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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001272HP:0001272Cerebellar atrophy0AARS2 CL E G H5750521022OMIM:615889Leukoencephalopathy, progressive, with ovarian failureHP:0040283 - Occasional143
HP:0001272HP:0001272Cerebellar atrophy0ABHD12 CL E G H2609015868OMIM:612674Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract.50
HP:0001272HP:0001272Cerebellar atrophy0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0001272HP:0001272Cerebellar atrophy0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0001272HP:0001272Cerebellar atrophy0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0001272HP:0001272Cerebellar atrophy0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0001272HP:0001272Cerebellar atrophy0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939315ORPHA:313772Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndromeHP:0040282 - Frequent86
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939315OMIM:614487Spastic ataxia 5, autosomal recessive.86
HP:0001272HP:0001272Cerebellar atrophy0AFG3L2 CL E G H10939315OMIM:610246Spinocerebellar ataxia 28.86
HP:0001272HP:0001272Cerebellar atrophy0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0001272HP:0001272Cerebellar atrophy0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0001272HP:0001272Cerebellar atrophy0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0001272HP:0001272Cerebellar atrophy0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040283 - Occasional58
HP:0001272HP:0001272Cerebellar atrophy0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0001272HP:0001272Cerebellar atrophy0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0001272HP:0001272Cerebellar atrophy0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0001272HP:0001272Cerebellar atrophy0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0001272HP:0001272Cerebellar atrophy0ANO10 CL E G H5512925519OMIM:613728Spinocerebellar ataxia, autosomal recessive 10.64
HP:0001272HP:0001272Cerebellar atrophy0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0001272HP:0001272Cerebellar atrophy0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0001272HP:0001272Cerebellar atrophy0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0001272HP:0001272Cerebellar atrophy0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0001272HP:0001272Cerebellar atrophy0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0001272HP:0001272Cerebellar atrophy0AP4M1 CL E G H9179574OMIM:612936Spastic paraplegia 50, autosomal recessive.41
HP:0001272HP:0001272Cerebellar atrophy0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0001272HP:0001272Cerebellar atrophy0APTX CL E G H5484015984OMIM:208920Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia.61
HP:0001272HP:0001272Cerebellar atrophy0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0001272HP:0001272Cerebellar atrophy0ARF1 CL E G H375652OMIM:618185Periventricular nodular heterotopia 8
HP:0001272HP:0001272Cerebellar atrophy0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0001272HP:0001272Cerebellar atrophy0ARMC9 CL E G H8021020730OMIM:617622JOUBERT SYNDROME 30; JBTS30
HP:0001272HP:0001272Cerebellar atrophy0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0001272HP:0001272Cerebellar atrophy0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0001272HP:0001272Cerebellar atrophy0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0001272HP:0001272Cerebellar atrophy0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0001272HP:0001272Cerebellar atrophy0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0001272HP:0001272Cerebellar atrophy0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0001272HP:0001272Cerebellar atrophy0ATP1A2 CL E G H477800ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional239
HP:0001272HP:0001272Cerebellar atrophy0ATP1A2 CL E G H477800OMIM:602481Migraine, familial hemiplegic, 2239
HP:0001272HP:0001272Cerebellar atrophy0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0001272HP:0001272Cerebellar atrophy0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040283 - Occasional150
HP:0001272HP:0001272Cerebellar atrophy0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0001272HP:0001272Cerebellar atrophy0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0001272HP:0001272Cerebellar atrophy0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0001272HP:0001272Cerebellar atrophy0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0001272HP:0001272Cerebellar atrophy0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0001272HP:0001272Cerebellar atrophy0ATP8A2 CL E G H5176113533OMIM:615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4.24
HP:0001272HP:0001272Cerebellar atrophy0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0001272HP:0001272Cerebellar atrophy0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 1HP:0040282 - Frequent19
HP:0001272HP:0001272Cerebellar atrophy0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 10.9
HP:0001272HP:0001272Cerebellar atrophy0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0001272HP:0001272Cerebellar atrophy0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0001272HP:0001272Cerebellar atrophy0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H42877106ORPHA:276238Machado-Joseph disease type 1HP:0040282 - Frequent14
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H42877106ORPHA:276241Machado-Joseph disease type 2HP:0040282 - Frequent14
HP:0001272HP:0001272Cerebellar atrophy0ATXN3 CL E G H42877106ORPHA:276244Machado-Joseph disease type 3HP:0040282 - Frequent14
HP:0001272HP:0001272Cerebellar atrophy0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0001272HP:0001272Cerebellar atrophy0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0001272HP:0001272Cerebellar atrophy0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0001272HP:0001272Cerebellar atrophy0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0001272HP:0001272Cerebellar atrophy0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0001272HP:0001272Cerebellar atrophy0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0001272HP:0001272Cerebellar atrophy0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040283 - Occasional8
HP:0001272HP:0001272Cerebellar atrophy0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0001272HP:0001272Cerebellar atrophy0BCL11A CL E G H5333513221OMIM:617101Intellectual developmental disorder with persistence of fetal hemoglobinHP:0040283 - Occasional11
HP:0001272HP:0001272Cerebellar atrophy0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndromeHP:0040284 - Very rare17
HP:0001272HP:0001272Cerebellar atrophy0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0001272HP:0001272Cerebellar atrophy0BEAN1 CL E G H14622724160OMIM:117210Spinocerebellar ataxia 31.1
HP:0001272HP:0001272Cerebellar atrophy0BEAN1 CL E G H14622724160ORPHA:217012Spinocerebellar ataxia type 31HP:0040281 - Very frequent1
HP:0001272HP:0001272Cerebellar atrophy0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0001272HP:0001272Cerebellar atrophy0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223
HP:0001272HP:0001272Cerebellar atrophy0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4HP:0040283 - Occasional114
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2449
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H7731388ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional449
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxia449
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H7731388OMIM:141500Migraine, familial hemiplegic, 1.449
HP:0001272HP:0001272Cerebellar atrophy0CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6.449
HP:0001272HP:0001272Cerebellar atrophy0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0001272HP:0001272Cerebellar atrophy0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040282 - Frequent32
HP:0001272HP:0001272Cerebellar atrophy0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay48
HP:0001272HP:0001272Cerebellar atrophy0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001272HP:0001272Cerebellar atrophy0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001272HP:0001272Cerebellar atrophy0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0001272HP:0001272Cerebellar atrophy0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0001272HP:0001272Cerebellar atrophy0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0001272HP:0001272Cerebellar atrophy0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0001272HP:0001272Cerebellar atrophy0CCDC88A CL E G H5570425523OMIM:617507Peho-Like syndrome.1
HP:0001272HP:0001272Cerebellar atrophy0CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 4054
HP:0001272HP:0001272Cerebellar atrophy0CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 4054
HP:0001272HP:0001272Cerebellar atrophy0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0001272HP:0001272Cerebellar atrophy0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0001272HP:0001272Cerebellar atrophy0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0001272HP:0001272Cerebellar atrophy0CERS1 CL E G H1071514253OMIM:616230Epilepsy, progressive myoclonic, 81
HP:0001272HP:0001272Cerebellar atrophy0CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessive
HP:0001272HP:0001272Cerebellar atrophy0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040284 - Very rare16
HP:0001272HP:0001272Cerebellar atrophy0CKAP2L CL E G H15046826877OMIM:272440Filippi syndrome.7
HP:0001272HP:0001272Cerebellar atrophy0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development.102
HP:0001272HP:0001272Cerebellar atrophy0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0001272HP:0001272Cerebellar atrophy0CLN5 CL E G H12032076OMIM:256731Ceroid lipofuscinosis, neuronal, 5HP:0040283 - Occasional141
HP:0001272HP:0001272Cerebellar atrophy0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0001272HP:0001272Cerebellar atrophy0CLN8 CL E G H20552079OMIM:600143Ceroid lipofuscinosis, neuronal, 8.111
HP:0001272HP:0001272Cerebellar atrophy0CLN8 CL E G H20552079OMIM:610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant.111
HP:0001272HP:0001272Cerebellar atrophy0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040281 - Very frequent111
HP:0001272HP:0001272Cerebellar atrophy0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0001272HP:0001272Cerebellar atrophy0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia.38
HP:0001272HP:0001272Cerebellar atrophy0CLPB CL E G H8157030664OMIM:6198353-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A38
HP:0001272HP:0001272Cerebellar atrophy0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0001272HP:0001272Cerebellar atrophy0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0001272HP:0001272Cerebellar atrophy0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0001272HP:0001272Cerebellar atrophy0CNTNAP1 CL E G H85068011OMIM:618186Neuropathy, congenital hypomyelinating, 3.9
HP:0001272HP:0001272Cerebellar atrophy0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001272HP:0001272Cerebellar atrophy0COA7 CL E G H6526025716OMIM:618387Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3.
HP:0001272HP:0001272Cerebellar atrophy0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001272HP:0001272Cerebellar atrophy0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0001272HP:0001272Cerebellar atrophy0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0001272HP:0001272Cerebellar atrophy0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0001272HP:0001272Cerebellar atrophy0COG7 CL E G H9194918622ORPHA:79333COG7-CDG64
HP:0001272HP:0001272Cerebellar atrophy0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0001272HP:0001272Cerebellar atrophy0COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040283 - Occasional39
HP:0001272HP:0001272Cerebellar atrophy0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0001272HP:0001272Cerebellar atrophy0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0001272HP:0001272Cerebellar atrophy0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0001272HP:0001272Cerebellar atrophy0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0001272HP:0001272Cerebellar atrophy0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0001272HP:0001272Cerebellar atrophy0COQ8A CL E G H5699716812ORPHA:139485Autosomal recessive ataxia due to ubiquinone deficiencyHP:0040281 - Very frequent136
HP:0001272HP:0001272Cerebellar atrophy0COQ8A CL E G H5699716812OMIM:612016Coenzyme Q10 deficiency, primary, 4.136
HP:0001272HP:0001272Cerebellar atrophy0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0001272HP:0001272Cerebellar atrophy0COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0001272HP:0001272Cerebellar atrophy0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0001272HP:0001272Cerebellar atrophy0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040282 - Frequent1
HP:0001272HP:0001272Cerebellar atrophy0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8.
HP:0001272HP:0001272Cerebellar atrophy0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0001272HP:0001272Cerebellar atrophy0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndromeHP:0040284 - Very rare2
HP:0001272HP:0001272Cerebellar atrophy0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0001272HP:0001272Cerebellar atrophy0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0001272HP:0001272Cerebellar atrophy0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0001272HP:0001272Cerebellar atrophy0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0001272HP:0001272Cerebellar atrophy0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0001272HP:0001272Cerebellar atrophy0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0001272HP:0001272Cerebellar atrophy0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0001272HP:0001272Cerebellar atrophy0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0001272HP:0001272Cerebellar atrophy0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0001272HP:0001272Cerebellar atrophy0DAB1 CL E G H16002661OMIM:615945Spinocerebellar ataxia 37.4
HP:0001272HP:0001272Cerebellar atrophy0DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 374
HP:0001272HP:0001272Cerebellar atrophy0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0001272HP:0001272Cerebellar atrophy0DEGS1 CL E G H856013709OMIM:618404Leukodystrophy, hypomyelinating, 18.
HP:0001272HP:0001272Cerebellar atrophy0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0001272HP:0001272Cerebellar atrophy0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0001272HP:0001272Cerebellar atrophy0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0001272HP:0001272Cerebellar atrophy0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0001272HP:0001272Cerebellar atrophy0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.3
HP:0001272HP:0001272Cerebellar atrophy0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeHP:0040282 - Frequent3
HP:0001272HP:0001272Cerebellar atrophy0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0001272HP:0001272Cerebellar atrophy0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0001272HP:0001272Cerebellar atrophy0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040283 - Occasional145
HP:0001272HP:0001272Cerebellar atrophy0DNMT1 CL E G H17862976OMIM:604121Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant.145
HP:0001272HP:0001272Cerebellar atrophy0DOHH CL E G H8347528662OMIM:620066
HP:0001272HP:0001272Cerebellar atrophy0DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE27
HP:0001272HP:0001272Cerebellar atrophy0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0001272HP:0001272Cerebellar atrophy0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001272HP:0001272Cerebellar atrophy0EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 26.4
HP:0001272HP:0001272Cerebellar atrophy0EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 26HP:0040282 - Frequent4
HP:0001272HP:0001272Cerebellar atrophy0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34.62
HP:0001272HP:0001272Cerebellar atrophy0ELOVL5 CL E G H6048121308OMIM:615957Spinocerebellar ataxia 38.4
HP:0001272HP:0001272Cerebellar atrophy0ELOVL5 CL E G H6048121308ORPHA:423296Spinocerebellar ataxia type 38HP:0040282 - Frequent4
HP:0001272HP:0001272Cerebellar atrophy0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0001272HP:0001272Cerebellar atrophy0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome5
HP:0001272HP:0001272Cerebellar atrophy0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15HP:0040284 - Very rare
HP:0001272HP:0001272Cerebellar atrophy0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0001272HP:0001272Cerebellar atrophy0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0001272HP:0001272Cerebellar atrophy0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0001272HP:0001272Cerebellar atrophy0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0001272HP:0001272Cerebellar atrophy0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0001272HP:0001272Cerebellar atrophy0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0001272HP:0001272Cerebellar atrophy0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0001272HP:0001272Cerebellar atrophy0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0001272HP:0001272Cerebellar atrophy0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0001272HP:0001272Cerebellar atrophy0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040282 - Frequent76
HP:0001272HP:0001272Cerebellar atrophy0FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0001272HP:0001272Cerebellar atrophy0FA2H CL E G H7915221197OMIM:612319Spastic paraplegia 35, autosomal recessive.76
HP:0001272HP:0001272Cerebellar atrophy0FAR1 CL E G H8418826222ORPHA:438178Fatty acyl-CoA reductase 1 deficiencyHP:0040283 - Occasional7
HP:0001272HP:0001272Cerebellar atrophy0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0001272HP:0001272Cerebellar atrophy0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0001272HP:0001272Cerebellar atrophy0FAT2 CL E G H21963596OMIM:617769Spinocerebellar ataxia 45.2
HP:0001272HP:0001272Cerebellar atrophy0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)HP:0040283 - Occasional384
HP:0001272HP:0001272Cerebellar atrophy0FCSK CL E G H19725829500OMIM:618324Congenital disorder of glycosylation with defective fucosylation 2.
HP:0001272HP:0001272Cerebellar atrophy0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0001272HP:0001272Cerebellar atrophy0FGF12 CL E G H22573668OMIM:617166Epileptic encephalopathy, early infantile, 47.3
HP:0001272HP:0001272Cerebellar atrophy0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0001272HP:0001272Cerebellar atrophy0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040283 - Occasional47
HP:0001272HP:0001272Cerebellar atrophy0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0001272HP:0001272Cerebellar atrophy0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0001272HP:0001272Cerebellar atrophy0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0001272HP:0001272Cerebellar atrophy0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0001272HP:0001272Cerebellar atrophy0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0001272HP:0001272Cerebellar atrophy0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 19.61
HP:0001272HP:0001272Cerebellar atrophy0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0001272HP:0001272Cerebellar atrophy0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0001272HP:0001272Cerebellar atrophy0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040282 - Frequent30
HP:0001272HP:0001272Cerebellar atrophy0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0001272HP:0001272Cerebellar atrophy0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0001272HP:0001272Cerebellar atrophy0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001272HP:0001272Cerebellar atrophy0GFAP CL E G H26704235ORPHA:363717Alexander disease type I188
HP:0001272HP:0001272Cerebellar atrophy0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1HP:0040283 - Occasional107
HP:0001272HP:0001272Cerebellar atrophy0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0001272HP:0001272Cerebellar atrophy0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0001272HP:0001272Cerebellar atrophy0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0001272HP:0001272Cerebellar atrophy0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0001272HP:0001272Cerebellar atrophy0GPAA1 CL E G H87334446OMIM:617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0001272HP:0001272Cerebellar atrophy0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0001272HP:0001272Cerebellar atrophy0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0001272HP:0001272Cerebellar atrophy0GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency18
HP:0001272HP:0001272Cerebellar atrophy0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0001272HP:0001272Cerebellar atrophy0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0001272HP:0001272Cerebellar atrophy0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0001272HP:0001272Cerebellar atrophy0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0001272HP:0001272Cerebellar atrophy0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0001272HP:0001272Cerebellar atrophy0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0001272HP:0001272Cerebellar atrophy0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0001272HP:0001272Cerebellar atrophy0GRN CL E G H28964601OMIM:614706Ceroid lipofuscinosis, neuronal, 11.126
HP:0001272HP:0001272Cerebellar atrophy0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0001272HP:0001272Cerebellar atrophy0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0001272HP:0001272Cerebellar atrophy0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome.
HP:0001272HP:0001272Cerebellar atrophy0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0001272HP:0001272Cerebellar atrophy0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A.82
HP:0001272HP:0001272Cerebellar atrophy0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardationHP:0040283 - Occasional16
HP:0001272HP:0001272Cerebellar atrophy0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0001272HP:0001272Cerebellar atrophy0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0001272HP:0001272Cerebellar atrophy0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0001272HP:0001272Cerebellar atrophy0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1HP:0040283 - Occasional98
HP:0001272HP:0001272Cerebellar atrophy0HTT CL E G H30644851OMIM:143100Huntington disease.12
HP:0001272HP:0001272Cerebellar atrophy0HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040283 - Occasional12
HP:0001272HP:0001272Cerebellar atrophy0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0001272HP:0001272Cerebellar atrophy0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040284 - Very rare16
HP:0001272HP:0001272Cerebellar atrophy0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0001272HP:0001272Cerebellar atrophy0IFRD1 CL E G H34755456ORPHA:98771Spinocerebellar ataxia type 18HP:0040283 - Occasional1
HP:0001272HP:0001272Cerebellar atrophy0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H37086180ORPHA:98769Spinocerebellar ataxia type 15/16HP:0040282 - Frequent177
HP:0001272HP:0001272Cerebellar atrophy0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040282 - Frequent177
HP:0001272HP:0001272Cerebellar atrophy0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0001272HP:0001272Cerebellar atrophy0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0001272HP:0001272Cerebellar atrophy0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional10
HP:0001272HP:0001272Cerebellar atrophy0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0001272HP:0001272Cerebellar atrophy0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0001272HP:0001272Cerebellar atrophy0KCNC1 CL E G H37466233OMIM:616187Epilepsy, progressive myoclonic 7HP:0040283 - Occasional6
HP:0001272HP:0001272Cerebellar atrophy0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 13.17
HP:0001272HP:0001272Cerebellar atrophy0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0001272HP:0001272Cerebellar atrophy0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0001272HP:0001272Cerebellar atrophy0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040282 - Frequent35
HP:0001272HP:0001272Cerebellar atrophy0KCNJ10 CL E G H37666256ORPHA:199343EAST syndromeHP:0040283 - Occasional121
HP:0001272HP:0001272Cerebellar atrophy0KCNJ10 CL E G H37666256OMIM:612780Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance.121
HP:0001272HP:0001272Cerebellar atrophy0KCNMA1 CL E G H37786284OMIM:617643Cerebellar atrophy, developmental delay, and seizures.114
HP:0001272HP:0001272Cerebellar atrophy0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0001272HP:0001272Cerebellar atrophy0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0001272HP:0001272Cerebellar atrophy0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30276
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9.276
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040282 - Frequent276
HP:0001272HP:0001272Cerebellar atrophy0KIF1A CL E G H547888OMIM:610357Spastic paraplegia 30, autosomal recessive.276
HP:0001272HP:0001272Cerebellar atrophy0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040284 - Very rare38
HP:0001272HP:0001272Cerebellar atrophy0KIF1C CL E G H107496317OMIM:611302Spastic ataxia 2, autosomal recessiveHP:0040283 - Occasional38
HP:0001272HP:0001272Cerebellar atrophy0L2HGDH CL E G H7994420499OMIM:236792L-2-Hydroxyglutaric aciduria.34
HP:0001272HP:0001272Cerebellar atrophy0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0001272HP:0001272Cerebellar atrophy0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophy411
HP:0001272HP:0001272Cerebellar atrophy0LETM1 CL E G H39546556OMIM:6200892
HP:0001272HP:0001272Cerebellar atrophy0LIG3 CL E G H39806600OMIM:619780MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS201
HP:0001272HP:0001272Cerebellar atrophy0LIPT1 CL E G H5160129569OMIM:616299Lipoyltransferase 1 deficiency.21
HP:0001272HP:0001272Cerebellar atrophy0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndrome165
HP:0001272HP:0001272Cerebellar atrophy0LNPK CL E G H8085621610OMIM:618090Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum.
HP:0001272HP:0001272Cerebellar atrophy0LYST CL E G H11301968ORPHA:167Ch├ędiak-Higashi syndromeHP:0040283 - Occasional239
HP:0001272HP:0001272Cerebellar atrophy0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0001272HP:0001272Cerebellar atrophy0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0001272HP:0001272Cerebellar atrophy0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0001272HP:0001272Cerebellar atrophy0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0001272HP:0001272Cerebellar atrophy0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001272HP:0001272Cerebellar atrophy0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25.25
HP:0001272HP:0001272Cerebellar atrophy0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive.25
HP:0001272HP:0001272Cerebellar atrophy0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV78
HP:0001272HP:0001272Cerebellar atrophy0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 51.4
HP:0001272HP:0001272Cerebellar atrophy0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0001272HP:0001272Cerebellar atrophy0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0001272HP:0001272Cerebellar atrophy0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 2.17
HP:0001272HP:0001272Cerebellar atrophy0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0001272HP:0001272Cerebellar atrophy0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7.120
HP:0001272HP:0001272Cerebellar atrophy0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0001272HP:0001272Cerebellar atrophy0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040284 - Very rare11
HP:0001272HP:0001272Cerebellar atrophy0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001272HP:0001272Cerebellar atrophy0MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0001272HP:0001272Cerebellar atrophy0MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 4318
HP:0001272HP:0001272Cerebellar atrophy0MORC2 CL E G H2288023573ORPHA:466768Autosomal dominant Charcot-Marie-Tooth disease type 2ZHP:0040284 - Very rare8
HP:0001272HP:0001272Cerebellar atrophy0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0001272HP:0001272Cerebellar atrophy0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0001272HP:0001272Cerebellar atrophy0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040282 - Frequent532
HP:0001272HP:0001272Cerebellar atrophy0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0001272HP:0001272Cerebellar atrophy0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0001272HP:0001272Cerebellar atrophy0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0001272HP:0001272Cerebellar atrophy0MTHFS CL E G H105887437OMIM:618367Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination.
HP:0001272HP:0001272Cerebellar atrophy0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0001272HP:0001272Cerebellar atrophy0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0001272HP:0001272Cerebellar atrophy0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0001272HP:0001272Cerebellar atrophy0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delayHP:0040283 - Occasional48
HP:0001272HP:0001272Cerebellar atrophy0NARS2 CL E G H7973126274OMIM:616239Combined oxidative phosphorylation deficiency 24.34
HP:0001272HP:0001272Cerebellar atrophy0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional96
HP:0001272HP:0001272Cerebellar atrophy0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 12HP:0040284 - Very rare7
HP:0001272HP:0001272Cerebellar atrophy0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001272HP:0001272Cerebellar atrophy0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0001272HP:0001272Cerebellar atrophy0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 1550
HP:0001272HP:0001272Cerebellar atrophy0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 5.81
HP:0001272HP:0001272Cerebellar atrophy0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 1.27
HP:0001272HP:0001272Cerebellar atrophy0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0001272HP:0001272Cerebellar atrophy0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunctionHP:0040284 - Very rare
HP:0001272HP:0001272Cerebellar atrophy0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040282 - Frequent32
HP:0001272HP:0001272Cerebellar atrophy0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040283 - Occasional2
HP:0001272HP:0001272Cerebellar atrophy0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0001272HP:0001272Cerebellar atrophy0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0001272HP:0001272Cerebellar atrophy0NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0001272HP:0001272Cerebellar atrophy0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0001272HP:0001272Cerebellar atrophy0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 9.1
HP:0001272HP:0001272Cerebellar atrophy0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0001272HP:0001272Cerebellar atrophy0OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0001272HP:0001272Cerebellar atrophy0OPA3 CL E G H802078142ORPHA:67036Autosomal dominant optic atrophy and cataractHP:0040282 - Frequent163
HP:0001272HP:0001272Cerebellar atrophy0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0001272HP:0001272Cerebellar atrophy0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0001272HP:0001272Cerebellar atrophy0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0001272HP:0001272Cerebellar atrophy0PCNA CL E G H51118729OMIM:615919Ataxia-Telangiectasia-Like disorder 2.1
HP:0001272HP:0001272Cerebellar atrophy0PCNA CL E G H51118729ORPHA:438134PCNA-related progressive neurodegenerative photosensitivity syndromeHP:0040283 - Occasional1
HP:0001272HP:0001272Cerebellar atrophy0PDYN CL E G H51738820OMIM:610245Spinocerebellar ataxia 23.52
HP:0001272HP:0001272Cerebellar atrophy0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiency75
HP:0001272HP:0001272Cerebellar atrophy0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B.75
HP:0001272HP:0001272Cerebellar atrophy0PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B59
HP:0001272HP:0001272Cerebellar atrophy0PEX2 CL E G H58289717OMIM:614867Peroxisome biogenesis disorder 5B.82
HP:0001272HP:0001272Cerebellar atrophy0PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome98
HP:0001272HP:0001272Cerebellar atrophy0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0001272HP:0001272Cerebellar atrophy0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0001272HP:0001272Cerebellar atrophy0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0001272HP:0001272Cerebellar atrophy0PIGK CL E G H100268965OMIM:618879NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS
HP:0001272HP:0001272Cerebellar atrophy0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0001272HP:0001272Cerebellar atrophy0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1HP:0040283 - Occasional37
HP:0001272HP:0001272Cerebellar atrophy0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0001272HP:0001272Cerebellar atrophy0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0001272HP:0001272Cerebellar atrophy0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001272HP:0001272Cerebellar atrophy0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040283 - Occasional12
HP:0001272HP:0001272Cerebellar atrophy0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0001272HP:0001272Cerebellar atrophy0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0001272HP:0001272Cerebellar atrophy0PIK3R5 CL E G H2353330035OMIM:615217Ataxia-Oculomotor apraxia 3.11
HP:0001272HP:0001272Cerebellar atrophy0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0001272HP:0001272Cerebellar atrophy0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0001272HP:0001272Cerebellar atrophy0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040281 - Very frequent133
HP:0001272HP:0001272Cerebellar atrophy0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0001272HP:0001272Cerebellar atrophy0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0001272HP:0001272Cerebellar atrophy0PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorder3
HP:0001272HP:0001272Cerebellar atrophy0PLCH1 CL E G H2300729185OMIM:619895
HP:0001272HP:0001272Cerebellar atrophy0PLD3 CL E G H2364617158OMIM:617770Spinocerebellar ataxia 46.2
HP:0001272HP:0001272Cerebellar atrophy0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2.11
HP:0001272HP:0001272Cerebellar atrophy0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0001272HP:0001272Cerebellar atrophy0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0001272HP:0001272Cerebellar atrophy0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040282 - Frequent7
HP:0001272HP:0001272Cerebellar atrophy0PMPCB CL E G H95129119OMIM:617954Multiple mitochondrial dysfunctions syndrome 6.
HP:0001272HP:0001272Cerebellar atrophy0PNKP CL E G H112849154OMIM:616267Ataxia-Oculomotor apraxia 4.244
HP:0001272HP:0001272Cerebellar atrophy0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0001272HP:0001272Cerebellar atrophy0PNKP CL E G H112849154OMIM:613402Microcephaly, seizures, and developmental delay244
HP:0001272HP:0001272Cerebellar atrophy0PNPLA6 CL E G H1090816268ORPHA:139480Autosomal recessive spastic paraplegia type 39HP:0040283 - Occasional103
HP:0001272HP:0001272Cerebellar atrophy0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0001272HP:0001272Cerebellar atrophy0PNPLA6 CL E G H1090816268OMIM:612020Spastic paraplegia 39, autosomal recessiveHP:0040283 - Occasional103
HP:0001272HP:0001272Cerebellar atrophy0PNPT1 CL E G H8717823166OMIM:608703Spinocerebellar ataxia 25.60
HP:0001272HP:0001272Cerebellar atrophy0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 2560
HP:0001272HP:0001272Cerebellar atrophy0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0001272HP:0001272Cerebellar atrophy0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0001272HP:0001272Cerebellar atrophy0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001272HP:0001272Cerebellar atrophy0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0001272HP:0001272Cerebellar atrophy0POLG CL E G H54289179OMIM:203700Mitochondrial DNA depletion syndrome 4A (Alpers type).464
HP:0001272HP:0001272Cerebellar atrophy0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0001272HP:0001272Cerebellar atrophy0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0001272HP:0001272Cerebellar atrophy0POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0001272HP:0001272Cerebellar atrophy0POLG2 CL E G H112329180OMIM:610131Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4HP:0040283 - Occasional45
HP:0001272HP:0001272Cerebellar atrophy0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 11HP:0040283 - Occasional38
HP:0001272HP:0001272Cerebellar atrophy0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0001272HP:0001272Cerebellar atrophy0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0001272HP:0001272Cerebellar atrophy0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0001272HP:0001272Cerebellar atrophy0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0001272HP:0001272Cerebellar atrophy0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0001272HP:0001272Cerebellar atrophy0POMT1 CL E G H105859202ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent213
HP:0001272HP:0001272Cerebellar atrophy0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0001272HP:0001272Cerebellar atrophy0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040282 - Frequent5
HP:0001272HP:0001272Cerebellar atrophy0PRDX3 CL E G H109359354OMIM:619862
HP:0001272HP:0001272Cerebellar atrophy0PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 14.83
HP:0001272HP:0001272Cerebellar atrophy0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 1483
HP:0001272HP:0001272Cerebellar atrophy0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0001272HP:0001272Cerebellar atrophy0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0001272HP:0001272Cerebellar atrophy0PRRT2 CL E G H11247630500ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional94
HP:0001272HP:0001272Cerebellar atrophy0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0001272HP:0001272Cerebellar atrophy0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0001272HP:0001272Cerebellar atrophy0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0001272HP:0001272Cerebellar atrophy0PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 471
HP:0001272HP:0001272Cerebellar atrophy0QARS1 CL E G H58599751OMIM:615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0001272HP:0001272Cerebellar atrophy0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0001272HP:0001272Cerebellar atrophy0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0001272HP:0001272Cerebellar atrophy0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional334
HP:0001272HP:0001272Cerebellar atrophy0REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7.
HP:0001272HP:0001272Cerebellar atrophy0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.
HP:0001272HP:0001272Cerebellar atrophy0RNASEH1 CL E G H24624318466OMIM:616479Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2.3
HP:0001272HP:0001272Cerebellar atrophy0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 4.33
HP:0001272HP:0001272Cerebellar atrophy0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0001272HP:0001272Cerebellar atrophy0RNF13 CL E G H1134210057ORPHA:544503RNF13-related severe early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0001272HP:0001272Cerebellar atrophy0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0001272HP:0001272Cerebellar atrophy0RNF216 CL E G H5447621698OMIM:212840Cerebellar ataxia and hypogonadotropic hypogonadism.10
HP:0001272HP:0001272Cerebellar atrophy0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0001272HP:0001272Cerebellar atrophy0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0001272HP:0001272Cerebellar atrophy0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0001272HP:0001272Cerebellar atrophy0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0001272HP:0001272Cerebellar atrophy0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0001272HP:0001272Cerebellar atrophy0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0001272HP:0001272Cerebellar atrophy0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0001272HP:0001272Cerebellar atrophy0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0001272HP:0001272Cerebellar atrophy0SAMD9L CL E G H2192851349OMIM:159550Ataxia-Pancytopenia syndrome4
HP:0001272HP:0001272Cerebellar atrophy0SAMD9L CL E G H2192851349ORPHA:2585Ataxia-pancytopenia syndromeHP:0040281 - Very frequent4
HP:0001272HP:0001272Cerebellar atrophy0SAMD9L CL E G H2192851349OMIM:619806SPINOCEREBELLAR ATAXIA 49; SCA494
HP:0001272HP:0001272Cerebellar atrophy0SC5D CL E G H630910547ORPHA:46059Lathosterolosis80
HP:0001272HP:0001272Cerebellar atrophy0SCARB2 CL E G H9501665OMIM:254900Epilepsy, progressive myoclonic, 4, with or without renal failure.77
HP:0001272HP:0001272Cerebellar atrophy0SCN1A CL E G H632310585ORPHA:569Familial or sporadic hemiplegic migraineHP:0040283 - Occasional1053
HP:0001272HP:0001272Cerebellar atrophy0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0001272HP:0001272Cerebellar atrophy0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0001272HP:0001272Cerebellar atrophy0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia357
HP:0001272HP:0001272Cerebellar atrophy0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0001272HP:0001272Cerebellar atrophy0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0001272HP:0001272Cerebellar atrophy0SCYL1 CL E G H5741014372OMIM:616719Spinocerebellar ataxia, autosomal recessive 21.5
HP:0001272HP:0001272Cerebellar atrophy0SDHA CL E G H638910680OMIM:619259NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA304
HP:0001272HP:0001272Cerebellar atrophy0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0001272HP:0001272Cerebellar atrophy0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0001272HP:0001272Cerebellar atrophy0SERAC1 CL E G H8494721061OMIM:6147393-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome.47
HP:0001272HP:0001272Cerebellar atrophy0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0001272HP:0001272Cerebellar atrophy0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0001272HP:0001272Cerebellar atrophy0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040283 - Occasional493
HP:0001272HP:0001272Cerebellar atrophy0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.353
HP:0001272HP:0001272Cerebellar atrophy0SHQ1 CL E G H5516425543OMIM:619922
HP:0001272HP:0001272Cerebellar atrophy0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0001272HP:0001272Cerebellar atrophy0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome67
HP:0001272HP:0001272Cerebellar atrophy0SLC13A3 CL E G H6484914430OMIM:618384Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate2
HP:0001272HP:0001272Cerebellar atrophy0SLC1A3 CL E G H650710941ORPHA:209967Episodic ataxia type 6HP:0040283 - Occasional63
HP:0001272HP:0001272Cerebellar atrophy0SLC1A3 CL E G H650710941OMIM:612656Episodic ataxia, type 663
HP:0001272HP:0001272Cerebellar atrophy0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0001272HP:0001272Cerebellar atrophy0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0001272HP:0001272Cerebellar atrophy0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0001272HP:0001272Cerebellar atrophy0SLC25A46 CL E G H9113725198OMIM:619303PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E14
HP:0001272HP:0001272Cerebellar atrophy0SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration.48
HP:0001272HP:0001272Cerebellar atrophy0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040282 - Frequent27
HP:0001272HP:0001272Cerebellar atrophy0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0001272HP:0001272Cerebellar atrophy0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2HP:0040283 - Occasional5
HP:0001272HP:0001272Cerebellar atrophy0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN.11
HP:0001272HP:0001272Cerebellar atrophy0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040282 - Frequent11
HP:0001272HP:0001272Cerebellar atrophy0SLC44A1 CL E G H2344618798OMIM:618868NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC1
HP:0001272HP:0001272Cerebellar atrophy0SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0001272HP:0001272Cerebellar atrophy0SLC9A1 CL E G H654811071OMIM:616291Lichtenstein-Knorr syndromeHP:0040283 - Occasional2
HP:0001272HP:0001272Cerebellar atrophy0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040281 - Very frequent93
HP:0001272HP:0001272Cerebellar atrophy0SLC9A6 CL E G H1047911079OMIM:300243Mental retardation, x-linked syndromic, Christianson type93
HP:0001272HP:0001272Cerebellar atrophy0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0001272HP:0001272Cerebellar atrophy0SOD1 CL E G H664711179OMIM:618598SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP53
HP:0001272HP:0001272Cerebellar atrophy0SPART CL E G H2311118514OMIM:275900Spastic paraplegia 20, autosomal recessive.66
HP:0001272HP:0001272Cerebellar atrophy0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0001272HP:0001272Cerebellar atrophy0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0001272HP:0001272Cerebellar atrophy0SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5.416
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040282 - Frequent126
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H671211276ORPHA:98766Spinocerebellar ataxia type 5HP:0040281 - Very frequent126
HP:0001272HP:0001272Cerebellar atrophy0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14.126
HP:0001272HP:0001272Cerebellar atrophy0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onsetHP:0040283 - Occasional62
HP:0001272HP:0001272Cerebellar atrophy0SRD5A3 CL E G H7964425812ORPHA:324737SRD5A3-CDGHP:0040283 - Occasional80
HP:0001272HP:0001272Cerebellar atrophy0STT3A CL E G H37036172OMIM:615596Congenital disorder of glycosylation, type Iw.21
HP:0001272HP:0001272Cerebellar atrophy0STT3A CL E G H37036172ORPHA:370921STT3A-CDGHP:0040280 - Obligate21
HP:0001272HP:0001272Cerebellar atrophy0STT3B CL E G H20159530611OMIM:615597Congenital disorder of glycosylation, type Ix.18
HP:0001272HP:0001272Cerebellar atrophy0STT3B CL E G H20159530611ORPHA:370924STT3B-CDGHP:0040280 - Obligate18
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040281 - Very frequent14
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H1027311427OMIM:618093SPINOCEREBELLAR ATAXIA 48; SCA4814
HP:0001272HP:0001272Cerebellar atrophy0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 1614
HP:0001272HP:0001272Cerebellar atrophy0STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndrome237
HP:0001272HP:0001272Cerebellar atrophy0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0001272HP:0001272Cerebellar atrophy0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040281 - Very frequent1129
HP:0001272HP:0001272Cerebellar atrophy0SYNE1 CL E G H2334517089OMIM:610743Spinocerebellar ataxia, autosomal recessive 8.1129
HP:0001272HP:0001272Cerebellar atrophy0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040281 - Very frequent4
HP:0001272HP:0001272Cerebellar atrophy0SYT14 CL E G H25592823143OMIM:614229Spinocerebellar ataxia, autosomal recessive 11.4
HP:0001272HP:0001272Cerebellar atrophy0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0001272HP:0001272Cerebellar atrophy0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0001272HP:0001272Cerebellar atrophy0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0001272HP:0001272Cerebellar atrophy0TBC1D24 CL E G H5746529203ORPHA:352582Familial infantile myoclonic epilepsyHP:0040282 - Frequent271
HP:0001272HP:0001272Cerebellar atrophy0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystonia271
HP:0001272HP:0001272Cerebellar atrophy0TBC1D2B CL E G H2310229183OMIM:619323NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0001272HP:0001272Cerebellar atrophy0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0001272HP:0001272Cerebellar atrophy0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0001272HP:0001272Cerebellar atrophy0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0001272HP:0001272Cerebellar atrophy0TBCE CL E G H690511582OMIM:617207ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO52
HP:0001272HP:0001272Cerebellar atrophy0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0001272HP:0001272Cerebellar atrophy0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0001272HP:0001272Cerebellar atrophy0TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 152
HP:0001272HP:0001272Cerebellar atrophy0TDP1 CL E G H5577518884OMIM:607250Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.52
HP:0001272HP:0001272Cerebellar atrophy0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040283 - Occasional39
HP:0001272HP:0001272Cerebellar atrophy0TGM6 CL E G H34364116255OMIM:613908Spinocerebellar ataxia 35.58
HP:0001272HP:0001272Cerebellar atrophy0TGM6 CL E G H34364116255ORPHA:276193Spinocerebellar ataxia type 35HP:0040282 - Frequent58
HP:0001272HP:0001272Cerebellar atrophy0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0001272HP:0001272Cerebellar atrophy0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0001272HP:0001272Cerebellar atrophy0TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 219
HP:0001272HP:0001272Cerebellar atrophy0TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0001272HP:0001272Cerebellar atrophy0TOP3A CL E G H715611992OMIM:618098Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5.
HP:0001272HP:0001272Cerebellar atrophy0TOR1A CL E G H18613098OMIM:128100Dystonia 1, torsion, autosomal dominant47
HP:0001272HP:0001272Cerebellar atrophy0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0001272HP:0001272Cerebellar atrophy0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0001272HP:0001272Cerebellar atrophy0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18HP:0040283 - Occasional27
HP:0001272HP:0001272Cerebellar atrophy0TRAPPC4 CL E G H5139919943OMIM:618741NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA1
HP:0001272HP:0001272Cerebellar atrophy0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
HP:0001272HP:0001272Cerebellar atrophy0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0001272HP:0001272Cerebellar atrophy0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68HP:0040284 - Very rare1
HP:0001272HP:0001272Cerebellar atrophy0TRPC3 CL E G H722212335OMIM:616410Spinocerebellar ataxia 41.1
HP:0001272HP:0001272Cerebellar atrophy0TRPC3 CL E G H722212335ORPHA:458798Spinocerebellar ataxia type 411
HP:0001272HP:0001272Cerebellar atrophy0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2B.84
HP:0001272HP:0001272Cerebellar atrophy0TTBK2 CL E G H14605719141OMIM:604432Spinocerebellar ataxia 11.57
HP:0001272HP:0001272Cerebellar atrophy0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0001272HP:0001272Cerebellar atrophy0TTPA CL E G H727412404OMIM:277460VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF62
HP:0001272HP:0001272Cerebellar atrophy0TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 114
HP:0001272HP:0001272Cerebellar atrophy0TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutationHP:0040283 - Occasional39
HP:0001272HP:0001272Cerebellar atrophy0TUBB4A CL E G H1038220774OMIM:612438Leukodystrophy, hypomyelinating, 6.66
HP:0001272HP:0001272Cerebellar atrophy0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0001272HP:0001272Cerebellar atrophy0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0001272HP:0001272Cerebellar atrophy0TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 291
HP:0001272HP:0001272Cerebellar atrophy0TXN2 CL E G H2582817772OMIM:616811Combined oxidative phosphorylation deficiency 291
HP:0001272HP:0001272Cerebellar atrophy0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0001272HP:0001272Cerebellar atrophy0UBA5 CL E G H7987623230OMIM:617133Spinocerebellar ataxia, autosomal recessive 24.13
HP:0001272HP:0001272Cerebellar atrophy0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0001272HP:0001272Cerebellar atrophy0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0001272HP:0001272Cerebellar atrophy0UFM1 CL E G H5156920597OMIM:617899Leukodystrophy, hypomyelinating, 14.
HP:0001272HP:0001272Cerebellar atrophy0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0001272HP:0001272Cerebellar atrophy0VLDLR CL E G H743612698OMIM:224050Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.111
HP:0001272HP:0001272Cerebellar atrophy0VPS11 CL E G H5582314583OMIM:616683Leukodystrophy, hypomyelinating, 121
HP:0001272HP:0001272Cerebellar atrophy0VPS11 CL E G H5582314583ORPHA:466934VPS11-related autosomal recessive hypomyelinating leukodystrophyHP:0040284 - Very rare1
HP:0001272HP:0001272Cerebellar atrophy0VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0001272HP:0001272Cerebellar atrophy0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0001272HP:0001272Cerebellar atrophy0VPS50 CL E G H5561025956OMIM:619685NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0001272HP:0001272Cerebellar atrophy0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0001272HP:0001272Cerebellar atrophy0VWA3B CL E G H20040328385OMIM:616948Spinocerebellar ataxia, autosomal recessive 221
HP:0001272HP:0001272Cerebellar atrophy0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0001272HP:0001272Cerebellar atrophy0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0001272HP:0001272Cerebellar atrophy0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0001272HP:0001272Cerebellar atrophy0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6HP:0040284 - Very rare
HP:0001272HP:0001272Cerebellar atrophy0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0001272HP:0001272Cerebellar atrophy0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0001272HP:0001272Cerebellar atrophy0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0001272HP:0001272Cerebellar atrophy0WDR81 CL E G H12499726600OMIM:610185Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2.27
HP:0001272HP:0001272Cerebellar atrophy0WWOX CL E G H5174112799OMIM:614322Spinocerebellar ataxia, autosomal recessive 12.149
HP:0001272HP:0001272Cerebellar atrophy0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 26.4
HP:0001272HP:0001272Cerebellar atrophy0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0001272HP:0001272Cerebellar atrophy0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0001272HP:0001272Cerebellar atrophy0YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0001272HP:0001272Cerebellar atrophy0ZIC1 CL E G H754512872OMIM:616602Craniosynostosis 6.5
HP:0001272HP:0001272Cerebellar atrophy0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001272HP:0001272Cerebellar atrophy0ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive.60
HP:0001272HP:0001272Cerebellar atrophy0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040282 - Frequent1
HP:0001272HP:0001272Cerebellar atrophy0ZNHIT3 CL E G H932612309OMIM:260565Peho syndrome1
HP:0001272HP:0001272Cerebellar atrophy0ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0001272HP:0012080Cerebellar granular layer atrophy1 CL E G H
HP:0001272HP:0006855Cerebellar vermis atrophy1ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0001272HP:0006855Cerebellar vermis atrophy1ARF1 CL E G H375652OMIM:618185Periventricular nodular heterotopia 8
HP:0001272HP:0007263Spinocerebellar atrophy1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040282 - Frequent11
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0001272HP:0006855Cerebellar vermis atrophy1ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0001272HP:0100275Diffuse cerebellar atrophy1BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0001272HP:0006855Cerebellar vermis atrophy1CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2.449
HP:0001272HP:0006855Cerebellar vermis atrophy1CACNA1A CL E G H7731388ORPHA:97Familial paroxysmal ataxiaHP:0040283 - Occasional449
HP:0001272HP:0006855Cerebellar vermis atrophy1CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040282 - Frequent32
HP:0001272HP:0006855Cerebellar vermis atrophy1CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0001272HP:0100275Diffuse cerebellar atrophy1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001272HP:0100275Diffuse cerebellar atrophy1CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040283 - Occasional35
HP:0001272HP:0006879Pontocerebellar atrophy1CCDC88C CL E G H44019319967OMIM:616053Spinocerebellar ataxia 40.54
HP:0001272HP:0006879Pontocerebellar atrophy1CCDC88C CL E G H44019319967ORPHA:423275Spinocerebellar ataxia type 40HP:0040282 - Frequent54
HP:0001272HP:0006855Cerebellar vermis atrophy1CHP1 CL E G H1126117433OMIM:618438Spastic ataxia 9, autosomal recessiveHP:0040284 - Very rare
HP:0001272HP:0006879Pontocerebellar atrophy1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0001272HP:0006855Cerebellar vermis atrophy1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001272HP:0006855Cerebellar vermis atrophy1COX20 CL E G H11622826970OMIM:619054MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN1125
HP:0001272HP:0006855Cerebellar vermis atrophy1CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas typeHP:0040283 - Occasional38
HP:0001272HP:0006855Cerebellar vermis atrophy1DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0001272HP:0100275Diffuse cerebellar atrophy1DAB1 CL E G H16002661ORPHA:363710Spinocerebellar ataxia type 37HP:0040282 - Frequent4
HP:0001272HP:0006855Cerebellar vermis atrophy1DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0001272HP:0006879Pontocerebellar atrophy1DPM1 CL E G H88133005OMIM:608799Congenital disorder of glycosylation, type IE.27
HP:0001272HP:0006879Pontocerebellar atrophy1DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0001272HP:0100275Diffuse cerebellar atrophy1EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040281 - Very frequent5
HP:0001272HP:0100275Diffuse cerebellar atrophy1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0001272HP:0100275Diffuse cerebellar atrophy1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0001272HP:0006879Pontocerebellar atrophy1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040283 - Occasional76
HP:0001272HP:0006855Cerebellar vermis atrophy1FA2H CL E G H7915221197ORPHA:329308Fatty acid hydroxylase-associated neurodegenerationHP:0040282 - Frequent76
HP:0001272HP:0006855Cerebellar vermis atrophy1FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0001272HP:0100275Diffuse cerebellar atrophy1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040282 - Frequent30
HP:0001272HP:0006855Cerebellar vermis atrophy1GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0001272HP:0006855Cerebellar vermis atrophy1GRID2 CL E G H28954576ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiencyHP:0040282 - Frequent18
HP:0001272HP:0006855Cerebellar vermis atrophy1GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0001272HP:0100275Diffuse cerebellar atrophy1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0001272HP:0100275Diffuse cerebellar atrophy1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001272HP:0006855Cerebellar vermis atrophy1GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0001272HP:0006855Cerebellar vermis atrophy1HTT CL E G H30644851ORPHA:248111Juvenile Huntington diseaseHP:0040283 - Occasional12
HP:0001272HP:0006855Cerebellar vermis atrophy1ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0001272HP:0100275Diffuse cerebellar atrophy1ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0001272HP:0006855Cerebellar vermis atrophy1ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040282 - Frequent177
HP:0001272HP:0100275Diffuse cerebellar atrophy1KIF1A CL E G H547888ORPHA:101010Autosomal spastic paraplegia type 30HP:0040283 - Occasional276
HP:0001272HP:0006855Cerebellar vermis atrophy1KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9276
HP:0001272HP:0006879Pontocerebellar atrophy1LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040283 - Occasional411
HP:0001272HP:0006855Cerebellar vermis atrophy1LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional165
HP:0001272HP:0006855Cerebellar vermis atrophy1MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive25
HP:0001272HP:0006855Cerebellar vermis atrophy1MME CL E G H43117154OMIM:617018SPINOCEREBELLAR ATAXIA 43; SCA4318
HP:0001272HP:0006855Cerebellar vermis atrophy1MME CL E G H43117154ORPHA:497764Spinocerebellar ataxia type 43HP:0040283 - Occasional18
HP:0001272HP:0100275Diffuse cerebellar atrophy1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0001272HP:0006855Cerebellar vermis atrophy1OPA1 CL E G H49768140OMIM:210000Behr syndrome214
HP:0001272HP:0100275Diffuse cerebellar atrophy1PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040282 - Frequent75
HP:0001272HP:0006855Cerebellar vermis atrophy1PEX16 CL E G H94098857OMIM:614877Peroxisome biogenesis disorder 8B.59
HP:0001272HP:0007263Spinocerebellar atrophy1PEX6 CL E G H51908859ORPHA:95433Autosomal recessive spinocerebellar ataxia-blindness-deafness syndromeHP:0040282 - Frequent98
HP:0001272HP:0006855Cerebellar vermis atrophy1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001272HP:0006855Cerebellar vermis atrophy1PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040281 - Very frequent11
HP:0001272HP:0008278Cerebellar cortical atrophy1PLAA CL E G H93739043ORPHA:521426PLAA-associated neurodevelopmental disorderHP:0040282 - Frequent3
HP:0001272HP:0006855Cerebellar vermis atrophy1PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0001272HP:0006855Cerebellar vermis atrophy1PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040282 - Frequent7
HP:0001272HP:0007263Spinocerebellar atrophy1PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome.103
HP:0001272HP:0100275Diffuse cerebellar atrophy1PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040282 - Frequent60
HP:0001272HP:0006855Cerebellar vermis atrophy1POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0001272HP:0006855Cerebellar vermis atrophy1PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040282 - Frequent83
HP:0001272HP:0006855Cerebellar vermis atrophy1PUM1 CL E G H969814957OMIM:617931Spinocerebellar ataxia 47.1
HP:0001272HP:0006855Cerebellar vermis atrophy1QARS1 CL E G H58599751OMIM:615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.
HP:0001272HP:0006855Cerebellar vermis atrophy1RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0001272HP:0100275Diffuse cerebellar atrophy1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0001272HP:0006855Cerebellar vermis atrophy1RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0001272HP:0006879Pontocerebellar atrophy1RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0001272HP:0006855Cerebellar vermis atrophy1SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0001272HP:0008278Cerebellar cortical atrophy1SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0001272HP:0006855Cerebellar vermis atrophy1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0001272HP:0006855Cerebellar vermis atrophy1SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D66
HP:0001272HP:0006855Cerebellar vermis atrophy1SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040281 - Very frequent162
HP:0001272HP:0006879Pontocerebellar atrophy1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0001272HP:0008278Cerebellar cortical atrophy1SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0001272HP:0008278Cerebellar cortical atrophy1SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0001272HP:0006855Cerebellar vermis atrophy1SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN11
HP:0001272HP:0006855Cerebellar vermis atrophy1STXBP1 CL E G H681211444ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040283 - Occasional237
HP:0001272HP:0100275Diffuse cerebellar atrophy1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0001272HP:0100275Diffuse cerebellar atrophy1TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystoniaHP:0040283 - Occasional271
HP:0001272HP:0012082Cerebellar Purkinje layer atrophy1TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0001272HP:0006855Cerebellar vermis atrophy1TDP1 CL E G H5577518884ORPHA:94124Spinocerebellar ataxia with axonal neuropathy type 1HP:0040282 - Frequent52
HP:0001272HP:0006855Cerebellar vermis atrophy1TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 21HP:0040282 - Frequent9
HP:0001272HP:0006855Cerebellar vermis atrophy1TRPC3 CL E G H722212335OMIM:616410Spinocerebellar ataxia 411
HP:0001272HP:0006855Cerebellar vermis atrophy1TRPC3 CL E G H722212335ORPHA:458798Spinocerebellar ataxia type 41HP:0040282 - Frequent1
HP:0001272HP:0006855Cerebellar vermis atrophy1TUBB CL E G H20306820778OMIM:156610Skin creases, congenital symmetric circumferential, 1HP:0040283 - Occasional14
HP:0001272HP:0100275Diffuse cerebellar atrophy1TXN2 CL E G H2582817772ORPHA:478029Combined oxidative phosphorylation defect type 29HP:0040281 - Very frequent1
HP:0001272HP:0006855Cerebellar vermis atrophy1VPS41 CL E G H2707212713OMIM:619389SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0001272HP:0006879Pontocerebellar atrophy1VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0001272HP:0006855Cerebellar vermis atrophy1WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0001272HP:0006855Cerebellar vermis atrophy1XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction.9
HP:0001272HP:0008278Cerebellar cortical atrophy1ZPR1 CL E G H888213051OMIM:619321GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF


Genes (408) :AARS2 ABHD12 ACO2 ACTL6B ACY1 ADPRS ADSL AFG3L2 AGTPBP1 AIMP2 ALDH5A1 ALG1 ALG3 ALG9 ANO10 AP3B2 AP4B1 AP4E1 AP4M1 AP4S1 APTX ARCN1 ARF1 ARG1 ARMC9 ARX ATAD3A ATP13A2 ATP1A2 ATP1A3 ATP2B3 ATP6AP2 ATP6V0A1 ATP6V1A ATP8A2 ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 ATXN8 ATXN8OS BCAP31 BCAS3 BCL11A BCORL1 BCS1L BEAN1 BRAT1 BTD C19ORF12 CACNA1A CACNA1G CACNA2D2 CAMK2B CARS1 CARS2 CASK CCDC88A CCDC88C CDC42 CDKL5 CERS1 CHP1 CIZ1 CKAP2L CLCN7 CLN3 CLN5 CLN8 CLPB CLTC CNP CNTNAP1 CNTNAP2 COA7 COG1 COG5 COG6 COG7 COG8 COL18A1 COL4A1 COQ2 COQ5 COQ8A COQ9 COX20 COX4I1 CPLX1 CRAT CRPPA CTBP1 CTSD CTSF CUL4B CWF19L1 CYB5A CYB5R3 CYFIP2 CYP27A1 DAB1 DARS2 DEGS1 DHCR7 DHX30 DLG4 DMXL2 DNAJC3 DNM1L DNMT1 DOHH DPM1 EBF3 EEF2 ELOVL4 ELOVL5 EMC1 EPRS1 ERCC2 ERCC3 ERCC6 ERCC8 EXOSC2 EXOSC3 EXOSC5 EXOSC9 FA2H FAR1 FARS2 FAT2 FBXL4 FCSK FDXR FGF12 FGF14 FKRP FKTN FMR1 FOXRED1 FRRS1L GAD1 GBA2 GDAP2 GEMIN5 GFAP GJB1 GNAO1 GNS GON7 GPAA1 GRIA2 GRID2 GRIK2 GRIN1 GRM1 GRM7 GRN GTF2E2 GTF2H5 GTPBP2 HDAC4 HEPACAM HERC1 HEXB HK1 HSD17B4 HTT IBA57 IFIH1 IFRD1 IRF2BPL ITPR1 KAT5 KATNB1 KCNA1 KCNC1 KCNC3 KCND3 KCNJ10 KCNMA1 KCTD7 KIF1A KIF1C L2HGDH LAGE3 LAMA2 LETM1 LIG3 LIPT1 LMX1B LNPK LYST MAG MAN2B1 MAPK8IP3 MARS2 MCOLN1 MDH2 MECR MED27 MFF MFSD8 MGME1 MICOS13 MME MORC2 MPLKIP MRE11 MRM2 MRPS34 MTHFS MVK MYH3 NADK2 NALCN NARS2 NDE1 NDUFA1 NDUFA8 NDUFA9 NDUFAF4 NDUFS1 NDUFS4 NEUROD2 NFASC NGLY1 NKX6-2 NMNAT1 NODAL NOP56 NUP214 OPA1 OPA3 OSGEP PACS1 PCLO PCNA PDYN PEX10 PEX16 PEX2 PEX6 PI4KA PIGA PIGG PIGK PIGN PIGP PIGQ PIGS PIGT PIGU PIK3R5 PITRM1 PLA2G6 PLAA PLCH1 PLD3 PLK4 PLP1 PMM2 PMPCA PMPCB PNKP PNPLA6 PNPT1 POGZ POLA1 POLG POLG2 POLR1C POLR3A POLR3B POLR3K POMT1 PPP2R2B PRDX3 PRKCG PRNP PRRT2 PRUNE1 PTRH2 PUM1 QARS1 RARS2 RBL2 RELN REPS1 RFC1 RNASEH1 RNASEH2A RNF113A RNF13 RNF170 RNF216 RNU12 RORA RRM2B RTTN RUBCN SACS SAMD9L SC5D SCARB2 SCN1A SCN1B SCN2A SCN8A SCO2 SCYL1 SDHA SEMA6B SEPSECS SERAC1 SETX SH3TC2 SHANK3 SHQ1 SIK1 SIL1 SLC13A3 SLC1A3 SLC25A22 SLC25A4 SLC25A46 SLC33A1 SLC35A2 SLC39A14 SLC39A8 SLC44A1 SLC5A6 SLC9A1 SLC9A6 SNX14 SOD1 SPART SPG7 SPTAN1 SPTBN2 SQSTM1 SRD5A3 STT3A STT3B STUB1 STXBP1 SUMF1 SYNE1 SYT14 TAF1 TARS1 TBC1D20 TBC1D24 TBC1D2B TBCD TBCE TBP TDP1 TECPR2 TGM6 TK2 TMEM240 TMX2 TOP3A TOR1A TPP1 TRAPPC11 TRAPPC4 TRAPPC6B TRIM8 TRMT1 TRPC3 TSEN2 TTBK2 TTC19 TTPA TUBB TUBB2B TUBB4A TWNK TXN2 UBA5 UBTF UCHL1 UFM1 VARS1 VLDLR VPS11 VPS41 VPS4A VPS50 VPS53 VWA3B WARS2 WDR4 WDR45 WDR73 WDR81 WWOX XRCC1 XRCC4 YIF1B YRDC ZIC1 ZMIZ1 ZNF335 ZNHIT3 ZPR1

Diseases (512) :OMIM:615889 OMIM:612674 OMIM:614559 OMIM:618468 OMIM:609924 OMIM:618170 OMIM:103050 ORPHA:313772 OMIM:614487 OMIM:610246 OMIM:618276 OMIM:618006 OMIM:271980 ORPHA:79327 OMIM:601110 ORPHA:79328 OMIM:608776 ORPHA:284289 OMIM:613728 OMIM:617276 ORPHA:280763 OMIM:613744 OMIM:612936 OMIM:208920 OMIM:617164 OMIM:618185 OMIM:207800 OMIM:617622 ORPHA:1934 OMIM:617183 ORPHA:496790 ORPHA:513436 OMIM:617225 OMIM:619605 ORPHA:569 OMIM:602481 OMIM:619606 ORPHA:71517 OMIM:302500 OMIM:300423 ORPHA:93952 OMIM:619971 OMIM:618012 OMIM:615268 OMIM:164400 ORPHA:98755 OMIM:603516 ORPHA:98761 OMIM:183090 ORPHA:98756 OMIM:109150 ORPHA:276238 ORPHA:276241 ORPHA:276244 ORPHA:94147 OMIM:608768 ORPHA:98760 OMIM:300475 ORPHA:369939 OMIM:619641 OMIM:617101 OMIM:301029 OMIM:124000 OMIM:117210 ORPHA:217012 OMIM:618056 OMIM:253260 OMIM:614298 OMIM:108500 ORPHA:97 OMIM:141500 OMIM:183086 OMIM:616795 ORPHA:458803 OMIM:618501 OMIM:617799 OMIM:618891 ORPHA:33364 ORPHA:477774 OMIM:616672 OMIM:617507 OMIM:616053 ORPHA:423275 ORPHA:487796 OMIM:616737 OMIM:616230 OMIM:618438 ORPHA:420492 OMIM:272440 OMIM:618541 ORPHA:228346 OMIM:256731 ORPHA:228360 OMIM:600143 OMIM:610003 ORPHA:1947 ORPHA:445038 OMIM:616271 OMIM:619835 OMIM:617854 OMIM:619071 OMIM:616286 OMIM:618186 ORPHA:163681 OMIM:618387 OMIM:611209 ORPHA:263487 OMIM:613612 OMIM:614576 ORPHA:79333 OMIM:608779 ORPHA:95428 OMIM:611182 OMIM:267750 OMIM:175780 OMIM:607426 OMIM:619028 ORPHA:139485 OMIM:612016 OMIM:614654 OMIM:619054 OMIM:619060 ORPHA:352582 OMIM:617917 ORPHA:370980 OMIM:617915 OMIM:610127 OMIM:615362 OMIM:300354 OMIM:616127 ORPHA:621 OMIM:618008 ORPHA:909 OMIM:213700 OMIM:615945 ORPHA:363710 ORPHA:137898 OMIM:618404 OMIM:270400 OMIM:617804 OMIM:618793 OMIM:616192 ORPHA:445062 ORPHA:98673 ORPHA:330050 ORPHA:314404 OMIM:604121 OMIM:620066 OMIM:608799 ORPHA:79322 OMIM:617330 OMIM:609306 ORPHA:101112 OMIM:133190 OMIM:615957 ORPHA:423296 OMIM:616875 ORPHA:480898 OMIM:617951 OMIM:610651 OMIM:214150 OMIM:216400 OMIM:617763 OMIM:614678 OMIM:619576 OMIM:618065 ORPHA:171629 ORPHA:329308 OMIM:612319 ORPHA:438178 OMIM:616154 OMIM:614946 OMIM:617769 OMIM:615471 OMIM:618324 ORPHA:543470 OMIM:617166 OMIM:193003 ORPHA:98764 OMIM:606612 OMIM:300623 ORPHA:93256 OMIM:618241 OMIM:616981 OMIM:619124 ORPHA:320391 OMIM:614409 OMIM:618369 OMIM:619333 ORPHA:363717 OMIM:302800 ORPHA:1175 OMIM:252940 OMIM:619603 OMIM:617810 ORPHA:529665 OMIM:618917 ORPHA:363432 OMIM:616204 OMIM:619580 OMIM:617691 OMIM:614831 OMIM:618922 OMIM:614706 OMIM:617988 OMIM:619797 OMIM:613925 OMIM:617011 ORPHA:309162 OMIM:618547 OMIM:261515 OMIM:233400 OMIM:143100 ORPHA:248111 OMIM:617435 ORPHA:468661 OMIM:615846 ORPHA:98771 OMIM:618088 OMIM:206700 OMIM:606658 OMIM:117360 ORPHA:98769 ORPHA:208513 OMIM:619103 OMIM:616212 ORPHA:89844 ORPHA:37612 OMIM:616187 OMIM:605259 ORPHA:98768 OMIM:607346 ORPHA:98772 ORPHA:199343 OMIM:612780 OMIM:617643 OMIM:618729 OMIM:611726 ORPHA:263516 ORPHA:101010 OMIM:614255 ORPHA:2836 OMIM:610357 ORPHA:397946 OMIM:611302 OMIM:236792 OMIM:301006 ORPHA:258 OMIM:620089 OMIM:619780 OMIM:616299 ORPHA:495818 OMIM:618090 ORPHA:167 OMIM:616680 OMIM:248500 ORPHA:309288 ORPHA:309282 OMIM:618443 OMIM:616430 OMIM:611390 OMIM:252650 OMIM:617339 ORPHA:508093 OMIM:619286 OMIM:617086 ORPHA:485421 OMIM:610951 OMIM:615084 ORPHA:352447 OMIM:618329 OMIM:617018 ORPHA:497764 ORPHA:466768 OMIM:619090 ORPHA:251347 OMIM:604391 OMIM:618567 OMIM:617664 OMIM:618367 OMIM:610377 OMIM:193700 ORPHA:431361 OMIM:616266 OMIM:616239 OMIM:301020 OMIM:619272 OMIM:618247 OMIM:618237 OMIM:618226 OMIM:252010 OMIM:618356 ORPHA:404454 ORPHA:527497 OMIM:617560 OMIM:619260 OMIM:270100 OMIM:614153 OMIM:618426 OMIM:210000 ORPHA:67036 OMIM:617729 ORPHA:329224 OMIM:608027 OMIM:615919 ORPHA:438134 OMIM:610245 ORPHA:247815 OMIM:614871 OMIM:614877 OMIM:614867 ORPHA:95433 OMIM:619708 OMIM:301072 ORPHA:488635 OMIM:618879 ORPHA:280633 OMIM:614080 OMIM:618143 ORPHA:369837 OMIM:615398 OMIM:618590 OMIM:615217 ORPHA:64753 OMIM:619405 ORPHA:35069 OMIM:256600 OMIM:610217 ORPHA:521426 OMIM:619895 OMIM:617770 OMIM:616171 OMIM:312080 OMIM:212065 ORPHA:1170 OMIM:617954 OMIM:616267 OMIM:613402 ORPHA:139480 OMIM:215470 OMIM:612020 OMIM:608703 ORPHA:101111 ORPHA:468678 OMIM:301030 ORPHA:254892 ORPHA:254886 OMIM:203700 OMIM:258450 OMIM:619425 OMIM:610131 OMIM:616494 OMIM:607694 OMIM:619742 OMIM:614381 OMIM:619310 OMIM:604326 ORPHA:98762 OMIM:619862 OMIM:605361 ORPHA:98763 OMIM:137440 ORPHA:157941 OMIM:617481 ORPHA:544469 OMIM:616263 OMIM:617931 OMIM:615760 OMIM:611523 OMIM:619690 OMIM:617916 OMIM:614575 OMIM:616479 OMIM:610333 ORPHA:544503 OMIM:619686 OMIM:212840 ORPHA:512260 OMIM:618060 ORPHA:468631 OMIM:614833 OMIM:615705 ORPHA:98 OMIM:270550 OMIM:159550 ORPHA:2585 OMIM:619806 ORPHA:46059 OMIM:254900 OMIM:614306 OMIM:604377 ORPHA:466794 OMIM:616719 OMIM:619259 OMIM:618876 OMIM:613811 OMIM:614739 OMIM:606002 ORPHA:99949 ORPHA:48652 OMIM:619922 OMIM:248800 OMIM:618384 ORPHA:209967 OMIM:612656 OMIM:616505 OMIM:619303 OMIM:614482 ORPHA:356961 ORPHA:521406 OMIM:617013 OMIM:616721 ORPHA:468699 OMIM:618868 OMIM:618973 OMIM:616291 ORPHA:85278 OMIM:300243 OMIM:616354 OMIM:618598 OMIM:275900 OMIM:607259 ORPHA:99013 OMIM:613477 ORPHA:352403 OMIM:600224 ORPHA:98766 OMIM:615386 OMIM:617145 ORPHA:324737 OMIM:615596 ORPHA:370921 OMIM:615597 ORPHA:370924 ORPHA:412057 OMIM:618093 OMIM:615768 OMIM:272200 ORPHA:88644 OMIM:610743 ORPHA:284271 OMIM:614229 OMIM:300966 OMIM:615663 ORPHA:352596 OMIM:619323 ORPHA:496641 OMIM:617193 ORPHA:496756 OMIM:617207 OMIM:607136 ORPHA:98759 ORPHA:94124 OMIM:607250 ORPHA:320385 OMIM:613908 ORPHA:276193 OMIM:607454 ORPHA:98773 OMIM:618730 OMIM:618098 OMIM:128100 ORPHA:284324 OMIM:609270 OMIM:615356 OMIM:618741 OMIM:617862 OMIM:618302 OMIM:616410 ORPHA:458798 OMIM:612389 OMIM:604432 OMIM:615157 OMIM:277460 OMIM:156610 ORPHA:300573 OMIM:612438 OMIM:271245 ORPHA:478029 OMIM:616811 OMIM:617132 OMIM:617133 OMIM:617672 OMIM:615491 OMIM:617899 OMIM:617802 OMIM:224050 OMIM:616683 ORPHA:466934 OMIM:619389 OMIM:619273 OMIM:619685 OMIM:615851 OMIM:616948 OMIM:617710 OMIM:619738 ORPHA:572798 OMIM:618347 ORPHA:329284 OMIM:300894 OMIM:251300 OMIM:610185 OMIM:614322 OMIM:617633 OMIM:616541 OMIM:619125 OMIM:619609 OMIM:616602 OMIM:618659 OMIM:615095 OMIM:260565 OMIM:619321
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.