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:0002059 | HP:0002059 | Cerebral atrophy | 0 | AARS1 CL E G H | 16 | 20 | OMIM:616339 | Epileptic encephalopathy, early infantile, 29 | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ABCD4 CL E G H | 5826 | 68 | OMIM:614857 | Methylmalonic aciduria and homocystinuria, Cblj type | HP:0040283 - Occasional | | | 53 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ACER3 CL E G H | 55331 | 16066 | OMIM:617762 | Leukodystrophy, progressive, early childhood-onset | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618468 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE76 | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ACY1 CL E G H | 95 | 177 | OMIM:609924 | Aminoacylase 1 deficiency | . | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 530 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | | | | 530 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ADK CL E G H | 132 | 257 | OMIM:614300 | Hypermethioninemia due to adenosine kinase deficiency | . | | | 26 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ADPRS CL E G H | 54936 | 21304 | OMIM:618170 | Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AGA CL E G H | 175 | 318 | OMIM:208400 | ASPARTYLGLUCOSAMINURIA | . | | | 76 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AIFM1 CL E G H | 9131 | 8768 | ORPHA:83629 | Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | | | | 89 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALG1 CL E G H | 56052 | 18294 | ORPHA:79327 | ALG1-CDG | HP:0040283 - Occasional | | | 58 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALG1 CL E G H | 56052 | 18294 | OMIM:608540 | Congenital disorder of glycosylation, type Ik | . | | | 58 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | . | | | 96 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALG3 CL E G H | 10195 | 23056 | OMIM:601110 | Congenital disorder of glycosylation, type Id | . | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | | | | 46 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | | | | 114 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | | | | 21 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AP1B1 CL E G H | 162 | 554 | OMIM:242150 | Ichthyosiform erythroderma, corneal involvement, and deafness | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:1568 | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome | | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 49 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 48 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | | | | 48 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 41 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | | | | 18 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | | | | 39 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 74 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | | | | 166 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATAD1 CL E G H | 84896 | 25903 | OMIM:618011 | Hyperekplexia 4 | HP:0040284 - Very rare | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP11A CL E G H | 23250 | 13552 | OMIM:619851 | LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | | | | 100 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | | | | 100 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | | | | 100 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 239 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 150 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP6AP2 CL E G H | 10159 | 18305 | OMIM:300423 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH | | | | 36 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | | | | 36 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:618012 | Epileptic encephalopathy, infantile or early childhood, 3 | . | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATP8A2 CL E G H | 51761 | 13533 | OMIM:615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4 | . | | | 24 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | | | | 169 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATRX CL E G H | 546 | 886 | OMIM:301040 | Alpha-Thalassemia/mental retardation syndrome, X-linked | . | | | 169 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ATXN7 CL E G H | 6314 | 10560 | ORPHA:94147 | Spinocerebellar ataxia type 7 | HP:0040282 - Frequent | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | AUH CL E G H | 549 | 890 | OMIM:250950 | 3-methylglutaconic aciduria, type I | . | | | 49 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | | | | 25 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | | | | 25 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BCAP31 CL E G H | 10134 | 16695 | OMIM:300475 | Deafness, dystonia, and cerebral hypomyelination | . | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BCAS3 CL E G H | 54828 | 14347 | OMIM:619641 | HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:124000 | Mitochondrial complex III deficiency, nuclear type 1 | . | | | 72 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | | | | 46 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 276 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | OMIM:615924 | Encephalopathy, progressive, with or without lipodystrophy | . | | | 105 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040283 - Occasional | | | 105 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | | | | 223 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | C9ORF72 CL E G H | 203228 | 28337 | OMIM:105550 | Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 | . | | | 56 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 56 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 56 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 449 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CACNA1B CL E G H | 774 | 1389 | OMIM:618497 | Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements | HP:0040284 - Very rare | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CACNA1E CL E G H | 777 | 1392 | OMIM:618285 | Developmental and epileptic encephalopathy 69 | | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 59 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | 34 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CARS1 CL E G H | 833 | 1493 | OMIM:618891 | MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | | | | 35 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | . | | | 35 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 118 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | | | | 118 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | | | | 6 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | | | | 636 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CDK19 CL E G H | 23097 | 19338 | OMIM:618916 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 405 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 42 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | | | | 42 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 42 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | | | | 15 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | | | | 16 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | | | | 45 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | HP:0040284 - Very rare | | | 45 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLN3 CL E G H | 1201 | 2074 | OMIM:204200 | Ceroid lipofuscinosis, neuronal, 3 | . | | | 216 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | | | | 141 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLN6 CL E G H | 54982 | 2077 | OMIM:204300 | Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive | . | | | 143 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:600143 | Ceroid lipofuscinosis, neuronal, 8 | . | | | 111 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLN8 CL E G H | 2055 | 2079 | OMIM:610003 | Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant | . | | | 111 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLN8 CL E G H | 2055 | 2079 | ORPHA:1947 | Progressive epilepsy-intellectual disability syndrome, Finnish type | HP:0040282 - Frequent | | | 111 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:445038 | 3-methylglutaconic aciduria type 7 | HP:0040282 - Frequent | | | 38 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | . | | | 38 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CNKSR2 CL E G H | 22866 | 19701 | OMIM:301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG | | | | 18 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 18 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | . | | | 9 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COG1 CL E G H | 9382 | 6545 | OMIM:611209 | Congenital disorder of glycosylation, type IIg | | | | 52 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COG2 CL E G H | 22796 | 6546 | ORPHA:435934 | COG2-CDG | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | | | | 67 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:613489 | Congenital disorder of glycosylation, type IIj | . | | | 67 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | | | | 79 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COG5 CL E G H | 10466 | 14857 | OMIM:613612 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I | | | | 79 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COLGALT1 CL E G H | 79709 | 26182 | OMIM:618360 | Brain small vessel disease 3 | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COQ9 CL E G H | 57017 | 25302 | OMIM:614654 | Coenzyme Q10 deficiency, primary, 5 | . | | | 44 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | COX4I1 CL E G H | 1327 | 2265 | OMIM:619060 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CPA6 CL E G H | 57094 | 17245 | OMIM:614418 | FEBRILE SEIZURES, FAMILIAL, 11; FEB11 | | | | 49 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:617976 | Epileptic encephalopathy, early infantile, 63 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CTDP1 CL E G H | 9150 | 2498 | OMIM:604168 | Congenital cataracts, facial dysmorphism, and neuropathy | . | | | 17 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | | | | 17 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CTSD CL E G H | 1509 | 2529 | OMIM:610127 | Ceroid lipofuscinosis, neuronal, 10 | . | | | 159 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CTSF CL E G H | 8722 | 2531 | OMIM:615362 | Ceroid lipofuscinosis, neuronal, 13 | | | | 20 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | | | | 24 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CYFIP2 CL E G H | 26999 | 13760 | OMIM:618008 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | CYP27A1 CL E G H | 1593 | 2605 | OMIM:213700 | Cerebrotendinous xanthomatosis | | | | 114 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002059 | Cerebral 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:0002059 | HP:0002059 | Cerebral atrophy | 0 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | | | | 30 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:251880 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | . | | | 57 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | | | | 57 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 47 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | . | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DHX30 CL E G H | 22907 | 16716 | OMIM:617804 | Neurodevelopmental disorder with severe motor impairment and absent language | . | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 65 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DNAJC3 CL E G H | 5611 | 9439 | OMIM:616192 | Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | . | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral 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:0002059 | HP:0002059 | Cerebral atrophy | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DNM1 CL E G H | 1759 | 2972 | OMIM:616346 | Epileptic encephalopathy, early infantile, 31 | HP:0040283 - Occasional | | | 72 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 72 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | | | | 94 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DNMT1 CL E G H | 1786 | 2976 | ORPHA:314404 | Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DNMT1 CL E G H | 1786 | 2976 | OMIM:614116 | Neuropathy, hereditary sensory, type IE | . | | | 145 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DOCK6 CL E G H | 57572 | 19189 | OMIM:614219 | Adams-Oliver syndrome 2 | HP:0040283 - Occasional | | | 18 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DPYD CL E G H | 1806 | 3012 | OMIM:274270 | Dihydropyrimidine dehydrogenase deficiency | . | | | 144 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | . | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DTYMK CL E G H | 1841 | 3061 | OMIM:619847 | | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DYNC1I2 CL E G H | 1781 | 2964 | OMIM:618492 | Neurodevelopmental disorder with microcephaly and structural brain anomalies | . | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | | | | 134 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | | | | 134 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | | | | 60 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 60 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | | | | 223 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EIF2AK2 CL E G H | 5610 | 9437 | OMIM:618877 | LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | HP:0040283 - Occasional | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EMX2 CL E G H | 2018 | 3341 | OMIM:269160 | SCHIZENCEPHALY | | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | | | | 40 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | | | | 20 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | | | | 106 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | | | | 106 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | | | | 106 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | | | | 54 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | | | | 54 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | | | | 158 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | | | | 83 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | | | | 83 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | | | | 199 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | | | | 33 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EXOSC3 CL E G H | 51010 | 17944 | OMIM:614678 | Pontocerebellar hypoplasia, type 1B | . | | | 38 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FADD CL E G H | 8772 | 3573 | ORPHA:306550 | FADD-related immunodeficiency | HP:0040282 - Frequent | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FADD CL E G H | 8772 | 3573 | OMIM:613759 | INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | . | | | 36 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FASTKD2 CL E G H | 22868 | 29160 | OMIM:618855 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44 | | | | 122 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | | | | 12 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FBXL4 CL E G H | 26235 | 13601 | OMIM:615471 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | . | | | 384 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FGF13 CL E G H | 2258 | 3670 | OMIM:301058 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FH CL E G H | 2271 | 3700 | OMIM:606812 | Fumarase deficiency | . | | | 301 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:2308 | Jacobsen syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | | | | 30 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | | | | 30 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FRRS1L CL E G H | 23732 | 1362 | OMIM:616981 | Epileptic encephalopathy, early infantile, 37 | . | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 44 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | | | | 10 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 10 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 139 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 139 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | | | | 160 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | | | | 160 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:230900 | Gaucher disease, type II | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:352641 | Autosomal recessive cerebellar ataxia with late-onset spasticity | HP:0040283 - Occasional | | | 30 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040282 - Frequent | | | 30 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GBA2 CL E G H | 57704 | 18986 | OMIM:614409 | Spastic paraplegia 46, autosomal recessive | . | | | 30 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GDAP2 CL E G H | 54834 | 18010 | OMIM:618369 | Spinocerebellar ataxia, autosomal recessive 27 | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040283 - Occasional | | | 43 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GJC2 CL E G H | 57165 | 17494 | OMIM:608804 | Leukodystrophy, hypomyelinating, 2 | . | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | . | | | 120 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230650 | Gm1-gangliosidosis, type III | | | | 120 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | HP:0040284 - Very rare | | | 45 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | | | | 6 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GM2A CL E G H | 2760 | 4367 | ORPHA:309246 | GM2 gangliosidosis, AB variant | HP:0040281 - Very frequent | | | 69 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GM2A CL E G H | 2760 | 4367 | OMIM:272750 | Gm2-Gangliosidosis, ab variant | . | | | 69 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 36 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:615473 | Epileptic encephalopathy, early infantile, 17 | . | | | 36 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GNAO1 CL E G H | 2775 | 4389 | OMIM:617493 | Neurodevelopmental disorder with involuntary movements | . | | | 36 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GNAQ CL E G H | 2776 | 4390 | OMIM:185300 | Sturge-Weber syndrome | | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRIA2 CL E G H | 2891 | 4572 | OMIM:618917 | NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | | | | 30 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 108 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | . | | | 108 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | | | | 108 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | | | | 434 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRIN2D CL E G H | 2906 | 4588 | OMIM:617162 | Epileptic encephalopathy, early infantile, 46 | HP:0040284 - Very rare | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 126 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | | | | 126 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 126 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HACE1 CL E G H | 57531 | 21033 | OMIM:616756 | Spastic paraplegia and psychomotor retardation with or without seizures | | | | 10 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 54 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | . | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HEPACAM CL E G H | 220296 | 26361 | OMIM:613925 | Megalencephalic leukoencephalopathy with subcortical cysts 2A | . | | | 82 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | | | | 16 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | | | | 16 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HEXB CL E G H | 3074 | 4879 | ORPHA:309162 | Sandhoff disease, juvenile form | | | | 80 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HIC1 CL E G H | 3090 | 4909 | ORPHA:531 | Miller-Dieker syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | HP:0040283 - Occasional | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HNF1B CL E G H | 6928 | 11630 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | | | | 90 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | | | | 113 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:218040 | Costello syndrome | . | | | 113 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040282 - Frequent | | | 19 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | | | | 19 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | | | | 345 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HTRA2 CL E G H | 27429 | 14348 | OMIM:617248 | 3-methylglutaconic aciduria, type VIII | . | | | 39 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 12 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HTT CL E G H | 3064 | 4851 | OMIM:617435 | Lopes-Maciel-Rodan syndrome | . | | | 12 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | . | | | 98 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | . | | | 28 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | | | | 52 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | IRF2BPL CL E G H | 64207 | 14282 | OMIM:618088 | Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ITPA CL E G H | 3704 | 6176 | OMIM:616647 | Epileptic encephalopathy, early infantile, 35 | . | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | JPH3 CL E G H | 57338 | 14203 | ORPHA:98934 | Huntington disease-like 2 | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KANK1 CL E G H | 23189 | 19309 | OMIM:612900 | CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2 | | | | 26 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 145 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:439218 | KCNQ2-related epileptic encephalopathy | HP:0040283 - Occasional | | | 528 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | | | | 321 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KCTD7 CL E G H | 154881 | 21957 | OMIM:611726 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | | | | 106 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KCTD7 CL E G H | 154881 | 21957 | ORPHA:263516 | Progressive myoclonic epilepsy type 3 | HP:0040283 - Occasional | | | 106 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | | | | 53 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KIF1A CL E G H | 547 | 888 | OMIM:614255 | Mental retardation, autosomal dominant 9 | HP:0040283 - Occasional | | | 276 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | | | | 276 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KIF1C CL E G H | 10749 | 6317 | ORPHA:397946 | Autosomal spastic paraplegia type 58 | HP:0040284 - Very rare | | | 38 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:166024 | Multiple epiphyseal dysplasia, Al-Gazali type | HP:0040283 - Occasional | | | 167 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | | | | 660 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 196 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 196 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LAGE3 CL E G H | 8270 | 26058 | OMIM:301006 | Galloway-Mowat syndrome 2, X-linked | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LHX1 CL E G H | 3975 | 6593 | ORPHA:261265 | 17q12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LIAS CL E G H | 11019 | 16429 | OMIM:614462 | Hyperglycinemia, lactic acidosis, and seizures | HP:0040283 - Occasional | | | 31 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LONP1 CL E G H | 9361 | 9479 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040282 - Frequent | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 221 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LSM11 CL E G H | 134353 | 30860 | OMIM:619486 | AICARDI-GOUTIERES SYNDROME 8; AGS8 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | LYRM7 CL E G H | 90624 | 28072 | OMIM:615838 | Mitochondrial complex III deficiency, nuclear type 8 | . | | | 10 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | | | | 21 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | | | | 136 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | | | | 136 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | | | | 136 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 134 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | | | | 178 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 140 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 140 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MAPT CL E G H | 4137 | 6893 | OMIM:601104 | Supranuclear palsy, progressive, 1 | | | | 140 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MARS2 CL E G H | 92935 | 25133 | ORPHA:314603 | Autosomal recessive spastic ataxia with leukoencephalopathy | | | | 25 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:616430 | Combined oxidative phosphorylation deficiency 25 | . | | | 25 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | | | | 25 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | | | | 22 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | | | | 950 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MECR CL E G H | 51102 | 19691 | ORPHA:508093 | MEPAN syndrome | | | | 6 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MED17 CL E G H | 9440 | 2375 | OMIM:613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | | | | 23 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MED27 CL E G H | 9442 | 2377 | OMIM:619286 | NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | | | | 132 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | . | | | 120 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MINPP1 CL E G H | 9562 | 7102 | OMIM:619527 | PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16 | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | 101 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | | | | 50 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MOCS1 CL E G H | 4337 | 7190 | OMIM:252150 | Molybdenum cofactor deficiency, complementation group A | . | | | 96 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | . | | | 26 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | . | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MORC2 CL E G H | 22880 | 23573 | OMIM:619090 | DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN | | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MPDU1 CL E G H | 9526 | 7207 | OMIM:609180 | Congenital disorder of glycosylation, type IF | . | | | 32 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | | | | 9 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | | | | 9 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MRM2 CL E G H | 29960 | 16352 | OMIM:618567 | MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MTR CL E G H | 4548 | 7468 | OMIM:250940 | Homocystinuria-megaloblastic anemia, cblg Complementation type | . | | | 217 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MTRR CL E G H | 4552 | 7473 | OMIM:236270 | Homocystinuria-megaloblastic anemia, cbl E type | . | | | 88 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:29 | Mevalonic aciduria | | | | 150 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:33445 | Neuroectodermal melanolysosomal disease | | | | 35 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | | | | 516 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | | | | 516 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | MYT1L CL E G H | 23040 | 7623 | OMIM:616521 | Mental retardation, autosomal dominant 39 | | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NACC1 CL E G H | 112939 | 20967 | OMIM:617393 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination | . | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NACC1 CL E G H | 112939 | 20967 | ORPHA:500545 | Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NADK2 CL E G H | 133686 | 26404 | OMIM:616034 | 2,4-Dienoyl-Coa reductase deficiency | . | | | 14 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NAGA CL E G H | 4668 | 7631 | OMIM:609242 | Kanzaki disease | . | | | 47 | | |
HP:0002059 | HP:0002059 | Cerebral 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:0002059 | HP:0002059 | Cerebral atrophy | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NAXD CL E G H | 55739 | 25576 | OMIM:618321 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | | | | 96 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | | | | 39 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NDUFA2 CL E G H | 4695 | 7685 | OMIM:618235 | Mitochondrial complex I deficiency, nuclear type 13 | . | | | 19 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NDUFA9 CL E G H | 4704 | 7693 | OMIM:618247 | Mitochondrial complex I deficiency, nuclear type 26 | . | | | 27 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | | | | 101 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | | | | 52 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040281 - Very frequent | | | 32 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | | | | 494 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NKX6-2 CL E G H | 84504 | 19321 | ORPHA:527497 | NKX6-2-related autosomal recessive hypomyelinating leukodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral 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:0002059 | HP:0002059 | Cerebral atrophy | 0 | NODAL CL E G H | 4838 | 7865 | OMIM:270100 | Heterotaxy, visceral, 5 | | | | 45 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NOVA2 CL E G H | 4858 | 7887 | OMIM:618859 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NRROS CL E G H | 375387 | 24613 | OMIM:618875 | SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 544 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NUP214 CL E G H | 8021 | 8064 | OMIM:618426 | Encephalopathy, acute, infection-induced, susceptibility to, 9 | . | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NUS1 CL E G H | 116150 | 21042 | OMIM:617082 | Congenital disorder of glycosylation, type IAA | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | NUTM2B-AS1 CL E G H | 101060691 | 51204 | OMIM:618637 | OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OCLN CL E G H | 100506658 | 8104 | ORPHA:1229 | Congenital intrauterine infection-like syndrome | | | | 23 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OGDHL CL E G H | 55753 | 25590 | OMIM:619701 | YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | | | | 55 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OSTM1 CL E G H | 28962 | 21652 | ORPHA:85179 | Infantile osteopetrosis with neuroaxonal dysplasia | HP:0040282 - Frequent | | | 73 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:531 | Miller-Dieker syndrome | | | | 231 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 26 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PCCA CL E G H | 5095 | 8653 | OMIM:606054 | Propionic acidemia | . | | | 96 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PCCB CL E G H | 5096 | 8654 | OMIM:606054 | Propionic acidemia | . | | | 92 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | | | | 352 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PCK1 CL E G H | 5105 | 8724 | OMIM:261680 | Phosphoenolpyruvate carboxykinase deficiency, cytosolic | . | | | 53 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PCYT2 CL E G H | 5833 | 8756 | OMIM:618770 | SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PDHA1 CL E G H | 5160 | 8806 | OMIM:312170 | Pyruvate dehydrogenase e1-alpha deficiency | . | | | 88 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PDHA1 CL E G H | 5160 | 8806 | ORPHA:79243 | Pyruvate dehydrogenase E1-alpha deficiency | HP:0040282 - Frequent | | | 88 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PDHX CL E G H | 8050 | 21350 | ORPHA:255182 | Pyruvate dehydrogenase E3-binding protein deficiency | HP:0040284 - Very rare | | | 98 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | | | | 40 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | | | | 72 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PGAP1 CL E G H | 80055 | 25712 | ORPHA:401820 | Autosomal recessive spastic paraplegia type 67 | | | | 20 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PGAP2 CL E G H | 27315 | 17893 | OMIM:614207 | Hyperphosphatasia with mental retardation syndrome 3 | HP:0040283 - Occasional | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGG CL E G H | 54872 | 25985 | OMIM:616917 | Mental retardation, autosomal recessive 53 | . | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | | | | 36 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | . | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PITRM1 CL E G H | 10531 | 17663 | OMIM:619405 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR30 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | | | | 133 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | . | | | 133 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:610217 | Neurodegeneration with brain iron accumulation 2B | . | | | 133 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | | | | 133 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PLK4 CL E G H | 10733 | 11397 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | . | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PMPCA CL E G H | 23203 | 18667 | ORPHA:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 244 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | HP:0040284 - Very rare | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POLG CL E G H | 5428 | 9179 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 464 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 138 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | | | | 138 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | | | | 67 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | | | | 221 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | | | | 221 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PPP2R2B CL E G H | 5521 | 9305 | OMIM:604326 | Spinocerebellar ataxia 12 | | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040282 - Frequent | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PPP3CA CL E G H | 5530 | 9314 | OMIM:617711 | Epileptic encephalopathy, infantile or early childhood, 1 | . | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PPT1 CL E G H | 5538 | 9325 | OMIM:256730 | Ceroid lipofuscinosis, neuronal, 1 | . | | | 172 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | . | | | 28 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | | | | 148 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PRKN CL E G H | 5071 | 8607 | OMIM:600116 | Parkinson disease, juvenile, type 2 | | | | 138 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | | | | 69 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | | | | 81 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | | | | 241 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 241 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 241 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 241 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 59 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PSPH CL E G H | 5723 | 9577 | OMIM:614023 | Phosphoserine phosphatase deficiency | HP:0040283 - Occasional | | | 54 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PTCD3 CL E G H | 55037 | 24717 | OMIM:619057 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PUF60 CL E G H | 22827 | 17042 | OMIM:615583 | Verheij syndrome | . | | | 19 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PUS3 CL E G H | 83480 | 25461 | OMIM:617051 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | . | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | QARS1 CL E G H | 5859 | 9751 | OMIM:615760 | Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | | | | 85 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | | | | 85 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | | | | 90 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | | | | 90 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | . | | | 90 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:401830 | Autosomal recessive spastic paraplegia type 69 | | | | 135 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | | | | 135 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | | | | 135 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | | | | 25 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | . | | | 93 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RBL2 CL E G H | 5934 | 9894 | OMIM:619690 | BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | REPS1 CL E G H | 85021 | 15578 | OMIM:617916 | Neurodegeneration with brain iron accumulation 7 | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | | | | 16 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | HP:0040283 - Occasional | | | 92 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | | | | 26 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | . | | | 33 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RNF216 CL E G H | 54476 | 21698 | OMIM:212840 | Cerebellar ataxia and hypogonadotropic hypogonadism | . | | | 10 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ROGDI CL E G H | 79641 | 29478 | OMIM:226750 | Kohlschutter-Tonz syndrome | . | | | 57 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | | | | 65 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 77 | | |
HP:0002059 | HP:0002059 | Cerebral 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:0002059 | HP:0002059 | Cerebral atrophy | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:607208 | Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) | . | | | 1053 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 1053 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 126 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 126 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 427 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 427 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 70 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614558 | Epileptic encephalopathy, early infantile, 13 | HP:0040283 - Occasional | | | 357 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 357 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 318 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCO2 CL E G H | 9997 | 10604 | OMIM:604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 | | | | 40 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SEPSECS CL E G H | 51091 | 30605 | OMIM:613811 | Pontocerebellar hypoplasia, type 2D | . | | | 66 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SERPINI1 CL E G H | 5274 | 8943 | OMIM:604218 | Encephalopathy, familial, with neuroserpin inclusion bodies | . | | | 28 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | | | | 143 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SHH CL E G H | 6469 | 10848 | OMIM:269160 | SCHIZENCEPHALY | | | | 67 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SIX3 CL E G H | 6496 | 10889 | OMIM:269160 | SCHIZENCEPHALY | | | | 32 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | | | | 150 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC12A5 CL E G H | 57468 | 13818 | OMIM:616645 | Epileptic encephalopathy, early infantile, 34 | | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC1A2 CL E G H | 6506 | 10940 | OMIM:617105 | Epileptic encephalopathy, early infantile, 41 | . | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC1A4 CL E G H | 6509 | 10942 | OMIM:616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | . | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | | | | 88 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | | | | 88 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 166 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC25A22 CL E G H | 79751 | 19954 | OMIM:609304 | Epileptic encephalopathy, early infantile, 3 | . | | | 166 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | . | | | 255 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC33A1 CL E G H | 9197 | 95 | OMIM:614482 | Congenital cataracts, hearing loss, and neurodegeneration | . | | | 48 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC35A2 CL E G H | 7355 | 11022 | OMIM:300896 | Congenital disorder of glycosylation, type IIm | | | | 27 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040282 - Frequent | | | 71 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC39A14 CL E G H | 23516 | 20858 | ORPHA:521406 | Dystonia-parkinsonism-hypermanganesemia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC39A14 CL E G H | 23516 | 20858 | OMIM:617013 | Hypermanganesemia with dystonia 2 | HP:0040283 - Occasional | | | 5 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | | | | 55 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC39A8 CL E G H | 64116 | 20862 | OMIM:616721 | Congenital disorder of glycosylation, type IIN | HP:0040283 - Occasional | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | | | | 11 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:618973 | NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | | | | 93 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | | | | 135 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | | | | 91 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | . | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 65 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | | | | 14 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | | 19 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | | | | 287 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | | | | 287 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | | | | 28 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | | | | 171 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | | | | 171 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | . | | | 416 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 62 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | | | | 62 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | STAG1 CL E G H | 10274 | 11354 | OMIM:617635 | Mental retardation, autosomal dominant 47 | HP:0040284 - Very rare | | | 9 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | STAMBP CL E G H | 10617 | 16950 | OMIM:614261 | Microcephaly-Capillary malformation syndrome | . | | | 24 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | STX1B CL E G H | 112755 | 18539 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 9 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | STXBP1 CL E G H | 6812 | 11444 | OMIM:612164 | Epileptic encephalopathy, early infantile, 4 | . | | | 237 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SUCLA2 CL E G H | 8803 | 11448 | OMIM:612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | . | | | 66 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SUCLG1 CL E G H | 8802 | 11449 | ORPHA:17 | Fatal infantile lactic acidosis with methylmalonic aciduria | HP:0040282 - Frequent | | | 60 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SUCLG1 CL E G H | 8802 | 11449 | OMIM:245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | . | | | 60 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SUOX CL E G H | 6821 | 11460 | OMIM:272300 | SULFOCYSTEINURIA | | | | 40 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 9 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 123 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TAF2 CL E G H | 6873 | 11536 | OMIM:615599 | Mental retardation, autosomal recessive 40 | | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TAF2 CL E G H | 6873 | 11536 | ORPHA:397951 | Microcephaly-thin corpus callosum-intellectual disability syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TANGO2 CL E G H | 128989 | 25439 | OMIM:616878 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | | | | 12 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | | | | 28 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | | | | 15 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | . | | | 271 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:615338 | Epileptic encephalopathy, early infantile, 16 | . | | | 271 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | | | | 271 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | | | | 16 | | |
HP:0002059 | HP:0002059 | Cerebral 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:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | . | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | | | | 20 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | | | | 7 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:258860 | Orofaciodigital syndrome IV | . | | | 31 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | | | | 31 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TDP1 CL E G H | 55775 | 18884 | OMIM:607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 | . | | | 52 | | |
HP:0002059 | HP:0002059 | Cerebral 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:0002059 | HP:0002059 | Cerebral atrophy | 0 | TECPR2 CL E G H | 9895 | 19957 | OMIM:615031 | Spastic paraplegia 49, autosomal recessive | . | | | 39 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 238 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TIAM1 CL E G H | 7074 | 11805 | OMIM:619908 | | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TIMM50 CL E G H | 92609 | 23656 | ORPHA:505216 | 3-methylglutaconic aciduria type 9 | HP:0040281 - Very frequent | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TIMM50 CL E G H | 92609 | 23656 | OMIM:617698 | 3-methylglutaconic aciduria, type IX | . | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | | | | 60 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TK2 CL E G H | 7084 | 11831 | ORPHA:254886 | Autosomal recessive progressive external ophthalmoplegia | HP:0040283 - Occasional | | | 103 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TK2 CL E G H | 7084 | 11831 | OMIM:609560 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | . | | | 103 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | | | | 6 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | | | | 63 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TMX2 CL E G H | 51075 | 30739 | OMIM:618730 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TP53RK CL E G H | 112858 | 16197 | OMIM:617730 | Galloway-Mowat syndrome 4 | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TPI1 CL E G H | 7167 | 12009 | OMIM:615512 | Triosephosphate isomerase deficiency | | | | 28 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TPP1 CL E G H | 1200 | 2073 | OMIM:204500 | Ceroid lipofuscinosis, neuronal, 2 | . | | | 203 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRAF7 CL E G H | 84231 | 20456 | OMIM:618164 | Cardiac, facial, and digital anomalies with developmental delay | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | ORPHA:369847 | Intellectual disability-hyperkinetic movement-truncal ataxia syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRAPPC11 CL E G H | 60684 | 25751 | OMIM:615356 | Muscular dystrophy, limb-girdle, autosomal recessive 18 | HP:0040284 - Very rare | | | 27 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRAPPC2L CL E G H | 51693 | 30887 | OMIM:618331 | Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | | | | 158 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 31 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | | | | 31 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | | | | 31 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 31 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | . | | | 56 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRIT1 CL E G H | 54802 | 20286 | OMIM:617873 | Combined oxidative phosphorylation deficiency 35 | . | | | 12 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRNT1 CL E G H | 51095 | 17341 | OMIM:616084 | SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD | | | | 28 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TSEN15 CL E G H | 116461 | 16791 | OMIM:617026 | Pontocerebellar hypoplasia, type 2F | | | | 3 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | HP:0040283 - Occasional | | | 84 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | | | | 102 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TTC19 CL E G H | 54902 | 26006 | OMIM:615157 | Mitochondrial complex III deficiency, nuclear type 2 | . | | | 88 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TUBGCP4 CL E G H | 27229 | 16691 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | | | | 14 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TUBGCP6 CL E G H | 85378 | 18127 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | | | | 61 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TUBGCP6 CL E G H | 85378 | 18127 | OMIM:251270 | Microcephaly and chorioretinopathy, autosomal recessive, 1 | . | | | 61 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:609286 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | . | | | 113 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | | | | 22 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | . | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UBTF CL E G H | 7343 | 12511 | ORPHA:500180 | Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder | HP:0040281 - Very frequent | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UCHL1 CL E G H | 7345 | 12513 | OMIM:615491 | Spastic paraplegia 79, autosomal recessive | . | | | 21 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UFM1 CL E G H | 51569 | 20597 | OMIM:617899 | Leukodystrophy, hypomyelinating, 14 | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | HP:0040283 - Occasional | | | 23 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | | | | 173 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | | | | 78 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | | | | 777 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | | | | 63 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 63 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | | | | 130 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | | | | 8 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | | | | 37 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VPS53 CL E G H | 55275 | 25608 | OMIM:615851 | Pontocerebellar hypoplasia, type 2E | | | | 26 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0002059 | HP:0002059 | Cerebral 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:0002059 | HP:0002059 | Cerebral atrophy | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040282 - Frequent | | | 2 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | WDR45 CL E G H | 11152 | 28912 | ORPHA:329284 | Beta-propeller protein-associated neurodegeneration | HP:0040282 - Frequent | | | 51 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | WDR45 CL E G H | 11152 | 28912 | OMIM:300894 | Neurodegeneration with brain iron accumulation 5 | . | | | 51 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | | | | 389 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | . | | | 389 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | | | | 155 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | WIPI2 CL E G H | 26100 | 32225 | OMIM:618453 | Intellectual developmental disorder with short stature and variable skeletal anomalies | . | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | WWOX CL E G H | 51741 | 12799 | OMIM:616211 | Epileptic encephalopathy, early infantile, 28 | HP:0040283 - Occasional | | | 149 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 149 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | | | | 34 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | | | | 86 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | YIF1B CL E G H | 90522 | 30511 | OMIM:619125 | KAYA-BARAKAT-MASSON SYNDROME; KABAMAS | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | YRDC CL E G H | 79693 | 28905 | OMIM:619609 | GALLOWAY-MOWAT SYNDROME 10; GAMOS10 | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:531 | Miller-Dieker syndrome | | | | 14 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ZNF335 CL E G H | 63925 | 15807 | OMIM:615095 | Microcephaly 10, primary, autosomal recessive | . | | | 60 | | |
HP:0002059 | HP:0002059 | Cerebral atrophy | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | . | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ABCA7 CL E G H | 10347 | 37 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ACO2 CL E G H | 50 | 118 | OMIM:614559 | INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD | | | | 60 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 123 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 530 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 530 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:447760 | Autosomal recessive spastic paraplegia type 9B | HP:0040283 - Occasional | | | 89 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616586 | Spastic paraplegia 9B, autosomal recessive | | | | 89 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ALS2 CL E G H | 57679 | 443 | OMIM:606353 | Primary lateral sclerosis, juvenile | . | | | 114 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | AMPD2 CL E G H | 271 | 469 | OMIM:615809 | Pontocerebellar hypoplasia, type 9 | . | | | 21 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | AP1S2 CL E G H | 8905 | 560 | ORPHA:1568 | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 49 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 48 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | AP4E1 CL E G H | 23431 | 573 | OMIM:613744 | Spastic paraplegia 51, autosomal recessive | . | | | 48 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 41 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040282 - Frequent | | | 18 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | APOE CL E G H | 348 | 613 | OMIM:607822 | Alzheimer disease 3 | . | | | 39 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | APP CL E G H | 351 | 620 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 74 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:2508 | Corpus callosum agenesis-abnormal genitalia syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | ARX CL E G H | 170302 | 18060 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:314632 | ATP13A2-related juvenile neuronal ceroid lipofuscinosis | HP:0040282 - Frequent | | | 100 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:513436 | Autosomal recessive spastic paraplegia type 78 | HP:0040281 - Very frequent | | | 100 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ATP13A2 CL E G H | 23400 | 30213 | ORPHA:306674 | Kufor-Rakeb syndrome | HP:0040282 - Frequent | | | 100 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ATP13A2 CL E G H | 23400 | 30213 | OMIM:617225 | SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78 | | | | 100 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | ATP1A3 CL E G H | 478 | 801 | OMIM:619606 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99 | | | | 150 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | ATP6AP2 CL E G H | 10159 | 18305 | ORPHA:363654 | X-linked parkinsonism-spasticity syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ATRX CL E G H | 546 | 886 | ORPHA:847 | Alpha-thalassemia-X-linked intellectual disability syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | B4GALNT1 CL E G H | 2583 | 4117 | ORPHA:101006 | Autosomal recessive spastic paraplegia type 26 | HP:0040282 - Frequent | | | 25 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | B4GALNT1 CL E G H | 2583 | 4117 | OMIM:609195 | Spastic paraplegia 26, autosomal recessive | . | | | 25 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | BCAP31 CL E G H | 10134 | 16695 | ORPHA:369939 | Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | . | | | 46 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | BRAF CL E G H | 673 | 1097 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 276 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | . | | | 276 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | BTD CL E G H | 686 | 1122 | OMIM:253260 | Biotinidase deficiencymultiple carboxylase deficiency, late-onset | . | | | 223 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 56 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 56 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CACNA1E CL E G H | 777 | 1392 | OMIM:618285 | Developmental and epileptic encephalopathy 69 | . | | | 11 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040284 - Very rare | | | 34 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | CARS2 CL E G H | 79587 | 25695 | ORPHA:477774 | Combined oxidative phosphorylation defect type 27 | HP:0040282 - Frequent | | | 35 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CARS2 CL E G H | 79587 | 25695 | OMIM:616672 | Combined oxidative phosphorylation deficiency 27 | | | | 35 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 118 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040282 - Frequent | | | 118 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CDH23 CL E G H | 64072 | 13733 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 636 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 405 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CHCHD10 CL E G H | 400916 | 15559 | OMIM:615911 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 42 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CHMP2B CL E G H | 25978 | 24537 | OMIM:600795 | Frontotemporal dementia and/or amytrophic lateral sclerosis 7 | . | | | 42 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 42 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 42 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CIB2 CL E G H | 10518 | 24579 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 15 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CISD2 CL E G H | 493856 | 24212 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CIZ1 CL E G H | 25792 | 16744 | ORPHA:420492 | Adult-onset cervical dystonia, DYT23 type | HP:0040284 - Very rare | | | 16 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CLCN4 CL E G H | 1183 | 2022 | ORPHA:485350 | CLCN4-related X-linked intellectual disability syndrome | HP:0040282 - Frequent | | | 45 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CLCN4 CL E G H | 1183 | 2022 | OMIM:300114 | Raynaud-Claes syndrome | HP:0040284 - Very rare | | | 45 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | HP:0040282 - Frequent | | | 141 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | . | | | 7 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CNKSR2 CL E G H | 22866 | 19701 | OMIM:301008 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG | | | | 18 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | COG2 CL E G H | 22796 | 6546 | ORPHA:435934 | COG2-CDG | HP:0040281 - Very frequent | | | 2 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | COG2 CL E G H | 22796 | 6546 | OMIM:617395 | Congenital disorder of glycosylation, type IIq | . | | | 2 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | COG4 CL E G H | 25839 | 18620 | ORPHA:263501 | COG4-CDG | HP:0040282 - Frequent | | | 67 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | COQ2 CL E G H | 27235 | 25223 | OMIM:607426 | Coenzyme Q10 deficiency, primary, 1 | | | | 54 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CPA6 CL E G H | 57094 | 17245 | OMIM:614418 | FEBRILE SEIZURES, FAMILIAL, 11; FEB11 | | | | 49 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:617976 | Epileptic encephalopathy, early infantile, 63 | HP:0040284 - Very rare | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CTDP1 CL E G H | 9150 | 2498 | ORPHA:48431 | Congenital cataracts-facial dysmorphism-neuropathy syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | CTSF CL E G H | 8722 | 2531 | OMIM:615362 | Ceroid lipofuscinosis, neuronal, 13 | . | | | 20 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CWC27 CL E G H | 10283 | 10664 | ORPHA:166035 | Brachydactyly-short stature-retinitis pigmentosa syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | | | | 24 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | DCDC2 CL E G H | 51473 | 18141 | ORPHA:84081 | Senior-Boichis syndrome | | | | 8 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | DGUOK CL E G H | 1716 | 2858 | OMIM:617070 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | . | | | 57 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 65 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | DMXL2 CL E G H | 23312 | 2938 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | DNAJC13 CL E G H | 23317 | 30343 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | DNM1L CL E G H | 10059 | 2973 | ORPHA:330050 | DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040283 - Occasional | | | 94 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040283 - Occasional | | | 38 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040282 - Frequent | | | 134 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | DYRK1A CL E G H | 1859 | 3091 | OMIM:614104 | Mental retardation, autosomal dominant 7 | | | | 134 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EIF4G1 CL E G H | 1981 | 3296 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ELOVL4 CL E G H | 6785 | 14415 | OMIM:133190 | Spinocerebellar ataxia 34 | | | | 62 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EMX2 CL E G H | 2018 | 3341 | OMIM:269160 | SCHIZENCEPHALY | | | | 7 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ESPN CL E G H | 83715 | 13281 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 33 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | . | | | 4 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040283 - Occasional | | | 76 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | . | | | 36 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | FARS2 CL E G H | 10667 | 21062 | OMIM:614946 | Combined oxidative phosphorylation deficiency 14 | | | | 36 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | FBLN1 CL E G H | 2192 | 3600 | ORPHA:404451 | FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040283 - Occasional | | | 30 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:93256 | Fragile X-associated tremor/ataxia syndrome | HP:0040281 - Very frequent | | | 30 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GABRA5 CL E G H | 2558 | 4079 | OMIM:618559 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 10 | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 10 | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 139 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | GALC CL E G H | 2581 | 4115 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 160 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | GALC CL E G H | 2581 | 4115 | OMIM:245200 | Krabbe disease | . | | | 160 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GBA2 CL E G H | 57704 | 18986 | ORPHA:320391 | Autosomal recessive spastic paraplegia type 46 | HP:0040282 - Frequent | | | 30 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GIGYF2 CL E G H | 26058 | 11960 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 8 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040282 - Frequent | | | 120 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230650 | Gm1-gangliosidosis, type III | . | | | 120 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GLYCTK CL E G H | 132158 | 24247 | OMIM:220120 | D-GLYCERIC ACIDURIA | . | | | 6 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | GNAO1 CL E G H | 2775 | 4389 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 36 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GNAQ CL E G H | 2776 | 4390 | OMIM:185300 | Sturge-Weber syndrome | . | | | 7 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GON7 CL E G H | 84520 | 20356 | OMIM:619603 | GALLOWAY-MOWAT SYNDROME 9; GAMOS9 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | | | | 30 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GRIA4 CL E G H | 2893 | 4574 | OMIM:617864 | Neurodevelopmental disorder with or without seizures and gait abnormalities | . | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | GRIN1 CL E G H | 2902 | 4584 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | HP:0040284 - Very rare | | | 108 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | GRIN2A CL E G H | 2903 | 4585 | ORPHA:289266 | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | HP:0040283 - Occasional | | | 434 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | GRM7 CL E G H | 2917 | 4599 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | GRN CL E G H | 2896 | 4601 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 126 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GRN CL E G H | 2896 | 4601 | OMIM:607485 | Frontotemporal lobar degeneration with TDP43 inclusions | . | | | 126 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 126 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 126 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | . | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | HCN1 CL E G H | 348980 | 4845 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 54 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | HP:0040283 - Occasional | | | 16 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | HEXB CL E G H | 3074 | 4879 | ORPHA:309155 | Sandhoff disease, infantile form | | | | 80 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | HIC1 CL E G H | 3090 | 4909 | ORPHA:531 | Miller-Dieker syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | HNF1B CL E G H | 6928 | 11630 | OMIM:137920 | Renal cysts and diabetes syndrome | . | | | 90 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:3071 | Costello syndrome | HP:0040282 - Frequent | | | 113 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | HSD17B10 CL E G H | 3028 | 4800 | ORPHA:391428 | HSD10 disease, infantile type | HP:0040283 - Occasional | | | 19 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | HSD17B10 CL E G H | 3028 | 4800 | OMIM:300438 | HSD10 mitochondrial disease | . | | | 19 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | HTRA1 CL E G H | 5654 | 9476 | ORPHA:199354 | Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy | | | | 34 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | IKBKG CL E G H | 8517 | 5961 | ORPHA:464 | Incontinentia pigmenti | HP:0040283 - Occasional | | | 52 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | JPH3 CL E G H | 57338 | 14203 | ORPHA:98934 | Huntington disease-like 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | KCNA1 CL E G H | 3736 | 6218 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 145 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | . | | | 321 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | KDM6A CL E G H | 7403 | 12637 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 53 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 276 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | KMT2D CL E G H | 8085 | 7133 | ORPHA:2322 | Kabuki syndrome | HP:0040282 - Frequent | | | 660 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 196 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 136 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | LIPT2 CL E G H | 387787 | 37216 | OMIM:617668 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | . | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | LRRK2 CL E G H | 120892 | 18618 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 221 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | | | | 136 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309288 | Alpha-mannosidosis, adult form | HP:0040283 - Occasional | | | 136 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MAP2K1 CL E G H | 5604 | 6840 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MAP2K2 CL E G H | 5605 | 6842 | ORPHA:1340 | Cardiofaciocutaneous syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 140 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 140 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 140 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MARS2 CL E G H | 92935 | 25133 | ORPHA:314603 | Autosomal recessive spastic ataxia with leukoencephalopathy | HP:0040282 - Frequent | | | 25 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MARS2 CL E G H | 92935 | 25133 | OMIM:611390 | Spastic ataxia 3, autosomal recessive | . | | | 25 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | | | | 4 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:312750 | Rett syndrome | . | | | 950 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | MED17 CL E G H | 9440 | 2375 | OMIM:613668 | Microcephaly, postnatal progressive, with seizures and brain atrophy | . | | | 23 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | | | | 132 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MINPP1 CL E G H | 9562 | 7102 | OMIM:619527 | PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16 | | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | . | | | 50 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | MOCS2 CL E G H | 4338 | 7193 | OMIM:252160 | Molybdenum cofactor deficiency, complementation group B | | | | 26 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | HP:0040283 - Occasional | | | 9 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MUC1 CL E G H | 4582 | 7508 | OMIM:174000 | Tubulointerstitial kidney disease, autosomal dominant, 2 | . | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MVK CL E G H | 4598 | 7530 | ORPHA:29 | Mevalonic aciduria | HP:0040281 - Very frequent | | | 150 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MYO5A CL E G H | 4644 | 7602 | ORPHA:33445 | Neuroectodermal melanolysosomal disease | HP:0040283 - Occasional | | | 35 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 516 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | MYO7A CL E G H | 4647 | 7606 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 516 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:2177 | Hydranencephaly | HP:0040281 - Very frequent | | | 96 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:649 | Norrie disease | HP:0040283 - Occasional | | | 39 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NDUFA8 CL E G H | 4702 | 7692 | OMIM:619272 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | | | | 101 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | NEUROD2 CL E G H | 4761 | 7763 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:85277 | X-linked intellectual disability, Cantagrel type | HP:0040281 - Very frequent | | | 52 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 494 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NOVA2 CL E G H | 4858 | 7887 | OMIM:618859 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | NUS1 CL E G H | 116150 | 21042 | OMIM:617082 | Congenital disorder of glycosylation, type IAA | . | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | OCLN CL E G H | 100506658 | 8104 | ORPHA:1229 | Congenital intrauterine infection-like syndrome | HP:0040282 - Frequent | | | 23 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | | | | 55 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:531 | Miller-Dieker syndrome | HP:0040281 - Very frequent | | | 231 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PCDH15 CL E G H | 65217 | 14674 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 352 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PCDHGC4 CL E G H | 56098 | 8717 | OMIM:619880 | | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PDZD7 CL E G H | 79955 | 26257 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 40 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | | | | 169 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PEX7 CL E G H | 5191 | 8860 | OMIM:215100 | Rhizomelic chondrodysplasia punctata, type 1 | . | | | 72 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PGAP1 CL E G H | 80055 | 25712 | ORPHA:401820 | Autosomal recessive spastic paraplegia type 67 | HP:0040282 - Frequent | | | 20 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PIGL CL E G H | 9487 | 8966 | ORPHA:3474 | CHIME syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | PIGP CL E G H | 51227 | 3046 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | PIGQ CL E G H | 9091 | 14135 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | . | | | 57 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | PLA2G6 CL E G H | 8398 | 9039 | ORPHA:199351 | Adult-onset dystonia-parkinsonism | HP:0040282 - Frequent | | | 133 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:612953 | Parkinson disease 14, autosomal recessive | . | | | 133 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PLAA CL E G H | 9373 | 9043 | OMIM:617527 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PLK4 CL E G H | 10733 | 11397 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | PMPCA CL E G H | 23203 | 18667 | ORPHA:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | HP:0040282 - Frequent | | | 7 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | PNKP CL E G H | 11284 | 9154 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 244 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | POLG2 CL E G H | 11232 | 9180 | OMIM:619425 | MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B | | | | 45 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 138 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | POLR3A CL E G H | 11128 | 30074 | ORPHA:447896 | Tremor-ataxia-central hypomyelination syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | POLR3B CL E G H | 55703 | 30348 | OMIM:607694 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism | . | | | 67 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 221 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613156 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | . | | | 221 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | | | | 221 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040284 - Very rare | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PPP2R2B CL E G H | 5521 | 9305 | OMIM:604326 | Spinocerebellar ataxia 12 | . | | | 5 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 148 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | HP:0040282 - Frequent | | | 2 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | PRKAR1B CL E G H | 5575 | 9390 | ORPHA:412066 | PRKAR1B-related neurodegenerative dementia with intermediate filaments | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | PSAP CL E G H | 5660 | 9498 | ORPHA:206436 | Infantile Krabbe disease | HP:0040283 - Occasional | | | 81 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:607822 | Alzheimer disease 3 | . | | | 241 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 241 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 241 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 241 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 241 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PSEN2 CL E G H | 5664 | 9509 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 59 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PUS3 CL E G H | 83480 | 25461 | ORPHA:488627 | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | PYCR2 CL E G H | 29920 | 30262 | OMIM:616420 | Leukodystrophy, hypomyelinating, 10 | . | | | 11 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 85 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 90 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:401830 | Autosomal recessive spastic paraplegia type 69 | HP:0040282 - Frequent | | | 135 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:1387 | Cataract-intellectual disability-hypogonadism syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RFT1 CL E G H | 91869 | 30220 | ORPHA:244310 | RFT1-CDG | HP:0040283 - Occasional | | | 92 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RHOBTB2 CL E G H | 23221 | 18756 | OMIM:618004 | Epileptic encephalopathy, early infantile, 64 | . | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RMND1 CL E G H | 55005 | 21176 | OMIM:614922 | Combined oxidative phosphorylation deficiency 11 | . | | | 26 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RNF125 CL E G H | 54941 | 21150 | OMIM:616260 | Tenorio syndrome | . | | | 5 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RPS6KA3 CL E G H | 6197 | 10432 | ORPHA:192 | Coffin-Lowry syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 77 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 1053 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 126 | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 126 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 427 | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 427 | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 318 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SHH CL E G H | 6469 | 10848 | OMIM:269160 | SCHIZENCEPHALY | | | | 67 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | SIK1 CL E G H | 150094 | 11142 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 11 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SIX3 CL E G H | 6496 | 10889 | OMIM:269160 | SCHIZENCEPHALY | | | | 32 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SLC25A15 CL E G H | 10166 | 10985 | ORPHA:415 | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | HP:0040282 - Frequent | | | 88 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SLC25A15 CL E G H | 10166 | 10985 | OMIM:238970 | Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome | . | | | 88 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | SLC25A22 CL E G H | 79751 | 19954 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 166 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | . | | | 71 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040281 - Very frequent | | | 55 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SLC39A8 CL E G H | 64116 | 20862 | ORPHA:468699 | SLC39A8-CDG | HP:0040282 - Frequent | | | 11 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SLC9A6 CL E G H | 10479 | 11079 | ORPHA:85278 | Christianson syndrome | HP:0040282 - Frequent | | | 93 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SNCA CL E G H | 6622 | 11138 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 65 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SNRPN CL E G H | 6638 | 11164 | OMIM:105830 | Angelman syndrome | | | | 37 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SORL1 CL E G H | 6653 | 11185 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040282 - Frequent | | | 287 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SPG11 CL E G H | 80208 | 11226 | OMIM:604360 | Spastic paraplegia 11, autosomal recessive | . | | | 287 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | SPG21 CL E G H | 51324 | 20373 | ORPHA:101001 | Autosomal recessive spastic paraplegia type 21 | HP:0040282 - Frequent | | | 28 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SPG7 CL E G H | 6687 | 11237 | OMIM:607259 | Spastic paraplegia 7, autosomal recessive | . | | | 171 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SPG7 CL E G H | 6687 | 11237 | ORPHA:99013 | Spastic paraplegia type 7 | HP:0040283 - Occasional | | | 171 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SPTAN1 CL E G H | 6709 | 11273 | OMIM:613477 | Epileptic encephalopathy, early infantile, 5 | | | | 416 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | SQSTM1 CL E G H | 8878 | 11280 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 62 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | SQSTM1 CL E G H | 8878 | 11280 | OMIM:616437 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 | . | | | 62 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | STX1B CL E G H | 112755 | 18539 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 9 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:352596 | Progressive myoclonic epilepsy with dystonia | HP:0040283 - Occasional | | | 271 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TBCD CL E G H | 6904 | 11581 | ORPHA:496641 | Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | TBCD CL E G H | 6904 | 11581 | OMIM:617193 | ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT | | | | 16 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TBK1 CL E G H | 29110 | 11584 | OMIM:616439 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 | . | | | 20 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | TBP CL E G H | 6908 | 11588 | OMIM:607136 | Spinocerebellar ataxia 17 | . | | | 7 | | |
HP:0002059 | HP:0007058 | Generalized cerebral atrophy/hypoplasia | 1 | TBP CL E G H | 6908 | 11588 | ORPHA:98759 | Spinocerebellar ataxia type 17 | HP:0040282 - Frequent | | | 7 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040282 - Frequent | | | 31 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 238 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | TIAM1 CL E G H | 7074 | 11805 | OMIM:619908 | | | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | HP:0040282 - Frequent | | | 6 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | | | | | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:84081 | Senior-Boichis syndrome | | | | 166 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040282 - Frequent | | | 63 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TOMM40 CL E G H | 10452 | 18001 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRAK1 CL E G H | 22906 | 29947 | OMIM:618201 | Epileptic encephalopathy, early infantile, 68 | . | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | . | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRAPPC6B CL E G H | 122553 | 23066 | OMIM:617862 | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | . | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 31 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:1020 | Early-onset autosomal dominant Alzheimer disease | HP:0040281 - Very frequent | | | 31 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 31 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 31 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 31 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | TRIM8 CL E G H | 81603 | 15579 | ORPHA:1934 | Early infantile epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TSEN15 CL E G H | 116461 | 16791 | OMIM:617026 | Pontocerebellar hypoplasia, type 2F | HP:0040283 - Occasional | | | 3 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | HP:0040283 - Occasional | | | 102 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TUBGCP4 CL E G H | 27229 | 16691 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TUBGCP6 CL E G H | 85378 | 18127 | ORPHA:2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | HP:0040282 - Frequent | | | 61 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | HP:0040281 - Very frequent | | | 22 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | UBE3A CL E G H | 7337 | 12496 | OMIM:105830 | Angelman syndrome | | | | 278 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | UBTF CL E G H | 7343 | 12511 | OMIM:617672 | Neurodegeneration, childhood-onset, with brain atrophy | . | | | 1 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | UQCRC1 CL E G H | 7384 | 12585 | OMIM:619279 | PARKINSONISM WITH POLYNEUROPATHY; PKNPY | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | USH1C CL E G H | 10083 | 12597 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 173 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | USH1G CL E G H | 124590 | 16356 | ORPHA:231169 | Usher syndrome type 1 | HP:0040283 - Occasional | | | 78 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | USH2A CL E G H | 7399 | 12601 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 777 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | VARS1 CL E G H | 7407 | 12651 | OMIM:617802 | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy | . | | | | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:275864 | Behavioral variant of frontotemporal dementia | HP:0040281 - Very frequent | | | 63 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | | | | 63 | | |
HP:0002059 | HP:0006892 | Frontotemporal cerebral atrophy | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 63 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | | | | 63 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | VPS13C CL E G H | 54832 | 23594 | OMIM:616840 | Parkinson disease 23, autosomal recessive early-onset | . | | | 8 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | VPS16 CL E G H | 64601 | 14584 | OMIM:619291 | DYSTONIA 30; DYT30 | | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | VPS35 CL E G H | 55737 | 13487 | ORPHA:411602 | Hereditary late-onset Parkinson disease | HP:0040283 - Occasional | | | 37 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0002059 | HP:0002506 | Diffuse cerebral atrophy | 1 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | | | | 2 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | WFS1 CL E G H | 7466 | 12762 | ORPHA:3463 | Wolfram syndrome | HP:0040283 - Occasional | | | 389 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | WHRN CL E G H | 25861 | 16361 | ORPHA:231178 | Usher syndrome type 2 | HP:0040283 - Occasional | | | 155 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | YWHAE CL E G H | 7531 | 12851 | ORPHA:531 | Miller-Dieker syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0002059 | HP:0002120 | Cerebral cortical atrophy | 1 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | | | | 3 | | |
HP:0002059 | HP:0100308 | Cerebral cortical hemiatrophy | 2 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0002059 | HP:0100308 | Cerebral cortical hemiatrophy | 2 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040282 - Frequent | | | 123 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | ADARB1 CL E G H | 104 | 226 | OMIM:618862 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS | | | | 1 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | C9ORF72 CL E G H | 203228 | 28337 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | CHMP2B CL E G H | 25978 | 24537 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 42 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | CPA6 CL E G H | 57094 | 17245 | OMIM:614418 | FEBRILE SEIZURES, FAMILIAL, 11; FEB11 | | | | 49 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | CYB5A CL E G H | 1528 | 2570 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 2 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | CYB5R3 CL E G H | 1727 | 2873 | ORPHA:621 | Hereditary methemoglobinemia | HP:0040283 - Occasional | | | 24 | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0002059 | HP:0100308 | Cerebral cortical hemiatrophy | 2 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040283 - Occasional | | | 223 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | GRIA3 CL E G H | 2892 | 4573 | OMIM:300699 | Mental retardation, X-linked 94 | | | | 30 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | GRN CL E G H | 2896 | 4601 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 126 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 63 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 63 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 63 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | MAPT CL E G H | 4137 | 6893 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 140 | | |
HP:0002059 | HP:0100308 | Cerebral cortical hemiatrophy | 2 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0002059 | HP:0100308 | Cerebral cortical hemiatrophy | 2 | MYO5A CL E G H | 4644 | 7602 | ORPHA:33445 | Neuroectodermal melanolysosomal disease | HP:0040283 - Occasional | | | 35 | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | | | | 101 | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 121 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 121 | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 121 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 121 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | PARS2 CL E G H | 25973 | 30563 | OMIM:618437 | Epileptic encephalopathy, early infantile, 75 | | | | 14 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | POMT2 CL E G H | 29954 | 19743 | ORPHA:206559 | POMT2-related limb-girdle muscular dystrophy R14 | HP:0040283 - Occasional | | | 221 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | PSEN1 CL E G H | 5663 | 9508 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 241 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | | | | 15 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 37 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040282 - Frequent | | | 37 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040282 - Frequent | | | 37 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0002059 | HP:0012105 | Occipital cortical atrophy | 2 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040282 - Frequent | | | 37 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | SPG11 CL E G H | 80208 | 11226 | ORPHA:2822 | Autosomal recessive spastic paraplegia type 11 | HP:0040282 - Frequent | | | 287 | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0002059 | HP:0100308 | Cerebral cortical hemiatrophy | 2 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040282 - Frequent | | | 31 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | TMEM106B CL E G H | 54664 | 22407 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | | | |
HP:0002059 | HP:0012104 | Parietal cortical atrophy | 2 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | TREM2 CL E G H | 54209 | 17761 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 31 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | VCP CL E G H | 7415 | 12666 | OMIM:167320 | Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 | . | | | 63 | | |
HP:0002059 | HP:0007112 | Temporal cortical atrophy | 2 | VCP CL E G H | 7415 | 12666 | ORPHA:100070 | Progressive non-fluent aphasia | HP:0040281 - Very frequent | | | 63 | | |
HP:0002059 | HP:0006913 | Frontal cortical atrophy | 2 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040283 - Occasional | | | 130 | | |
HP:0002059 | HP:0410170 | Hippocampal atrophy | 3 | ABCA7 CL E G H | 10347 | 37 | OMIM:608907 | Alzheimer disease 9, susceptibility to | . | | | 3 | | |
HP:0002059 | HP:0410170 | Hippocampal atrophy | 3 | BICRA CL E G H | 29998 | 4332 | OMIM:619325 | COFFIN-SIRIS SYNDROME 12; CSS12 | | | | 2 | | |
HP:0002059 | HP:0410170 | Hippocampal atrophy | 3 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0002059 | HP:0410170 | Hippocampal atrophy | 3 | CPA6 CL E G H | 57094 | 17245 | OMIM:614418 | FEBRILE SEIZURES, FAMILIAL, 11; FEB11 | | | | 49 | | |
HP:0002059 | HP:0410170 | Hippocampal atrophy | 3 | GRM7 CL E G H | 2917 | 4599 | OMIM:618922 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA | | | | 5 | | |
HP:0002059 | HP:0410170 | Hippocampal atrophy | 3 | NEK1 CL E G H | 4750 | 7744 | OMIM:617892 | Amyotrophic lateral sclerosis, susceptibility to, 24 | . | | | 101 | | |
HP:0002059 | HP:0410170 | Hippocampal atrophy | 3 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |