophy0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14132529116840
HP:0001272HP:0001272Cerebellar atrophy0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM14652529116840
HP:0001272HP:0001272Cerebellar atrophy0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11292531603539
HP:0001272HP:0001272Cerebellar atrophy0CTSF CL E G H8722615362Ceroid lipofuscinosis, neuronal, 13615362C3715049OMIM11402531603539
HP:0001272HP:0001272Cerebellar atrophy0CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM18413760606323
HP:0001272HP:0001272Cerebellar atrophy0CYFIP2 CL E G H26999618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65618008CN248516OMIM117513760606323
HP:0001272HP:0001272Cerebellar atrophy0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM14392605606530
HP:0001272HP:0001272Cerebellar atrophy0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM15992605606530
HP:0001272HP:0001272Cerebellar atrophy0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1802661603448
HP:0001272HP:0001272Cerebellar atrophy0DAB1 CL E G H1600615945Spinocerebellar ataxia 37615945C3889636OMIM1812661603448
HP:0001272HP:0001272Cerebellar atrophy0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM14916716616423
HP:0001272HP:0001272Cerebellar atrophy0DHX30 CL E G H22907617804NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE617804C4540496OMIM15816716616423
HP:0001272HP:0001272Cerebellar atrophy0DNAJC3 CL E G H5611445062ORPHA1869439601184
HP:0001272HP:0001272Cerebellar atrophy0DNAJC3 CL E G H5611445062ORPHA1909439601184
HP:0001272HP:0001272Cerebellar atrophy0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1869439601184
HP:0001272HP:0001272Cerebellar atrophy0DNAJC3 CL E G H5611616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus616192C4015436OMIM1909439601184
HP:0001272HP:0001272Cerebellar atrophy0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM17492976126375
HP:0001272HP:0001272Cerebellar atrophy0DNMT1 CL E G H1786604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant604121C1858804OMIM18322976126375
HP:0001272HP:0001272Cerebellar atrophy0EEF2 CL E G H1938101112ORPHA11703214130610
HP:0001272HP:0001272Cerebellar atrophy0EEF2 CL E G H1938101112ORPHA11743214130610
HP:0001272HP:0001272Cerebellar atrophy0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11703214130610
HP:0001272HP:0001272Cerebellar atrophy0EEF2 CL E G H1938609306Spinocerebellar ataxia 26609306C1836395OMIM11743214130610
HP:0001272HP:0001272Cerebellar atrophy0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM117814415605512
HP:0001272HP:0001272Cerebellar atrophy0ELOVL4 CL E G H6785133190Erythrokeratodermia with ataxia133190C1851481OMIM121314415605512
HP:0001272HP:0001272Cerebellar atrophy0ELOVL5 CL E G H60481423296ORPHA14921308611805
HP:0001272HP:0001272Cerebellar atrophy0ELOVL5 CL E G H60481423296ORPHA15221308611805
HP:0001272HP:0001272Cerebellar atrophy0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM14921308611805
HP:0001272HP:0001272Cerebellar atrophy0ELOVL5 CL E G H60481615957Spinocerebellar ataxia 38615957C4014812OMIM15221308611805
HP:0001272HP:0001272Cerebellar atrophy0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM11863435133510
HP:0001272HP:0001272Cerebellar atrophy0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM12833435133510
HP:0001272HP:0001272Cerebellar atrophy0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM18253438609413
HP:0001272HP:0001272Cerebellar atrophy0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM19463438609413
HP:0001272HP:0001272Cerebellar atrophy0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM111517097602238
HP:0001272HP:0001272Cerebellar atrophy0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM115717097602238
HP:0001272HP:0001272Cerebellar atrophy0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM116117944606489
HP:0001272HP:0001272Cerebellar atrophy0EXOSC3 CL E G H51010614678Pontocerebellar hypoplasia, type 1b614678C3553449OMIM117517944606489
HP:0001272HP:0001272Cerebellar atrophy0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM1489137606180
HP:0001272HP:0001272Cerebellar atrophy0EXOSC9 CL E G H5393618065PONTOCEREBELLAR HYPOPLASIA, TYPE 1D618065CN252648OMIM11089137606180
HP:0001272HP:0001272Cerebellar atrophy0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM124121197611026
HP:0001272HP:0001272Cerebellar atrophy0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM127521197611026
HP:0001272HP:0001272Cerebellar atrophy0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM136121062611592
HP:0001272HP:0001272Cerebellar atrophy0FARS2 CL E G H10667614946Combined oxidative phosphorylation deficiency 14614946C3554168OMIM142921062611592
HP:0001272HP:0001272Cerebellar atrophy0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11693596604269
HP:0001272HP:0001272Cerebellar atrophy0FAT2 CL E G H2196617769SPINOCEREBELLAR ATAXIA 45617769C4540400OMIM11743596604269
HP:0001272HP:0001272Cerebellar atrophy0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11273668601513
HP:0001272HP:0001272Cerebellar atrophy0FGF12 CL E G H2257617166Epileptic encephalopathy, early infantile, 47617166C4310685OMIM11633668601513
HP:0001272HP:0001272Cerebellar atrophy0FKRP CL E G H79147370980ORPHA157217997606596
HP:0001272HP:0001272Cerebellar atrophy0FKRP CL E G H79147370980ORPHA167117997606596
HP:0001272HP:0001272Cerebellar atrophy0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM157217997606596
HP:0001272HP:0001272Cerebellar atrophy0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM167117997606596
HP:0001272HP:0001272Cerebellar atrophy0FKTN CL E G H2218370980ORPHA15993622607440
HP:0001272HP:0001272Cerebellar atrophy0FKTN CL E G H2218370980ORPHA16793622607440
HP:0001272HP:0001272Cerebellar atrophy0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13173775309550
HP:0001272HP:0001272Cerebellar atrophy0FMR1 CL E G H2332300623Fragile X tremor/ataxia syndrome300623C1839780OMIM13223775309550
HP:0001272HP:0001272Cerebellar atrophy0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0001272HP:0001272Cerebellar atrophy0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0001272HP:0001272Cerebellar atrophy0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM12571362604574
HP:0001272HP:0001272Cerebellar atrophy0FRRS1L CL E G H23732616981Epileptic encephalopathy, early infantile, 37616981C4310770OMIM13061362604574
HP:0001272HP:0001272Cerebellar atrophy0GBA2 CL E G H57704320391ORPHA124618986609471
HP:0001272HP:0001272Cerebellar atrophy0GBA2 CL E G H57704320391ORPHA126218986609471
HP:0001272HP:0001272Cerebellar atrophy0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM124618986609471
HP:0001272HP:0001272Cerebellar atrophy0GBA2 CL E G H57704614409Spastic paraplegia 46, autosomal recessive614409C2828721OMIM126218986609471
HP:0001272HP:0001272Cerebellar atrophy0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0001272HP:0001272Cerebellar atrophy0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0001272HP:0001272Cerebellar atrophy0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11444576602368
HP:0001272HP:0001272Cerebellar atrophy0GRID2 CL E G H2895616204Spinocerebellar ataxia, autosomal recessive 18616204C4015505OMIM11514576602368
HP:0001272HP:0001272Cerebellar atrophy0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11864593604473
HP:0001272HP:0001272Cerebellar atrophy0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM11934593604473
HP:0001272HP:0001272Cerebellar atrophy0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11864593604473
HP:0001272HP:0001272Cerebellar atrophy0GRM1 CL E G H2911614831Spinocerebellar ataxia, autosomal recessive 13614831C3553816OMIM11934593604473
HP:0001272HP:0001272Cerebellar atrophy0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM13024601138945
HP:0001272HP:0001272Cerebellar atrophy0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM13584601138945
HP:0001272HP:0001272Cerebellar atrophy0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1344670607434
HP:0001272HP:0001272Cerebellar atrophy0GTPBP2 CL E G H54676617988JABERI-ELAHI SYNDROME617988CN244943OMIM1504670607434
HP:0001272HP:0001272Cerebellar atrophy0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM120626361611642
HP:0001272HP:0001272Cerebellar atrophy0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM123126361611642
HP:0001272HP:0001272Cerebellar atrophy0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM11454851613004
HP:0001272HP:0001272Cerebellar atrophy0HTT CL E G H3064143100Huntington's chorea143100C0020179OMIM13934851613004
HP:0001272HP:0001272Cerebellar atrophy0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM11454851613004
HP:0001272HP:0001272Cerebellar atrophy0HTT CL E G H3064617435Lopes-Maciel-Rodan syndrome617435C4479491OMIM13934851613004
HP:0001272HP:0001272Cerebellar atrophy0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM110914282611720
HP:0001272HP:0001272Cerebellar atrophy0IRF2BPL CL E G H64207618088NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES618088CN252701OMIM111614282611720
HP:0001272HP:0001272Cerebellar atrophy0ISPD CL E G H729920370980ORPHA154537276614631
HP:0001272HP:0001272Cerebellar atrophy0ISPD CL E G H729920370980ORPHA154937276614631
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H370898769ORPHA18956180147265
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H370898769ORPHA19696180147265
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H3708208513ORPHA18956180147265
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H3708208513ORPHA19696180147265
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM18956180147265
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H3708606658Spinocerebellar ataxia 15606658C1847725OMIM19696180147265
HP:0001272HP:0001272Cerebellar atrophy0KCNC3 CL E G H374898768ORPHA11266235176264
HP:0001272HP:0001272Cerebellar atrophy0KCNC3 CL E G H374898768ORPHA11666235176264
HP:0001272HP:0001272Cerebellar atrophy0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11266235176264
HP:0001272HP:0001272Cerebellar atrophy0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM11666235176264
HP:0001272HP:0001272Cerebellar atrophy0KCND3 CL E G H375298772ORPHA12336239605411
HP:0001272HP:0001272Cerebellar atrophy0KCND3 CL E G H375298772ORPHA12666239605411
HP:0001272HP:0001272Cerebellar atrophy0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12336239605411
HP:0001272HP:0001272Cerebellar atrophy0KCND3 CL E G H3752607346Spinocerebellar ataxia 19607346C1846367OMIM12666239605411
HP:0001272HP:0001272Cerebellar atrophy0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM12896256602208
HP:0001272HP:0001272Cerebellar atrophy0KCNJ10 CL E G H3766612780SeSAME syndrome612780C2748572OMIM13196256602208
HP:0001272HP:0001272Cerebellar atrophy0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM16326284600150
HP:0001272HP:0001272Cerebellar atrophy0KCNMA1 CL E G H3778617643CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES617643C4539985OMIM17206284600150
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H5472836ORPHA11441888601255
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H5472836ORPHA11735888601255
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM11441888601255
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM11735888601255
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM11441888601255
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H547610357Spastic paraplegia 30, autosomal recessive610357C1835896OMIM11735888601255
HP:0001272HP:0001272Cerebellar atrophy0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM112420499609584
HP:0001272HP:0001272Cerebellar atrophy0L2HGDH CL E G H79944236792L-2-hydroxyglutaric aciduria236792C1855995OMIM116020499609584
HP:0001272HP:0001272Cerebellar atrophy0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM122826058300060
HP:0001272HP:0001272Cerebellar atrophy0LAGE3 CL E G H8270301006GALLOWAY-MOWAT SYNDROME 2, X-LINKED301006C4538784OMIM123526058300060
HP:0001272HP:0001272Cerebellar atrophy0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM17329569610284
HP:0001272HP:0001272Cerebellar atrophy0LIPT1 CL E G H51601616299Lipoyltransferase 1 deficiency616299C4225379OMIM19029569610284
HP:0001272HP:0001272Cerebellar atrophy0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM13921610610236
HP:0001272HP:0001272Cerebellar atrophy0LNPK CL E G H80856618090NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM618090CN252703OMIM14121610610236
HP:0001272HP:0001272Cerebellar atrophy0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11106783159460
HP:0001272HP:0001272Cerebellar atrophy0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM11466783159460
HP:0001272HP:0001272Cerebellar atrophy0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM16536826609458
HP:0001272HP:0001272Cerebellar atrophy0MAN2B1 CL E G H4125248500Deficiency of alpha-mannosidase248500C0024748OMIM17906826609458
HP:0001272HP:0001272Cerebellar atrophy0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM19525133609728
HP:0001272HP:0001272Cerebellar atrophy0MARS2 CL E G H92935611390Ataxia, spastic, 3, autosomal recessive611390C1969645OMIM110925133609728
HP:0001272HP:0001272Cerebellar atrophy0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM19525133609728
HP:0001272HP:0001272Cerebellar atrophy0MARS2 CL E G H92935616430Combined oxidative phosphorylation deficiency 25616430C4225329OMIM110925133609728
HP:0001272HP:0001272Cerebellar atrophy0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM141813356605248
HP:0001272HP:0001272Cerebellar atrophy0MCOLN1 CL E G H57192252650Mucolipidosis type IV252650C0238286OMIM144813356605248
HP:0001272HP:0001272Cerebellar atrophy0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM1906971154100
HP:0001272HP:0001272Cerebellar atrophy0MDH2 CL E G H4191617339Epileptic encephalopathy, early infantile, 51617339C4479208OMIM11696971154100
HP:0001272HP:0001272Cerebellar atrophy0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM110224858614785
HP:0001272HP:0001272Cerebellar atrophy0MFF CL E G H56947617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2617086C4310726OMIM111324858614785
HP:0001272HP:0001272Cerebellar atrophy0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM151828486611124
HP:0001272HP:0001272Cerebellar atrophy0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM159528486611124
HP:0001272HP:0001272Cerebellar atrophy0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM11967154120520
HP:0001272HP:0001272Cerebellar atrophy0MME CL E G H4311617018Spinocerebellar ataxia 43617018C4310763OMIM13427154120520
HP:0001272HP:0001272Cerebellar atrophy0MRE11 CL E G H4361251347ORPHA112587230600814
HP:0001272HP:0001272Cerebellar atrophy0MRE11 CL E G H4361251347ORPHA112597230600814
HP:0001272HP:0001272Cerebellar atrophy0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112587230600814
HP:0001272HP:0001272Cerebellar atrophy0MRE11 CL E G H4361604391Ataxia-telangiectasia-like disorder 1604391C1858391OMIM112597230600814
HP:0001272HP:0001272Cerebellar atrophy0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM13717530251170
HP:0001272HP:0001272Cerebellar atrophy0MVK CL E G H4598610377Mevalonic aciduria610377C1959626OMIM14017530251170
HP:0001272HP:0001272Cerebellar atrophy0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM14447573160720
HP:0001272HP:0001272Cerebellar atrophy0MYH3 CL E G H4621193700Freeman-Sheldon syndrome193700C0265224OMIM15337573160720
HP:0001272HP:0001272Cerebellar atrophy0NADK2 CL E G H133686431361ORPHA111326404615787
HP:0001272HP:0001272Cerebellar atrophy0NADK2 CL E G H133686431361ORPHA114326404615787
HP:0001272HP:0001272Cerebellar atrophy0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM116326274612803
HP:0001272HP:0001272Cerebellar atrophy0NARS2 CL E G H79731616239Combined oxidative phosphorylation deficiency 24616239C4015643OMIM118126274612803
HP:0001272HP:0001272Cerebellar atrophy0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11497693603834
HP:0001272HP:0001272Cerebellar atrophy0NDUFA9 CL E G H4704618247MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26618247OMIM11727693603834
HP:0001272HP:0001272Cerebellar atrophy0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM12637707157655
HP:0001272HP:0001272Cerebellar atrophy0NDUFS1 CL E G H4719618226MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5618226OMIM13017707157655
HP:0001272HP:0001272Cerebellar atrophy0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM1977711602694
HP:0001272HP:0001272Cerebellar atrophy0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11017711602694
HP:0001272HP:0001272Cerebellar atrophy0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM111919321605955
HP:0001272HP:0001272Cerebellar atrophy0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM115119321605955
HP:0001272HP:0001272Cerebellar atrophy0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM15988140605290
HP:0001272HP:0001272Cerebellar atrophy0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM17398140605290
HP:0001272HP:0001272Cerebellar atrophy0OPA3 CL E G H8020767036ORPHA13728142606580
HP:0001272HP:0001272Cerebellar atrophy0OPA3 CL E G H8020767036ORPHA14018142606580
HP:0001272HP:0001272Cerebellar atrophy0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM17818028610107
HP:0001272HP:0001272Cerebellar atrophy0OSGEP CL E G H55644617729GALLOWAY-MOWAT SYNDROME 3617729C4540266OMIM19518028610107
HP:0001272HP:0001272Cerebellar atrophy0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM117313406604918
HP:0001272HP:0001272Cerebellar atrophy0PCLO CL E G H27445608027Pontocerebellar hypoplasia type 3608027C1842687OMIM1110013406604918
HP:0001272HP:0001272Cerebellar atrophy0PCNA CL E G H5111615919Ataxia-telangiectasia-like disorder 2615919C4014676OMIM1408729176740
HP:0001272HP:0001272Cerebellar atrophy0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11448820131340
HP:0001272HP:0001272Cerebellar atrophy0PDYN CL E G H5173610245Spinocerebellar ataxia 23610245C1853250OMIM11598820131340
HP:0001272HP:0001272Cerebellar atrophy0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM14808851602859
HP:0001272HP:0001272Cerebellar atrophy0PEX10 CL E G H5192614871Peroxisome biogenesis disorder 6B614871C3553948OMIM15788851602859
HP:0001272HP:0001272Cerebellar atrophy0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM12549717170993
HP:0001272HP:0001272Cerebellar atrophy0PEX2 CL E G H5828614867Peroxisome biogenesis disorder 5B614867C3542026OMIM13199717170993
HP:0001272HP:0001272Cerebellar atrophy0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM111814938610272
HP:0001272HP:0001272Cerebellar atrophy0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM114214938610272
HP:0001272HP:0001272Cerebellar atrophy0PIK3R5 CL E G H23533615217Ataxia-oculomotor apraxia 3615217C3554690OMIM14830035611317
HP:0001272HP:0001272Cerebellar atrophy0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM14319039603604
HP:0001272HP:0001272Cerebellar atrophy0PLA2G6 CL E G H8398256600Infantile neuroaxonal dystrophy256600C0270724OMIM15139039603604
HP:0001272HP:0001272Cerebellar atrophy0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM14319039603604
HP:0001272HP:0001272Cerebellar atrophy0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM15139039603604
HP:0001272HP:0001272Cerebellar atrophy0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM11917158615698
HP:0001272HP:0001272Cerebellar atrophy0PLD3 CL E G H23646617770SPINOCEREBELLAR ATAXIA 46617770C4540404OMIM12017158615698
HP:0001272HP:0001272Cerebellar atrophy0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM121911397605031
HP:0001272HP:0001272Cerebellar atrophy0PLK4 CL E G H10733616171Microcephaly and chorioretinopathy, autosomal recessive, 2616171C4015388OMIM133911397605031
HP:0001272HP:0001272Cerebellar atrophy0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1459119603131
HP:0001272HP:0001272Cerebellar atrophy0PMPCB CL E G H9512617954MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6617954CN244567OMIM1539119603131
HP:0001272HP:0001272Cerebellar atrophy0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM16809154605610
HP:0001272HP:0001272Cerebellar atrophy0PNKP CL E G H11284616267Ataxia-oculomotor apraxia 4616267C4225397OMIM17699154605610
HP:0001272HP:0001272Cerebellar atrophy0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM114709179174763
HP:0001272HP:0001272Cerebellar atrophy0POLG CL E G H5428203700Progressive sclerosing poliodystrophy203700C0205710OMIM117129179174763
HP:0001272HP:0001272Cerebellar atrophy0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM148430074614258
HP:0001272HP:0001272Cerebellar atrophy0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM165430074614258
HP:0001272HP:0001272Cerebellar atrophy0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM129730348614366
HP:0001272HP:0001272Cerebellar atrophy0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM132630348614366
HP:0001272HP:0001272Cerebellar atrophy0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM129730348614366
HP:0001272HP:0001272Cerebellar atrophy0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM132630348614366
HP:0001272HP:0001272Cerebellar atrophy0POMT1 CL E G H10585370980ORPHA16099202607423
HP:0001272HP:0001272Cerebellar atrophy0POMT1 CL E G H10585370980ORPHA16869202607423
HP:0001272HP:0001272Cerebellar atrophy0PPP2R2B CL E G H552198762ORPHA1369305604325
HP:0001272HP:0001272Cerebellar atrophy0PPP2R2B CL E G H552198762ORPHA1389305604325
HP:0001272HP:0001272Cerebellar atrophy0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1369305604325
HP:0001272HP:0001272Cerebellar atrophy0PPP2R2B CL E G H5521604326Spinocerebellar ataxia 12604326C1858501OMIM1389305604325
HP:0001272HP:0001272Cerebellar atrophy0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12619402176980
HP:0001272HP:0001272Cerebellar atrophy0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM12719402176980
HP:0001272HP:0001272Cerebellar atrophy0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11319449176640
HP:0001272HP:0001272Cerebellar atrophy0PRNP CL E G H5621137440Gerstmann-Straussler-Scheinker syndrome137440C0017495OMIM11469449176640
HP:0001272HP:0001272Cerebellar atrophy0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM13413420617413
HP:0001272HP:0001272Cerebellar atrophy0PRUNE1 CL E G H58497617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies617481C4479566OMIM13513420617413
HP:0001272HP:0001272Cerebellar atrophy0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM13724265608625
HP:0001272HP:0001272Cerebellar atrophy0PTRH2 CL E G H51651616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset616263C4015728OMIM13924265608625
HP:0001272HP:0001272Cerebellar atrophy0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM140621406611524
HP:0001272HP:0001272Cerebellar atrophy0RARS2 CL E G H57038611523Pontocerebellar hypoplasia type 6611523C1969084OMIM144921406611524
HP:0001272HP:0001272Cerebellar atrophy0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM12615578614825
HP:0001272HP:0001272Cerebellar atrophy0REPS1 CL E G H85021617916NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7617916CN895590OMIM15015578614825
HP:0001272HP:0001272Cerebellar atrophy0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM18618466604123
HP:0001272HP:0001272Cerebellar atrophy0RNASEH1 CL E G H246243616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2616479C4225312OMIM19518466604123
HP:0001272HP:0001272Cerebellar atrophy0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM118618518606034
HP:0001272HP:0001272Cerebellar atrophy0RNASEH2A CL E G H10535610333Aicardi Goutieres syndrome 4610333C1835912OMIM125918518606034
HP:0001272HP:0001272Cerebellar atrophy0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM113421698609948
HP:0001272HP:0001272Cerebellar atrophy0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM117921698609948
HP:0001272HP:0001272Cerebellar atrophy0RNU12 CL E G H267010512260ORPHA112193800
HP:0001272HP:0001272Cerebellar atrophy0SACS CL E G H2627898ORPHA1191410519604490
HP:0001272HP:0001272Cerebellar atrophy0SACS CL E G H2627898ORPHA1208810519604490
HP:0001272HP:0001272Cerebellar atrophy0SAMD9L CL E G H2192852585ORPHA11381349611170
HP:0001272HP:0001272Cerebellar atrophy0SAMD9L CL E G H2192852585ORPHA12901349611170
HP:0001272HP:0001272Cerebellar atrophy0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM11381349611170
HP:0001272HP:0001272Cerebellar atrophy0SAMD9L CL E G H219285159550Myelocerebellar disorder159550C1327919OMIM12901349611170
HP:0001272HP:0001272Cerebellar atrophy0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM13281665602257
HP:0001272HP:0001272Cerebellar atrophy0SCARB2 CL E G H950254900Epilepsy, progressive myoclonic 4, with or without renal failure254900C0751779OMIM13761665602257
HP:0001272HP:0001272Cerebellar atrophy0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM16814372607982
HP:0001272HP:0001272Cerebellar atrophy0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM16914372607982
HP:0001272HP:0001272Cerebellar atrophy0SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM129230605613009
HP:0001272HP:0001272Cerebellar atrophy0SEPSECS CL E G H51091613811Pontocerebellar hypoplasia type 2D613811C3151140OMIM132930605613009
HP:0001272HP:0001272Cerebellar atrophy0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM124921061614725
HP:0001272HP:0001272Cerebellar atrophy0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM128321061614725
HP:0001272HP:0001272Cerebellar atrophy0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM110195603690
HP:0001272HP:0001272Cerebellar atrophy0SLC33A1 CL E G H9197614482Congenital cataracts, hearing loss, and neurodegeneration614482C3280965OMIM112695603690
HP:0001272HP:0001272Cerebellar atrophy0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM19320862608732
HP:0001272HP:0001272Cerebellar atrophy0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM19920862608732
HP:0001272HP:0001272Cerebellar atrophy0SLC9A6 CL E G H1047985278ORPHA144711079300231
HP:0001272HP:0001272Cerebellar atrophy0SLC9A6 CL E G H1047985278ORPHA148711079300231
HP:0001272HP:0001272Cerebellar atrophy0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM144711079300231
HP:0001272HP:0001272Cerebellar atrophy0SLC9A6 CL E G H10479300243Christianson syndrome300243C2678194OMIM148711079300231
HP:0001272HP:0001272Cerebellar atrophy0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM114614977616105
HP:0001272HP:0001272Cerebellar atrophy0SNX14 CL E G H57231616354Spinocerebellar ataxia, autosomal recessive 20616354C4225355OMIM115114977616105
HP:0001272HP:0001272Cerebellar atrophy0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM121518514607111
HP:0001272HP:0001272Cerebellar atrophy0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM124618514607111
HP:0001272HP:0001272Cerebellar atrophy0SPG7 CL E G H668799013ORPHA164811237602783
HP:0001272HP:0001272Cerebellar atrophy0SPG7 CL E G H668799013ORPHA172611237602783
HP:0001272HP:0001272Cerebellar atrophy0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM164811237602783
HP:0001272HP:0001272Cerebellar atrophy0SPG7 CL E G H6687607259Spastic paraplegia 7607259C1846564OMIM172611237602783
HP:0001272HP:0001272Cerebellar atrophy0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1134111273182810
HP:0001272HP:0001272Cerebellar atrophy0SPTAN1 CL E G H6709613477Early infantile epileptic encephalopathy 5613477C3150731OMIM1153211273182810
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H671298766ORPHA147811276604985
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H671298766ORPHA156911276604985
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H6712352403ORPHA147811276604985
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H6712352403ORPHA156911276604985
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM147811276604985
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H6712600224Spinocerebellar ataxia 5600224C0752123OMIM156911276604985
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM147811276604985
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H6712615386Spinocerebellar ataxia, autosomal recessive 14615386C3809327OMIM156911276604985
HP:0001272HP:0001272Cerebellar atrophy0STT3A CL E G H3703370921ORPHA11756172601134
HP:0001272HP:0001272Cerebellar atrophy0STT3A CL E G H3703370921ORPHA11936172601134
HP:0001272HP:0001272Cerebellar atrophy0STT3A CL E G H3703615596Congenital disorder of glycosylation type 1w615596C3810062OMIM11756172601134
HP:0001272HP:0001272Cerebellar atrophy0STT3A CL E G H3703615596Congenital disorder of glycosylation type 1w615596C3810062OMIM11936172601134
HP:0001272HP:0001272Cerebellar atrophy0STT3B CL E G H201595370924ORPHA111130611608605
HP:0001272HP:0001272Cerebellar atrophy0STT3B CL E G H201595370924ORPHA111630611608605
HP:0001272HP:0001272Cerebellar atrophy0STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM111130611608605
HP:0001272HP:0001272Cerebellar atrophy0STT3B CL E G H201595615597Congenital disorder of glycosylation type 1x615597C2931007OMIM111630611608605
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H10273412057ORPHA113811427607207
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H10273412057ORPHA114411427607207
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H10273618093SPINOCEREBELLAR ATAXIA 48618093OMIM113811427607207
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H10273618093SPINOCEREBELLAR ATAXIA 48618093OMIM114411427607207
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM113811427607207
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM114411427607207
HP:0001272HP:0001272Cerebellar atrophy0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM138920376607939
HP:0001272HP:0001272Cerebellar atrophy0SUMF1 CL E G H285362272200Multiple sulfatase deficiency272200C0268263OMIM148720376607939
HP:0001272HP:0001272Cerebellar atrophy0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1364117089608441
HP:0001272HP:0001272Cerebellar atrophy0SYNE1 CL E G H23345610743Spinocerebellar ataxia, autosomal recessive 8610743C1853116OMIM1417017089608441
HP:0001272HP:0001272Cerebellar atrophy0SYT14 CL E G H255928284271ORPHA18423143610949
HP:0001272HP:0001272Cerebellar atrophy0SYT14 CL E G H255928614229Spinocerebellar ataxia, autosomal recessive 11614229C3280226OMIM18423143610949
HP:0001272HP:0001272Cerebellar atrophy0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM113516133611663
HP:0001272HP:0001272Cerebellar atrophy0TBC1D20 CL E G H128637615663Warburg micro syndrome 4615663C3810265OMIM114216133611663
HP:0001272HP:0001272Cerebellar atrophy0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM130311581604649
HP:0001272HP:0001272Cerebellar atrophy0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM136211581604649
HP:0001272HP:0001272Cerebellar atrophy0TBCE CL E G H6905496756ORPHA126111582604934
HP:0001272HP:0001272Cerebellar atrophy0TBCE CL E G H6905496756ORPHA130111582604934
HP:0001272HP:0001272Cerebellar atrophy0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM126111582604934
HP:0001272HP:0001272Cerebellar atrophy0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM130111582604934
HP:0001272HP:0001272Cerebellar atrophy0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110211588600075
HP:0001272HP:0001272Cerebellar atrophy0TBP CL E G H6908607136Spinocerebellar ataxia 17607136C1846707OMIM110611588600075
HP:0001272HP:0001272Cerebellar atrophy0TGM6 CL E G H343641276193ORPHA127016255613900
HP:0001272HP:0001272Cerebellar atrophy0TGM6 CL E G H343641276193ORPHA127516255613900
HP:0001272HP:0001272Cerebellar atrophy0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM127016255613900
HP:0001272HP:0001272Cerebellar atrophy0TGM6 CL E G H343641613908Spinocerebellar ataxia 35613908C3888031OMIM127516255613900
HP:0001272HP:0001272Cerebellar atrophy0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM117625186616101
HP:0001272HP:0001272Cerebellar atrophy0TMEM240 CL E G H339453607454Spinocerebellar ataxia 21607454C1843891OMIM118625186616101
HP:0001272HP:0001272Cerebellar atrophy0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM114511992601243
HP:0001272HP:0001272Cerebellar atrophy0TOP3A CL E G H7156618098PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5618098CN253818OMIM116711992601243
HP:0001272HP:0001272Cerebellar atrophy0TPP1 CL E G H1200284324ORPHA16452073607998
HP:0001272HP:0001272Cerebellar atrophy0TPP1 CL E G H1200284324ORPHA17452073607998
HP:0001272HP:0001272Cerebellar atrophy0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM16452073607998
HP:0001272HP:0001272Cerebellar atrophy0TPP1 CL E G H1200609270Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia609270C1836474OMIM17452073607998
HP:0001272HP:0001272Cerebellar atrophy0TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM13923066610397
HP:0001272HP:0001272Cerebellar atrophy0TRAPPC6B CL E G H122553617862NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY617862CN787271OMIM14423066610397
HP:0001272HP:0001272Cerebellar atrophy0TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM13612335602345
HP:0001272HP:0001272Cerebellar atrophy0TRPC3 CL E G H7222616410Spinocerebellar ataxia 41616410C4225158OMIM13912335602345
HP:0001272HP:0001272Cerebellar atrophy0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM120828422608753
HP:0001272HP:0001272Cerebellar atrophy0TSEN2 CL E G H80746612389Pontocerebellar hypoplasia type 2B612389C2676466OMIM122828422608753
HP:0001272HP:0001272Cerebellar atrophy0TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM120719141611695
HP:0001272HP:0001272Cerebellar atrophy0TTBK2 CL E G H146057604432Spinocerebellar ataxia 11604432C1858351OMIM121019141611695
HP:0001272HP:0001272Cerebellar atrophy0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM123626006613814
HP:0001272HP:0001272Cerebellar atrophy0TTC19 CL E G H54902615157Mitochondrial complex III deficiency, nuclear type 2615157C3554605OMIM124926006613814
HP:0001272HP:0001272Cerebellar atrophy0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM116820774602662
HP:0001272HP:0001272Cerebellar atrophy0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM118120774602662
HP:0001272HP:0001272Cerebellar atrophy0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM12341160606075
HP:0001272HP:0001272Cerebellar atrophy0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM12701160606075
HP:0001272HP:0001272Cerebellar atrophy0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM14617772609063
HP:0001272HP:0001272Cerebellar atrophy0TXN2 CL E G H25828616811Combined oxidative phosphorylation deficiency 29616811C4225200OMIM15017772609063
HP:0001272HP:0001272Cerebellar atrophy0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM15823230610552
HP:0001272HP:0001272Cerebellar atrophy0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM110923230610552
HP:0001272HP:0001272Cerebellar atrophy0UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM15823230610552
HP:0001272HP:0001272Cerebellar atrophy0UBA5 CL E G H79876617133Spinocerebellar ataxia, autosomal recessive 24617133C4310699OMIM110923230610552
HP:0001272HP:0001272Cerebellar atrophy0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM14712511600673
HP:0001272HP:0001272Cerebellar atrophy0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM15212511600673
HP:0001272HP:0001272Cerebellar atrophy0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0001272HP:0001272Cerebellar atrophy0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0001272HP:0001272Cerebellar atrophy0UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM14920597610553
HP:0001272HP:0001272Cerebellar atrophy0UFM1 CL E G H51569617899LEUKODYSTROPHY, HYPOMYELINATING, 14617899CN845004OMIM15520597610553
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 1224050CN074243OMIM146112698192977
HP:0001272HP:0001272Cerebellar atrophy0VLDLR CL E G H7436224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1224050CN074243OMIM147712698192977
HP:0001272HP:0001272Cerebellar atrophy0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM17214583608549
HP:0001272HP:0001272Cerebellar atrophy0VPS11 CL E G H55823616683Leukodystrophy, hypomyelinating, 12616683C4225247OMIM110514583608549
HP:0001272HP:0001272Cerebellar atrophy0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM129825608615850
HP:0001272HP:0001272Cerebellar atrophy0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM130425608615850
HP:0001272HP:0001272Cerebellar atrophy0VWA3B CL E G H200403616948Spinocerebellar ataxia, autosomal recessive 22616948C4310781OMIM15428385614884
HP:0001272HP:0001272Cerebellar atrophy0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM15212730604733
HP:0001272HP:0001272Cerebellar atrophy0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM16512730604733
HP:0001272HP:0001272Cerebellar atrophy0WDR45 CL E G H11152329284ORPHA143128912300526
HP:0001272HP:0001272Cerebellar atrophy0WDR45 CL E G H11152329284ORPHA146428912300526
HP:0001272HP:0001272Cerebellar atrophy0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM143128912300526
HP:0001272HP:0001272Cerebellar atrophy0WDR45 CL E G H11152300894Neurodegeneration with brain iron accumulation 5300894C3550973OMIM146428912300526
HP:0001272HP:0001272Cerebellar atrophy0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM124826600614218
HP:0001272HP:0001272Cerebellar atrophy0WDR81 CL E G H124997610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185C2750234OMIM125626600614218
HP:0001272HP:0001272Cerebellar atrophy0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM176712799605131
HP:0001272HP:0001272Cerebellar atrophy0WWOX CL E G H51741614322Spinocerebellar ataxia, autosomal recessive 12614322C3280452OMIM187912799605131
HP:0001272HP:0001272Cerebellar atrophy0XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM14512828194360
HP:0001272HP:0001272Cerebellar atrophy0XRCC1 CL E G H7515617633SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26617633C4539948OMIM14712828194360
HP:0001272HP:0001272Cerebellar atrophy0ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM15312872600470
HP:0001272HP:0001272Cerebellar atrophy0ZIC1 CL E G H7545616602Craniosynostosis 6616602C4225269OMIM16312872600470
HP:0001272HP:0001272Cerebellar atrophy0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM119915807610827
HP:0001272HP:0001272Cerebellar atrophy0ZNF335 CL E G H63925615095Primary autosomal recessive microcephaly 10615095C3554499OMIM126215807610827
HP:0001272HP:0001272Cerebellar atrophy0ZNHIT3 CL E G H93262836ORPHA110812309604500
HP:0001272HP:0001272Cerebellar atrophy0ZNHIT3 CL E G H93262836ORPHA110912309604500
HP:0001272HP:0001272Cerebellar atrophy0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM110812309604500
HP:0001272HP:0001272Cerebellar atrophy0ZNHIT3 CL E G H9326260565PEHO syndrome260565C1850055OMIM110912309604500
HP:0001272HP:0006879Pontocerebellar atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0001272HP:0006879Pontocerebellar atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001272HP:0006855Cerebellar vermis atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0001272HP:0006855Cerebellar vermis atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001272HP:0008278Cerebellar cortical atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0001272HP:0008278Cerebellar cortical atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001272HP:0012080Cerebellar granular layer atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0001272HP:0012080Cerebellar granular layer atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001272HP:0100275Diffuse cerebellar atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0001272HP:0100275Diffuse cerebellar atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001272HP:0007263Spinocerebellar atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM131415868613599
HP:0001272HP:0007263Spinocerebellar atrophy1ABHD12 CL E G H26090612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract612674C2675204OMIM138915868613599
HP:0001272HP:0006879Pontocerebellar atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0001272HP:0006879Pontocerebellar atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0001272HP:0006855Cerebellar vermis atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0001272HP:0006855Cerebellar vermis atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0001272HP:0008278Cerebellar cortical atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0001272HP:0008278Cerebellar cortical atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0001272HP:0012080Cerebellar granular layer atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0001272HP:0012080Cerebellar granular layer atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0001272HP:0100275Diffuse cerebellar atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0001272HP:0100275Diffuse cerebellar atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0001272HP:0007263Spinocerebellar atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0001272HP:0007263Spinocerebellar atrophy1ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0001272HP:0006879Pontocerebellar atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001272HP:0006879Pontocerebellar atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0001272HP:0006855Cerebellar vermis atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001272HP:0006855Cerebellar vermis atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0001272HP:0008278Cerebellar cortical atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001272HP:0008278Cerebellar cortical atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0001272HP:0012080Cerebellar granular layer atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001272HP:0012080Cerebellar granular layer atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0001272HP:0100275Diffuse cerebellar atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001272HP:0100275Diffuse cerebellar atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0001272HP:0007263Spinocerebellar atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM163177104620
HP:0001272HP:0007263Spinocerebellar atrophy1ACY1 CL E G H95609924Aminoacylase 1 deficiency609924C1835922OMIM178177104620
HP:0001272HP:0006879Pontocerebellar 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:0008278Cerebellar cortical 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:0012082Cerebellar Purkinje layer 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:0007263Spinocerebellar atrophy1ADPRHL2 CL E G H54936618170NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES618170OMIM121304610624
HP:0001272HP:0006879Pontocerebellar atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001272HP:0006879Pontocerebellar atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001272HP:0006855Cerebellar vermis atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001272HP:0006855Cerebellar vermis atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001272HP:0008278Cerebellar cortical atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001272HP:0008278Cerebellar cortical atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001272HP:0012080Cerebellar granular layer atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001272HP:0012080Cerebellar granular layer atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001272HP:0100275Diffuse cerebellar atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001272HP:0100275Diffuse cerebellar atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001272HP:0007263Spinocerebellar atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1368291608222
HP:0001272HP:0007263Spinocerebellar atrophy1ADSL CL E G H158103050Adenylosuccinate lyase deficiency103050C0268126OMIM1582291608222
HP:0001272HP:0006879Pontocerebellar atrophy1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001272HP:0006879Pontocerebellar atrophy1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001272HP:0006855Cerebellar vermis atrophy1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001272HP:0006855Cerebellar vermis atrophy1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001272HP:0008278Cerebellar cortical atrophy1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001272HP:0008278Cerebellar cortical atrophy1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001272HP:0012080Cerebellar granular layer atrophy1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001272HP:0012080Cerebellar granular layer atrophy1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001272HP:0100275Diffuse cerebellar atrophy1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001272HP:0100275Diffuse cerebellar atrophy1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001272HP:0007263Spinocerebellar atrophy1AFG3L2 CL E G H10939313772ORPHA1349315604581
HP:0001272HP:0007263Spinocerebellar atrophy1AFG3L2 CL E G H10939313772ORPHA1357315604581
HP:0001272HP:0006879Pontocerebellar atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001272HP:0006879Pontocerebellar atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001272HP:0006855Cerebellar vermis atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001272HP:0006855Cerebellar vermis atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001272HP:0008278Cerebellar cortical atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001272HP:0008278Cerebellar cortical atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001272HP:0012080Cerebellar granular layer atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001272HP:0012080Cerebellar granular layer atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001272HP:0100275Diffuse cerebellar atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001272HP:0100275Diffuse cerebellar atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001272HP:0007263Spinocerebellar atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1349315604581
HP:0001272HP:0007263Spinocerebellar atrophy1AFG3L2 CL E G H10939614487Spastic ataxia 5, autosomal recessive614487C3280977OMIM1357315604581
HP:0001272HP:0006879Pontocerebellar atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0001272HP:0006879Pontocerebellar atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0001272HP:0006855Cerebellar vermis atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0001272HP:0006855Cerebellar vermis atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0001272HP:0008278Cerebellar cortical atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0001272HP:0008278Cerebellar cortical atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0001272HP:0012080Cerebellar granular layer atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0001272HP:0012080Cerebellar granular layer atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0001272HP:0100275Diffuse cerebellar atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0001272HP:0100275Diffuse cerebellar atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0001272HP:0007263Spinocerebellar atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1349315604581
HP:0001272HP:0007263Spinocerebellar atrophy1AFG3L2 CL E G H10939610246Spinocerebellar ataxia 28610246C1853249OMIM1357315604581
HP:0001272HP:0006879Pontocerebellar atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0001272HP:0006855Cerebellar vermis atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0001272HP:0008278Cerebellar cortical atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0001272HP:0012080Cerebellar granular layer atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0001272HP:0100275Diffuse cerebellar atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0001272HP:0007263Spinocerebellar atrophy1AGTPBP1 CL E G H23287618276618276618276OMIM16417258606830
HP:0001272HP:0006879Pontocerebellar atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0001272HP:0006879Pontocerebellar atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0001272HP:0006855Cerebellar vermis atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0001272HP:0006855Cerebellar vermis atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0001272HP:0008278Cerebellar cortical atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0001272HP:0008278Cerebellar cortical atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0001272HP:0012080Cerebellar granular layer atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0001272HP:0012080Cerebellar granular layer atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0001272HP:0100275Diffuse cerebellar atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0001272HP:0100275Diffuse cerebellar atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0001272HP:0007263Spinocerebellar atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM17720609600859
HP:0001272HP:0007263Spinocerebellar atrophy1AIMP2 CL E G H7965618006LEUKODYSTROPHY, HYPOMYELINATING, 17618006CN248514OMIM110520609600859
HP:0001272HP:0006879Pontocerebellar atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001272HP:0006879Pontocerebellar atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001272HP:0006855Cerebellar vermis atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001272HP:0006855Cerebellar vermis atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001272HP:0008278Cerebellar cortical atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001272HP:0008278Cerebellar cortical atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001272HP:0012080Cerebellar granular layer atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001272HP:0012080Cerebellar granular layer atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001272HP:0100275Diffuse cerebellar atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001272HP:0100275Diffuse cerebellar atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001272HP:0007263Spinocerebellar atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM115923056608750
HP:0001272HP:0007263Spinocerebellar atrophy1ALG3 CL E G H10195601110Congenital disorder of glycosylation type 1D601110C1832736OMIM116623056608750
HP:0001272HP:0006879Pontocerebellar atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001272HP:0006879Pontocerebellar atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001272HP:0006855Cerebellar vermis atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001272HP:0006855Cerebellar vermis atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001272HP:0008278Cerebellar cortical atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001272HP:0008278Cerebellar cortical atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001272HP:0012080Cerebellar granular layer atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001272HP:0012080Cerebellar granular layer atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001272HP:0100275Diffuse cerebellar atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001272HP:0100275Diffuse cerebellar atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001272HP:0007263Spinocerebellar atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM121215672606941
HP:0001272HP:0007263Spinocerebellar atrophy1ALG9 CL E G H79796608776ALG9 congenital disorder of glycosylation608776C2931006OMIM122215672606941
HP:0001272HP:0006879Pontocerebellar atrophy1ANO10 CL E G H55129284289ORPHA121425519613726
HP:0001272HP:0006879Pontocerebellar atrophy1ANO10 CL E G H55129284289ORPHA122225519613726
HP:0001272HP:0006855Cerebellar vermis atrophy1ANO10 CL E G H55129284289ORPHA121425519613726
HP:0001272HP:0006855Cerebellar vermis atrophy1ANO10 CL E G H55129284289ORPHA122225519613726
HP:0001272HP:0008278Cerebellar cortical atrophy1ANO10 CL E G H55129284289ORPHA121425519613726
HP:0001272HP:0008278Cerebellar cortical atrophy1ANO10 CL E G H55129284289ORPHA122225519613726
HP:0001272HP:0012080Cerebellar granular layer atrophy1ANO10 CL E G H55129284289ORPHA121425519613726
HP:0001272HP:0012080Cerebellar granular layer atrophy1ANO10 CL E G H55129284289ORPHA122225519613726
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ANO10 CL E G H55129284289ORPHA121425519613726
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ANO10 CL E G H55129284289ORPHA122225519613726
HP:0001272HP:0100275Diffuse cerebellar atrophy1ANO10 CL E G H55129284289ORPHA121425519613726
HP:0001272HP:0100275Diffuse cerebellar atrophy1ANO10 CL E G H55129284289ORPHA122225519613726
HP:0001272HP:0007263Spinocerebellar atrophy1ANO10 CL E G H55129284289ORPHA121425519613726
HP:0001272HP:0007263Spinocerebellar atrophy1ANO10 CL E G H55129284289ORPHA122225519613726
HP:0001272HP:0006879Pontocerebellar atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0001272HP:0006879Pontocerebellar atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0001272HP:0006855Cerebellar vermis atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0001272HP:0006855Cerebellar vermis atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0001272HP:0008278Cerebellar cortical atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0001272HP:0008278Cerebellar cortical atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0001272HP:0012080Cerebellar granular layer atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0001272HP:0012080Cerebellar granular layer atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0001272HP:0100275Diffuse cerebellar atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0001272HP:0100275Diffuse cerebellar atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0001272HP:0007263Spinocerebellar atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM121425519613726
HP:0001272HP:0007263Spinocerebellar atrophy1ANO10 CL E G H55129613728Spinocerebellar ataxia, autosomal recessive 10613728C3150998OMIM122225519613726
HP:0001272HP:0006879Pontocerebellar atrophy1AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001272HP:0006879Pontocerebellar atrophy1AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001272HP:0007263Spinocerebellar atrophy1AP4B1 CL E G H10717280763ORPHA1189572607245
HP:0001272HP:0007263Spinocerebellar atrophy1AP4B1 CL E G H10717280763ORPHA1254572607245
HP:0001272HP:0006879Pontocerebellar atrophy1AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001272HP:0006879Pontocerebellar atrophy1AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001272HP:0007263Spinocerebellar atrophy1AP4E1 CL E G H23431280763ORPHA1238573607244
HP:0001272HP:0007263Spinocerebellar atrophy1AP4E1 CL E G H23431280763ORPHA1332573607244
HP:0001272HP:0006879Pontocerebellar atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001272HP:0006879Pontocerebellar atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001272HP:0006855Cerebellar vermis atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001272HP:0008278Cerebellar cortical atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001272HP:0012080Cerebellar granular layer atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1332573607244
HP:0001272HP:0100275Diffuse cerebellar atrophy1AP4E1 CL E G H23431613744Spastic paraplegia 51, autosomal recessive613744C3151056OMIM1238573607244
HP:0001272HP:0100275Diffuse cerebellar atrophy1