Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AARS2 CL E G H | 57505 | 21022 | OMIM:615889 | Leukoencephalopathy, progressive, with ovarian failure | HP:0040283 - Occasional | | | 143 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ABHD12 CL E G H | 26090 | 15868 | OMIM:612674 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract | . | | | 50 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ACY1 CL E G H | 95 | 177 | OMIM:609924 | Aminoacylase 1 deficiency | . | | | 13 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AFG3L2 CL E G H | 10939 | 315 | ORPHA:313772 | Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:614487 | Spastic ataxia 5, autosomal recessive | . | | | 86 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AFG3L2 CL E G H | 10939 | 315 | OMIM:610246 | Spinocerebellar ataxia 28 | . | | | 86 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | . | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ALDH5A1 CL E G H | 7915 | 408 | OMIM:271980 | Succinic semialdehyde dehydrogenase deficiency | | | | 108 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040283 - Occasional | | | 58 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ANO10 CL E G H | 55129 | 25519 | ORPHA:284289 | Adult-onset autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 64 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ANO10 CL E G H | 55129 | 25519 | OMIM:613728 | Spinocerebellar ataxia, autosomal recessive 10 | . | | | 64 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 49 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 48 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | . | | | 48 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 41 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AP4M1 CL E G H | 9179 | 574 | OMIM:612936 | Spastic paraplegia 50, autosomal recessive | . | | | 41 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 18 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | APTX CL E G H | 54840 | 15984 | OMIM:208920 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | . | | | 61 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ARF1 CL E G H | 375 | 652 | OMIM:618185 | Periventricular nodular heterotopia 8 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ARG1 CL E G H | 383 | 663 | OMIM:207800 | Argininemia | | | | 31 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:617183 | Harel-Yoon syndrome | . | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATAD3A CL E G H | 55210 | 25567 | ORPHA:496790 | Ocular anomalies-axonal neuropathy-developmental delay syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040281 - Very frequent | | | 100 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 239 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:602481 | Migraine, familial hemiplegic, 2 | | | | 239 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:71517 | Rapid-onset dystonia-parkinsonism | HP:0040283 - Occasional | | | 150 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP2B3 CL E G H | 492 | 816 | OMIM:302500 | Spinocerebellar ataxia, X-linked 1 | . | | | 19 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:93952 | X-linked intellectual disability, Hedera type | HP:0040283 - Occasional | | | 36 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP6V0A1 CL E G H | 535 | 865 | OMIM:619971 | | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATP8A2 CL E G H | 51761 | 13533 | OMIM:615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4 | . | | | 24 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | | | | 19 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN1 CL E G H | 6310 | 10548 | ORPHA:98755 | Spinocerebellar ataxia type 1 | HP:0040282 - Frequent | | | 19 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN10 CL E G H | 25814 | 10549 | OMIM:603516 | Spinocerebellar ataxia 10 | . | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN10 CL E G H | 25814 | 10549 | ORPHA:98761 | Spinocerebellar ataxia type 10 | HP:0040282 - Frequent | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN2 CL E G H | 6311 | 10555 | OMIM:183090 | Spinocerebellar ataxia 2 | | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN3 CL E G H | 4287 | 7106 | OMIM:109150 | Machado-Joseph disease | . | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276238 | Machado-Joseph disease type 1 | HP:0040282 - Frequent | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276241 | Machado-Joseph disease type 2 | HP:0040282 - Frequent | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN3 CL E G H | 4287 | 7106 | ORPHA:276244 | Machado-Joseph disease type 3 | HP:0040282 - Frequent | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040282 - Frequent | | | 8 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN8 CL E G H | 724066 | 32925 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN8OS CL E G H | 6315 | 10561 | OMIM:608768 | Spinocerebellar ataxia 8 | . | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | BCAP31 CL E G H | 10134 | 16695 | OMIM:300475 | Deafness, dystonia, and cerebral hypomyelination | . | | | 8 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | HP:0040283 - Occasional | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | BCORL1 CL E G H | 63035 | 25657 | OMIM:301029 | Shukla-Vernon syndrome | HP:0040284 - Very rare | | | 17 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | BEAN1 CL E G H | 146227 | 24160 | OMIM:117210 | Spinocerebellar ataxia 31 | . | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | BEAN1 CL E G H | 146227 | 24160 | ORPHA:217012 | Spinocerebellar ataxia type 31 | HP:0040281 - Very frequent | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | BRAT1 CL E G H | 221927 | 21701 | OMIM:618056 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | . | | | 20 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | | | | 223 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | C19ORF12 CL E G H | 83636 | 25443 | OMIM:614298 | Neurodegeneration with brain iron accumulation 4 | HP:0040283 - Occasional | | | 114 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | | | | 449 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 449 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | | | | 449 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:141500 | Migraine, familial hemiplegic, 1 | . | | | 449 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CACNA1A CL E G H | 773 | 1388 | OMIM:183086 | Spinocerebellar ataxia 6 | . | | | 449 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CACNA1G CL E G H | 8913 | 1394 | OMIM:616795 | Spinocerebellar ataxia 42 | | | | 32 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040282 - Frequent | | | 32 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CACNA2D2 CL E G H | 9254 | 1400 | OMIM:618501 | Cerebellar atrophy with seizures and variable developmental delay | | | | 48 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 118 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CCDC88A CL E G H | 55704 | 25523 | OMIM:617507 | Peho-Like syndrome | . | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | | | | 54 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | | | | 54 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 405 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | HP:0040284 - Very rare | | | 16 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | . | | | 7 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:618541 | Hypopigmentation, organomegaly, and delayed myelination and development | . | | | 102 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLN5 CL E G H | 1203 | 2076 | OMIM:256731 | Ceroid lipofuscinosis, neuronal, 5 | HP:0040283 - Occasional | | | 141 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | HP:0040282 - Frequent | | | 141 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:600143 | Ceroid lipofuscinosis, neuronal, 8 | . | | | 111 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | . | | | 111 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040281 - Very frequent | | | 111 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040282 - Frequent | | | 38 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | . | | | 38 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:619835 | 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A | | | | 38 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CNP CL E G H | 1267 | 2158 | OMIM:619071 | LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | . | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | . | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COA7 CL E G H | 65260 | 25716 | OMIM:618387 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COG5 CL E G H | 10466 | 14857 | OMIM:613612 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I | | | | 79 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COG8 CL E G H | 84342 | 18623 | ORPHA:95428 | COG8-CDG | HP:0040283 - Occasional | | | 39 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COG8 CL E G H | 84342 | 18623 | OMIM:611182 | Congenital disorder of glycosylation, type IIh | | | | 39 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | . | | | 54 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COQ5 CL E G H | 84274 | 28722 | OMIM:619028 | COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COQ8A CL E G H | 56997 | 16812 | ORPHA:139485 | Autosomal recessive ataxia due to ubiquinone deficiency | HP:0040281 - Very frequent | | | 136 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COQ8A CL E G H | 56997 | 16812 | OMIM:612016 | Coenzyme Q10 deficiency, primary, 4 | . | | | 136 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COQ9 CL E G H | 57017 | 25302 | OMIM:614654 | Coenzyme Q10 deficiency, primary, 5 | . | | | 44 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040282 - Frequent | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CRAT CL E G H | 1384 | 2342 | OMIM:617917 | Neurodegeneration with brain iron accumulation 8 | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:617915 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | HP:0040284 - Very rare | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | . | | | 159 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CTSF CL E G H | 8722 | 2531 | OMIM:615362 | Ceroid lipofuscinosis, neuronal, 13 | . | | | 20 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | | | | 38 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CYFIP2 CL E G H | 26999 | 13760 | OMIM:618008 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CYP27A1 CL E G H | 1593 | 2605 | ORPHA:909 | Cerebrotendinous xanthomatosis | HP:0040283 - Occasional | | | 114 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DAB1 CL E G H | 1600 | 2661 | OMIM:615945 | Spinocerebellar ataxia 37 | . | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DEGS1 CL E G H | 8560 | 13709 | OMIM:618404 | Leukodystrophy, hypomyelinating, 18 | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | . | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DLG4 CL E G H | 1742 | 2903 | OMIM:618793 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62 | | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | . | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DNAJC3 CL E G H | 5611 | 9439 | ORPHA:445062 | Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040283 - Occasional | | | 94 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:604121 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant | . | | | 145 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DOHH CL E G H | 83475 | 28662 | OMIM:620066 | | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | | | | 27 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | EEF2 CL E G H | 1938 | 3214 | OMIM:609306 | Spinocerebellar ataxia 26 | . | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | EEF2 CL E G H | 1938 | 3214 | ORPHA:101112 | Spinocerebellar ataxia type 26 | HP:0040282 - Frequent | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | . | | | 62 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ELOVL5 CL E G H | 60481 | 21308 | OMIM:615957 | Spinocerebellar ataxia 38 | . | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ELOVL5 CL E G H | 60481 | 21308 | ORPHA:423296 | Spinocerebellar ataxia type 38 | HP:0040282 - Frequent | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | HP:0040284 - Very rare | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | . | | | 38 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040282 - Frequent | | | 76 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FA2H CL E G H | 79152 | 21197 | OMIM:612319 | Spastic paraplegia 35, autosomal recessive | . | | | 76 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | HP:0040283 - Occasional | | | 7 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | . | | | 36 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FAT2 CL E G H | 2196 | 3596 | OMIM:617769 | Spinocerebellar ataxia 45 | . | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | HP:0040283 - Occasional | | | 384 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FCSK CL E G H | 197258 | 29500 | OMIM:618324 | Congenital disorder of glycosylation with defective fucosylation 2 | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040283 - Occasional | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FGF12 CL E G H | 2257 | 3668 | OMIM:617166 | Epileptic encephalopathy, early infantile, 47 | . | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FGF14 CL E G H | 2259 | 3671 | OMIM:193003 | Nystagmus 4, congenital, autosomal dominant | | | | 47 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FGF14 CL E G H | 2259 | 3671 | ORPHA:98764 | Spinocerebellar ataxia type 27 | HP:0040283 - Occasional | | | 47 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:606612 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5 | . | | | 157 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 184 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | | | | 30 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FOXRED1 CL E G H | 55572 | 26927 | OMIM:618241 | Mitochondrial complex I deficiency, nuclear type 19 | . | | | 61 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | . | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040282 - Frequent | | | 30 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GEMIN5 CL E G H | 25929 | 20043 | OMIM:619333 | NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GFAP CL E G H | 2670 | 4235 | ORPHA:363717 | Alexander disease type I | | | | 188 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GJB1 CL E G H | 2705 | 4283 | OMIM:302800 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | HP:0040283 - Occasional | | | 107 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | | | | 107 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | | | | 69 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GPAA1 CL E G H | 8733 | 4446 | OMIM:617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | HP:0040282 - Frequent | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GRID2 CL E G H | 2895 | 4576 | ORPHA:363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | | | | 18 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GRID2 CL E G H | 2895 | 4576 | OMIM:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 | | | | 18 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GRIK2 CL E G H | 2898 | 4580 | OMIM:619580 | NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS | | | | 32 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:617691 | SPINOCEREBELLAR ATAXIA 44; SCA44 | | | | 8 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GRN CL E G H | 2896 | 4601 | OMIM:614706 | Ceroid lipofuscinosis, neuronal, 11 | . | | | 126 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2A | . | | | 82 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | HP:0040283 - Occasional | | | 16 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:618547 | NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA | | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:233400 | Perrault syndrome 1 | HP:0040283 - Occasional | | | 98 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | HTT CL E G H | 3064 | 4851 | OMIM:143100 | Huntington disease | . | | | 12 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:248111 | Juvenile Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | IBA57 CL E G H | 200205 | 27302 | ORPHA:468661 | Autosomal recessive spastic paraplegia type 74 | HP:0040284 - Very rare | | | 16 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | IFRD1 CL E G H | 3475 | 5456 | ORPHA:98771 | Spinocerebellar ataxia type 18 | HP:0040283 - Occasional | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:206700 | Gillespie syndrome | | | | 177 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:606658 | Spinocerebellar ataxia 15 | . | | | 177 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:98769 | Spinocerebellar ataxia type 15/16 | HP:0040282 - Frequent | | | 177 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | HP:0040282 - Frequent | | | 177 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KAT5 CL E G H | 10524 | 5275 | OMIM:619103 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KATNB1 CL E G H | 10300 | 6217 | OMIM:616212 | Lissencephaly 6, with microcephaly | | | | 10 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 10 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 145 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:37612 | Episodic ataxia type 1 | HP:0040283 - Occasional | | | 145 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCNC1 CL E G H | 3746 | 6233 | OMIM:616187 | Epilepsy, progressive myoclonic 7 | HP:0040283 - Occasional | | | 6 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCNC3 CL E G H | 3748 | 6235 | OMIM:605259 | Spinocerebellar ataxia 13 | . | | | 17 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCNC3 CL E G H | 3748 | 6235 | ORPHA:98768 | Spinocerebellar ataxia type 13 | HP:0040282 - Frequent | | | 17 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCND3 CL E G H | 3752 | 6239 | OMIM:607346 | Spinocerebellar ataxia 19 | . | | | 35 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCND3 CL E G H | 3752 | 6239 | ORPHA:98772 | Spinocerebellar ataxia type 19/22 | HP:0040282 - Frequent | | | 35 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCNJ10 CL E G H | 3766 | 6256 | ORPHA:199343 | EAST syndrome | HP:0040283 - Occasional | | | 121 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCNJ10 CL E G H | 3766 | 6256 | OMIM:612780 | Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance | . | | | 121 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:617643 | Cerebellar atrophy, developmental delay, and seizures | . | | | 114 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | | | | 106 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KCTD7 CL E G H | 154881 | 21957 | ORPHA:263516 | Progressive myoclonic epilepsy type 3 | HP:0040283 - Occasional | | | 106 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:101010 | Autosomal spastic paraplegia type 30 | | | | 276 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | . | | | 276 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KIF1A CL E G H | 547 | 888 | OMIM:610357 | Spastic paraplegia 30, autosomal recessive | . | | | 276 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040284 - Very rare | | | 38 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | KIF1C CL E G H | 10749 | 6317 | OMIM:611302 | Spastic ataxia 2, autosomal recessive | HP:0040283 - Occasional | | | 38 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | L2HGDH CL E G H | 79944 | 20499 | OMIM:236792 | L-2-Hydroxyglutaric aciduria | . | | | 34 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | | | | 411 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:620089 | | | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | LIG3 CL E G H | 3980 | 6600 | OMIM:619780 | MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | LIPT1 CL E G H | 51601 | 29569 | OMIM:616299 | Lipoyltransferase 1 deficiency | . | | | 21 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 165 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | LNPK CL E G H | 80856 | 21610 | OMIM:618090 | Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MAG CL E G H | 4099 | 6783 | OMIM:616680 | Spastic paraplegia 75, autosomal recessive | . | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | | | | 136 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | . | | | 25 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | . | | | 25 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MCOLN1 CL E G H | 57192 | 13356 | OMIM:252650 | Mucolipidosis IV | | | | 78 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | . | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MFF CL E G H | 56947 | 24858 | OMIM:617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | . | | | 17 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 17 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | . | | | 120 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MGME1 CL E G H | 92667 | 16205 | OMIM:615084 | Mitochondrial DNA depletion syndrome 11 | | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MGME1 CL E G H | 92667 | 16205 | ORPHA:352447 | Progressive external ophthalmoplegia-myopathy-emaciation syndrome | HP:0040284 - Very rare | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | | | | 18 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MORC2 CL E G H | 22880 | 23573 | ORPHA:466768 | Autosomal dominant Charcot-Marie-Tooth disease type 2Z | HP:0040284 - Very rare | | | 8 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:619090 | DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN | | | | 8 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040282 - Frequent | | | 532 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MRE11 CL E G H | 4361 | 7230 | OMIM:604391 | Ataxia-Telangiectasia-Like disorder 1 | . | | | 532 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MRPS34 CL E G H | 65993 | 16618 | OMIM:617664 | Combined oxidative phosphorylation deficiency 32 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MTHFS CL E G H | 10588 | 7437 | OMIM:618367 | Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NADK2 CL E G H | 133686 | 26404 | ORPHA:431361 | Progressive encephalopathy with leukodystrophy due to DECR deficiency | HP:0040282 - Frequent | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:616266 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | HP:0040283 - Occasional | | | 48 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NARS2 CL E G H | 79731 | 26274 | OMIM:616239 | Combined oxidative phosphorylation deficiency 24 | . | | | 34 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 96 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NDUFA1 CL E G H | 4694 | 7683 | OMIM:301020 | Mitochondrial complex I deficiency, nuclear type 12 | HP:0040284 - Very rare | | | 7 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NDUFA9 CL E G H | 4704 | 7693 | OMIM:618247 | Mitochondrial complex I deficiency, nuclear type 26 | . | | | 27 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | | | | 50 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NDUFS1 CL E G H | 4719 | 7707 | OMIM:618226 | Mitochondrial complex I deficiency, nuclear type 5 | . | | | 81 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | . | | | 27 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | HP:0040284 - Very rare | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NKX6-2 CL E G H | 84504 | 19321 | OMIM:617560 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | . | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NMNAT1 CL E G H | 64802 | 17877 | OMIM:619260 | SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA | | | | 15 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NOP56 CL E G H | 10528 | 15911 | OMIM:614153 | Spinocerebellar ataxia 36 | | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | . | | | 214 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | OPA3 CL E G H | 80207 | 8142 | ORPHA:67036 | Autosomal dominant optic atrophy and cataract | HP:0040282 - Frequent | | | 163 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PCNA CL E G H | 5111 | 8729 | OMIM:615919 | Ataxia-Telangiectasia-Like disorder 2 | . | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PCNA CL E G H | 5111 | 8729 | ORPHA:438134 | PCNA-related progressive neurodegenerative photosensitivity syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PDYN CL E G H | 5173 | 8820 | OMIM:610245 | Spinocerebellar ataxia 23 | . | | | 52 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | | | | 75 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PEX10 CL E G H | 5192 | 8851 | OMIM:614871 | Peroxisome biogenesis disorder 6B | . | | | 75 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | | | | 59 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614867 | Peroxisome biogenesis disorder 5B | . | | | 82 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | | | | 98 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:488635 | Early-onset epilepsy-intellectual disability-brain anomalies syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIK3R5 CL E G H | 23533 | 30035 | OMIM:615217 | Ataxia-Oculomotor apraxia 3 | . | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:35069 | Infantile neuroaxonal dystrophy | HP:0040281 - Very frequent | | | 133 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | . | | | 133 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PLD3 CL E G H | 23646 | 17158 | OMIM:617770 | Spinocerebellar ataxia 46 | . | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | . | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PMPCA CL E G H | 23203 | 18667 | ORPHA:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | HP:0040282 - Frequent | | | 7 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PMPCB CL E G H | 9512 | 9119 | OMIM:617954 | Multiple mitochondrial dysfunctions syndrome 6 | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:616267 | Ataxia-Oculomotor apraxia 4 | . | | | 244 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 244 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PNKP CL E G H | 11284 | 9154 | OMIM:613402 | Microcephaly, seizures, and developmental delay | | | | 244 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PNPLA6 CL E G H | 10908 | 16268 | ORPHA:139480 | Autosomal recessive spastic paraplegia type 39 | HP:0040283 - Occasional | | | 103 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | | | | 103 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:612020 | Spastic paraplegia 39, autosomal recessive | HP:0040283 - Occasional | | | 103 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PNPT1 CL E G H | 87178 | 23166 | OMIM:608703 | Spinocerebellar ataxia 25 | . | | | 60 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | | | | 60 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:203700 | Mitochondrial DNA depletion syndrome 4A (Alpers type) | . | | | 464 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLG CL E G H | 5428 | 9179 | OMIM:258450 | Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive | | | | 464 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLG2 CL E G H | 11232 | 9180 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 45 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:610131 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | HP:0040283 - Occasional | | | 45 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLR1C CL E G H | 9533 | 20194 | OMIM:616494 | Leukodystrophy, hypomyelinating, 11 | HP:0040283 - Occasional | | | 38 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:619742 | CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I | | | | 67 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | . | | | 67 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POLR3K CL E G H | 51728 | 14121 | OMIM:619310 | LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370980 | Congenital muscular dystrophy without intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PPP2R2B CL E G H | 5521 | 9305 | OMIM:604326 | Spinocerebellar ataxia 12 | . | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040282 - Frequent | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PRDX3 CL E G H | 10935 | 9354 | OMIM:619862 | | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PRKCG CL E G H | 5582 | 9402 | OMIM:605361 | Spinocerebellar ataxia 14 | . | | | 83 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PRKCG CL E G H | 5582 | 9402 | ORPHA:98763 | Spinocerebellar ataxia type 14 | | | | 83 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PRNP CL E G H | 5621 | 9449 | OMIM:137440 | Gerstmann-Straussler disease | . | | | 69 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PRRT2 CL E G H | 112476 | 30500 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 94 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PTRH2 CL E G H | 51651 | 24265 | OMIM:616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | . | | | 6 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 334 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | REPS1 CL E G H | 85021 | 15578 | OMIM:617916 | Neurodegeneration with brain iron accumulation 7 | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RNASEH1 CL E G H | 246243 | 18466 | OMIM:616479 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | . | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | . | | | 33 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RNF13 CL E G H | 11342 | 10057 | ORPHA:544503 | RNF13-related severe early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RNF170 CL E G H | 81790 | 25358 | OMIM:619686 | SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85 | | | | 3 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RNF216 CL E G H | 54476 | 21698 | OMIM:212840 | Cerebellar ataxia and hypogonadotropic hypogonadism | . | | | 10 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | HP:0040282 - Frequent | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RRM2B CL E G H | 50484 | 17296 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 125 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RTTN CL E G H | 25914 | 18654 | OMIM:614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | | | | 113 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | RUBCN CL E G H | 9711 | 28991 | OMIM:615705 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15 | | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SAMD9L CL E G H | 219285 | 1349 | ORPHA:2585 | Ataxia-pancytopenia syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:619806 | SPINOCEREBELLAR ATAXIA 49; SCA49 | | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SCARB2 CL E G H | 950 | 1665 | OMIM:254900 | Epilepsy, progressive myoclonic, 4, with or without renal failure | . | | | 77 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:569 | Familial or sporadic hemiplegic migraine | HP:0040283 - Occasional | | | 1053 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 126 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 427 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614306 | Cognitive impairment with or without cerebellar ataxia | | | | 357 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SCYL1 CL E G H | 57410 | 14372 | OMIM:616719 | Spinocerebellar ataxia, autosomal recessive 21 | . | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SDHA CL E G H | 6389 | 10680 | OMIM:619259 | NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA | | | | 304 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | . | | | 66 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SERAC1 CL E G H | 84947 | 21061 | OMIM:614739 | 3-Methylglutaconic aciduria with deafness, encephalopathy, and leigh-like syndrome | . | | | 47 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | | | | 162 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SH3TC2 CL E G H | 79628 | 29427 | ORPHA:99949 | Charcot-Marie-Tooth disease type 4C | HP:0040283 - Occasional | | | 493 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | | | | 67 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC13A3 CL E G H | 64849 | 14430 | OMIM:618384 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:209967 | Episodic ataxia type 6 | HP:0040283 - Occasional | | | 63 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC1A3 CL E G H | 6507 | 10941 | OMIM:612656 | Episodic ataxia, type 6 | | | | 63 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC25A4 CL E G H | 291 | 10990 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 68 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:619303 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E | | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | . | | | 48 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040282 - Frequent | | | 27 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | HP:0040283 - Occasional | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC39A8 CL E G H | 64116 | 20862 | OMIM:616721 | Congenital disorder of glycosylation, type IIN | . | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040282 - Frequent | | | 11 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC44A1 CL E G H | 23446 | 18798 | OMIM:618868 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:618973 | NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC9A1 CL E G H | 6548 | 11071 | OMIM:616291 | Lichtenstein-Knorr syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040281 - Very frequent | | | 93 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SLC9A6 CL E G H | 10479 | 11079 | OMIM:300243 | Mental retardation, x-linked syndromic, Christianson type | | | | 93 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SOD1 CL E G H | 6647 | 11179 | OMIM:618598 | SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP | | | | 53 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SPART CL E G H | 23111 | 18514 | OMIM:275900 | Spastic paraplegia 20, autosomal recessive | . | | | 66 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | HP:0040282 - Frequent | | | 171 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | . | | | 416 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:352403 | Spectrin-associated autosomal recessive cerebellar ataxia | HP:0040282 - Frequent | | | 126 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:600224 | Spinocerebellar ataxia 5 | . | | | 126 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SPTBN2 CL E G H | 6712 | 11276 | ORPHA:98766 | Spinocerebellar ataxia type 5 | HP:0040281 - Very frequent | | | 126 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SPTBN2 CL E G H | 6712 | 11276 | OMIM:615386 | Spinocerebellar ataxia, autosomal recessive 14 | . | | | 126 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:617145 | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset | HP:0040283 - Occasional | | | 62 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SRD5A3 CL E G H | 79644 | 25812 | ORPHA:324737 | SRD5A3-CDG | HP:0040283 - Occasional | | | 80 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:615596 | Congenital disorder of glycosylation, type Iw | . | | | 21 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | STT3A CL E G H | 3703 | 6172 | ORPHA:370921 | STT3A-CDG | HP:0040280 - Obligate | | | 21 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | STT3B CL E G H | 201595 | 30611 | OMIM:615597 | Congenital disorder of glycosylation, type Ix | . | | | 18 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | STT3B CL E G H | 201595 | 30611 | ORPHA:370924 | STT3B-CDG | HP:0040280 - Obligate | | | 18 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040281 - Very frequent | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:618093 | SPINOCEREBELLAR ATAXIA 48; SCA48 | | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | STUB1 CL E G H | 10273 | 11427 | OMIM:615768 | Spinocerebellar ataxia, autosomal recessive 16 | | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | | | | 237 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040281 - Very frequent | | | 1129 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:610743 | Spinocerebellar ataxia, autosomal recessive 8 | . | | | 1129 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SYT14 CL E G H | 255928 | 23143 | ORPHA:284271 | Autosomal recessive cerebellar ataxia-psychomotor delay syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | SYT14 CL E G H | 255928 | 23143 | OMIM:614229 | Spinocerebellar ataxia, autosomal recessive 11 | . | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352582 | Familial infantile myoclonic epilepsy | HP:0040282 - Frequent | | | 271 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | | | | 271 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TBC1D2B CL E G H | 23102 | 29183 | OMIM:619323 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:496756 | Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome | HP:0040282 - Frequent | | | 52 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:617207 | ENCEPHALOPATHY, PROGRESSIVE, WITH AMYOTROPHY AND OPTIC ATROPHY; PEAMO | | | | 52 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | HP:0040282 - Frequent | | | 7 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | | | | 52 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TDP1 CL E G H | 55775 | 18884 | OMIM:607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | . | | | 52 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TECPR2 CL E G H | 9895 | 19957 | ORPHA:320385 | Hereditary sensory and autonomic neuropathy due to TECPR2 mutation | HP:0040283 - Occasional | | | 39 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TGM6 CL E G H | 343641 | 16255 | OMIM:613908 | Spinocerebellar ataxia 35 | . | | | 58 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TGM6 CL E G H | 343641 | 16255 | ORPHA:276193 | Spinocerebellar ataxia type 35 | HP:0040282 - Frequent | | | 58 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TMEM240 CL E G H | 339453 | 25186 | OMIM:607454 | Spinocerebellar ataxia 21 | | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TMX2 CL E G H | 51075 | 30739 | OMIM:618730 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS | | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TOP3A CL E G H | 7156 | 11992 | OMIM:618098 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:128100 | Dystonia 1, torsion, autosomal dominant | | | | 47 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TPP1 CL E G H | 1200 | 2073 | ORPHA:284324 | Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | HP:0040282 - Frequent | | | 203 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:609270 | Spinocerebellar ataxia, autosomal recessive 7 | . | | | 203 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | HP:0040283 - Occasional | | | 27 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TRAPPC4 CL E G H | 51399 | 19943 | OMIM:618741 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, SPASTICITY, AND BRAIN ATROPHY; NEDESBA | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TRMT1 CL E G H | 55621 | 25980 | OMIM:618302 | Intellectual developmental disorder, autosomal recessive 68 | HP:0040284 - Very rare | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TRPC3 CL E G H | 7222 | 12335 | OMIM:616410 | Spinocerebellar ataxia 41 | . | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TRPC3 CL E G H | 7222 | 12335 | ORPHA:458798 | Spinocerebellar ataxia type 41 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | . | | | 84 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TTBK2 CL E G H | 146057 | 19141 | OMIM:604432 | Spinocerebellar ataxia 11 | . | | | 57 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | . | | | 88 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TTPA CL E G H | 7274 | 12404 | OMIM:277460 | VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF | | | | 62 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | HP:0040283 - Occasional | | | 39 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TUBB4A CL E G H | 10382 | 20774 | OMIM:612438 | Leukodystrophy, hypomyelinating, 6 | . | | | 66 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TWNK CL E G H | 56652 | 1160 | ORPHA:254892 | Autosomal dominant progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 113 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | . | | | 13 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617133 | Spinocerebellar ataxia, autosomal recessive 24 | . | | | 13 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | UFM1 CL E G H | 51569 | 20597 | OMIM:617899 | Leukodystrophy, hypomyelinating, 14 | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | VLDLR CL E G H | 7436 | 12698 | OMIM:224050 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 | . | | | 111 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | VPS11 CL E G H | 55823 | 14583 | OMIM:616683 | Leukodystrophy, hypomyelinating, 12 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | VPS11 CL E G H | 55823 | 14583 | ORPHA:466934 | VPS11-related autosomal recessive hypomyelinating leukodystrophy | HP:0040284 - Very rare | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | VPS50 CL E G H | 55610 | 25956 | OMIM:619685 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | VWA3B CL E G H | 200403 | 28385 | OMIM:616948 | Spinocerebellar ataxia, autosomal recessive 22 | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | . | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:619738 | PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3 | | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040282 - Frequent | | | 2 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | HP:0040284 - Very rare | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 | . | | | 27 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:614322 | Spinocerebellar ataxia, autosomal recessive 12 | . | | | 149 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | XRCC1 CL E G H | 7515 | 12828 | OMIM:617633 | Spinocerebellar ataxia, autosomal recessive 26 | . | | | 4 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | | | | 9 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | YIF1B CL E G H | 90522 | 30511 | OMIM:619125 | KAYA-BARAKAT-MASSON SYNDROME; KABAMAS | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | YRDC CL E G H | 79693 | 28905 | OMIM:619609 | GALLOWAY-MOWAT SYNDROME 10; GAMOS10 | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | . | | | 5 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | . | | | 60 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0001272 | HP:0001272 | Cerebellar atrophy | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0001272 | HP:0012080 | Cerebellar granular layer atrophy | 1 | CL E G H | | | | | | | | | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | | | | | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | ARF1 CL E G H | 375 | 652 | OMIM:618185 | Periventricular nodular heterotopia 8 | | | | | | |
HP:0001272 | HP:0007263 | Spinocerebellar atrophy | 1 | ATXN1 CL E G H | 6310 | 10548 | OMIM:164400 | Spinocerebellar ataxia 1 | . | | | 19 | | |
HP:0001272 | HP:0012082 | Cerebellar Purkinje layer atrophy | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040282 - Frequent | | | 1 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | CACNA1A CL E G H | 773 | 1388 | OMIM:108500 | Episodic ataxia, type 2 | . | | | 449 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:97 | Familial paroxysmal ataxia | HP:0040283 - Occasional | | | 449 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | CACNA1G CL E G H | 8913 | 1394 | ORPHA:458803 | Spinocerebellar ataxia type 42 | HP:0040282 - Frequent | | | 32 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | CACNA2D2 CL E G H | 9254 | 1400 | OMIM:618501 | Cerebellar atrophy with seizures and variable developmental delay | . | | | 48 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040283 - Occasional | | | 35 | | |
HP:0001272 | HP:0006879 | Pontocerebellar atrophy | 1 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | . | | | 54 | | |
HP:0001272 | HP:0006879 | Pontocerebellar atrophy | 1 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | HP:0040282 - Frequent | | | 54 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | CHP1 CL E G H | 11261 | 17433 | OMIM:618438 | Spastic ataxia 9, autosomal recessive | HP:0040284 - Very rare | | | | | |
HP:0001272 | HP:0006879 | Pontocerebellar atrophy | 1 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | COX20 CL E G H | 116228 | 26970 | OMIM:619054 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11 | | | | 25 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | CUL4B CL E G H | 8450 | 2555 | OMIM:300354 | Mental retardation, X-linked, syndromic, Cabezas type | HP:0040283 - Occasional | | | 38 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | HP:0040282 - Frequent | | | 4 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | DAB1 CL E G H | 1600 | 2661 | ORPHA:363710 | Spinocerebellar ataxia type 37 | HP:0040282 - Frequent | | | 4 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | DLG4 CL E G H | 1742 | 2903 | OMIM:618793 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62 | | | | 2 | | |
HP:0001272 | HP:0006879 | Pontocerebellar atrophy | 1 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0001272 | HP:0006879 | Pontocerebellar atrophy | 1 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0001272 | HP:0006879 | Pontocerebellar atrophy | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040283 - Occasional | | | 76 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:329308 | Fatty acid hydroxylase-associated neurodegeneration | HP:0040282 - Frequent | | | 76 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | GJB1 CL E G H | 2705 | 4283 | ORPHA:1175 | X-linked progressive cerebellar ataxia | HP:0040282 - Frequent | | | 107 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | GRID2 CL E G H | 2895 | 4576 | ORPHA:363432 | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | HP:0040282 - Frequent | | | 18 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | GRID2 CL E G H | 2895 | 4576 | OMIM:616204 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18 | | | | 18 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | HTT CL E G H | 3064 | 4851 | ORPHA:248111 | Juvenile Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | ITPR1 CL E G H | 3708 | 6180 | ORPHA:208513 | Spinocerebellar ataxia type 29 | HP:0040282 - Frequent | | | 177 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:101010 | Autosomal spastic paraplegia type 30 | HP:0040283 - Occasional | | | 276 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | | | | 276 | | |
HP:0001272 | HP:0006879 | Pontocerebellar atrophy | 1 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040283 - Occasional | | | 411 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 165 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | | | | 25 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | MME CL E G H | 4311 | 7154 | OMIM:617018 | SPINOCEREBELLAR ATAXIA 43; SCA43 | | | | 18 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | MME CL E G H | 4311 | 7154 | ORPHA:497764 | Spinocerebellar ataxia type 43 | HP:0040283 - Occasional | | | 18 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | OPA1 CL E G H | 4976 | 8140 | OMIM:210000 | Behr syndrome | | | | 214 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | PEX10 CL E G H | 5192 | 8851 | ORPHA:247815 | Autosomal recessive ataxia due to PEX10 deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | PEX16 CL E G H | 9409 | 8857 | OMIM:614877 | Peroxisome biogenesis disorder 8B | . | | | 59 | | |
HP:0001272 | HP:0007263 | Spinocerebellar atrophy | 1 | PEX6 CL E G H | 5190 | 8859 | ORPHA:95433 | Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | PIK3R5 CL E G H | 23533 | 30035 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040281 - Very frequent | | | 11 | | |
HP:0001272 | HP:0008278 | Cerebellar cortical atrophy | 1 | PLAA CL E G H | 9373 | 9043 | ORPHA:521426 | PLAA-associated neurodevelopmental disorder | HP:0040282 - Frequent | | | 3 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | PLP1 CL E G H | 5354 | 9086 | OMIM:312080 | Pelizaeus-Merzbacher disease | | | | 60 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | PMPCA CL E G H | 23203 | 18667 | ORPHA:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | HP:0040282 - Frequent | | | 7 | | |
HP:0001272 | HP:0007263 | Spinocerebellar atrophy | 1 | PNPLA6 CL E G H | 10908 | 16268 | OMIM:215470 | Boucher-Neuhauser syndrome | . | | | 103 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | PNPT1 CL E G H | 87178 | 23166 | ORPHA:101111 | Spinocerebellar ataxia type 25 | HP:0040282 - Frequent | | | 60 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:614381 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | | | | 67 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | PRKCG CL E G H | 5582 | 9402 | ORPHA:98763 | Spinocerebellar ataxia type 14 | HP:0040282 - Frequent | | | 83 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | PUM1 CL E G H | 9698 | 14957 | OMIM:617931 | Spinocerebellar ataxia 47 | . | | | 1 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | RFC1 CL E G H | 5981 | 9969 | OMIM:614575 | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | | | | | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | HP:0040282 - Frequent | | | | | |
HP:0001272 | HP:0006879 | Pontocerebellar atrophy | 1 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | SACS CL E G H | 26278 | 10519 | OMIM:270550 | Spastic ataxia, Charlevoix-Saguenay type | | | | 309 | | |
HP:0001272 | HP:0008278 | Cerebellar cortical atrophy | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | SCYL1 CL E G H | 57410 | 14372 | ORPHA:466794 | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | | | | 66 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | SETX CL E G H | 23064 | 445 | ORPHA:64753 | Spinocerebellar ataxia with axonal neuropathy type 2 | HP:0040281 - Very frequent | | | 162 | | |
HP:0001272 | HP:0006879 | Pontocerebellar atrophy | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0001272 | HP:0008278 | Cerebellar cortical atrophy | 1 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040283 - Occasional | | | 53 | | |
HP:0001272 | HP:0008278 | Cerebellar cortical atrophy | 1 | SIL1 CL E G H | 64374 | 24624 | OMIM:248800 | Marinesco-Sjogren syndrome | . | | | 67 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | SLC39A8 CL E G H | 64116 | 20862 | OMIM:616721 | Congenital disorder of glycosylation, type IIN | | | | 11 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040283 - Occasional | | | 237 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | HP:0040283 - Occasional | | | 271 | | |
HP:0001272 | HP:0012082 | Cerebellar Purkinje layer atrophy | 1 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | HP:0040282 - Frequent | | | 7 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | TDP1 CL E G H | 55775 | 18884 | ORPHA:94124 | Spinocerebellar ataxia with axonal neuropathy type 1 | HP:0040282 - Frequent | | | 52 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | TMEM240 CL E G H | 339453 | 25186 | ORPHA:98773 | Spinocerebellar ataxia type 21 | HP:0040282 - Frequent | | | 9 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | TRPC3 CL E G H | 7222 | 12335 | OMIM:616410 | Spinocerebellar ataxia 41 | | | | 1 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | TRPC3 CL E G H | 7222 | 12335 | ORPHA:458798 | Spinocerebellar ataxia type 41 | HP:0040282 - Frequent | | | 1 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | HP:0040283 - Occasional | | | 14 | | |
HP:0001272 | HP:0100275 | Diffuse cerebellar atrophy | 1 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | VPS41 CL E G H | 27072 | 12713 | OMIM:619389 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29 | | | | | | |
HP:0001272 | HP:0006879 | Pontocerebellar atrophy | 1 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | | | | | | |
HP:0001272 | HP:0006855 | Cerebellar vermis atrophy | 1 | XRCC4 CL E G H | 7518 | 12831 | OMIM:616541 | Short stature, microcephaly, and endocrine dysfunction | . | | | 9 | | |
HP:0001272 | HP:0008278 | Cerebellar cortical atrophy | 1 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |