Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebral morphology (HP:0002060)help
Grandparent Node:
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Aplasia/Hypoplasia involving the central nervous system (HP:0002977)help
Grandparent Node:
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Brain atrophy (HP:0012444)help
Parent Node:
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Atrophy/Degeneration affecting the cerebrum (HP:0007369)help
..Starting node
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Cerebral atrophy (HP:0002059)help
Term ID: 2059
Name: Cerebral atrophy
Synonym: Degeneration of cerebrum; Supratentorial atrophy
Definition: Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.
Comments:
Reference: HP:0002059
Genes and Diseases:
 
       Child Nodes:
........expandCerebral cortical atrophy (HP:0002120) help
................... HP:0006913 Frontal cortical atrophy
................... HP:0007112 Temporal cortical atrophy
................... HP:0012104 Parietal cortical atrophy
................... HP:0012105 Occipital cortical atrophy
................... HP:0100308 Cerebral cortical hemiatrophy
........expandDiffuse cerebral atrophy (HP:0002506) help
........expandFrontotemporal cerebral atrophy (HP:0006892) help
........expandGeneralized cerebral atrophy/hypoplasia (HP:0007058) help

 Sister Nodes: 
..expandCerebral cortical neurodegeneration (HP:0006964) help
..expandCerebral degeneration (HP:0007313) help
..expandCorpus callosum atrophy (HP:0007371) help
..expandSubcortical cerebral atrophy (HP:0012157) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002059HP:0002059Cerebral atrophy0AARS1 CL E G H1620OMIM:616339Epileptic encephalopathy, early infantile, 29.
HP:0002059HP:0002059Cerebral atrophy0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002059HP:0002059Cerebral atrophy0ABCA7 CL E G H1034737OMIM:608907Alzheimer disease 9, susceptibility to3
HP:0002059HP:0002059Cerebral atrophy0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer disease3
HP:0002059HP:0002059Cerebral atrophy0ABCD4 CL E G H582668OMIM:614857Methylmalonic aciduria and homocystinuria, Cblj typeHP:0040283 - Occasional53
HP:0002059HP:0002059Cerebral atrophy0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndrome11
HP:0002059HP:0002059Cerebral atrophy0ACER3 CL E G H5533116066OMIM:617762Leukodystrophy, progressive, early childhood-onset.
HP:0002059HP:0002059Cerebral atrophy0ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0002059HP:0002059Cerebral atrophy0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome72
HP:0002059HP:0002059Cerebral atrophy0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndrome123
HP:0002059HP:0002059Cerebral atrophy0ACTL6B CL E G H51412160OMIM:618468DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76; DEE762
HP:0002059HP:0002059Cerebral atrophy0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002059HP:0002059Cerebral atrophy0ACY1 CL E G H95177OMIM:609924Aminoacylase 1 deficiency.13
HP:0002059HP:0002059Cerebral atrophy0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0002059HP:0002059Cerebral atrophy0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0002059HP:0002059Cerebral atrophy0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plus530
HP:0002059HP:0002059Cerebral atrophy0ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2530
HP:0002059HP:0002059Cerebral atrophy0ADK CL E G H132257OMIM:614300Hypermethioninemia due to adenosine kinase deficiency.26
HP:0002059HP:0002059Cerebral atrophy0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0002059HP:0002059Cerebral atrophy0ADPRS CL E G H5493621304OMIM:618170Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
HP:0002059HP:0002059Cerebral atrophy0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0002059HP:0002059Cerebral atrophy0AGA CL E G H175318OMIM:208400ASPARTYLGLUCOSAMINURIA.76
HP:0002059HP:0002059Cerebral atrophy0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0002059HP:0002059Cerebral atrophy0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040282 - Frequent60
HP:0002059HP:0002059Cerebral atrophy0AIMP2 CL E G H796520609OMIM:618006Leukodystrophy, hypomyelinating, 17.1
HP:0002059HP:0002059Cerebral atrophy0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9B89
HP:0002059HP:0002059Cerebral atrophy0ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0002059HP:0002059Cerebral atrophy0ALG1 CL E G H5605218294ORPHA:79327ALG1-CDGHP:0040283 - Occasional58
HP:0002059HP:0002059Cerebral atrophy0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0002059HP:0002059Cerebral atrophy0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040283 - Occasional41
HP:0002059HP:0002059Cerebral atrophy0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0002059HP:0002059Cerebral atrophy0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0002059HP:0002059Cerebral atrophy0ALG3 CL E G H1019523056OMIM:601110Congenital disorder of glycosylation, type Id.37
HP:0002059HP:0002059Cerebral atrophy0ALG8 CL E G H7905323161ORPHA:79325ALG8-CDG46
HP:0002059HP:0002059Cerebral atrophy0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0002059HP:0002059Cerebral atrophy0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0002059HP:0002059Cerebral atrophy0AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 921
HP:0002059HP:0002059Cerebral atrophy0AP1B1 CL E G H162554OMIM:242150Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0002059HP:0002059Cerebral atrophy0AP1S2 CL E G H8905560ORPHA:1568X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome13
HP:0002059HP:0002059Cerebral atrophy0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0002059HP:0002059Cerebral atrophy0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0002059HP:0002059Cerebral atrophy0AP3D1 CL E G H8943568OMIM:617050HERMANSKY-PUDLAK SYNDROME 10; HPS101
HP:0002059HP:0002059Cerebral atrophy0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegia49
HP:0002059HP:0002059Cerebral atrophy0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegia48
HP:0002059HP:0002059Cerebral atrophy0AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive48
HP:0002059HP:0002059Cerebral atrophy0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegia41
HP:0002059HP:0002059Cerebral atrophy0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegia18
HP:0002059HP:0002059Cerebral atrophy0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0002059HP:0002059Cerebral atrophy0APOE CL E G H348613OMIM:607822Alzheimer disease 339
HP:0002059HP:0002059Cerebral atrophy0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer disease74
HP:0002059HP:0002059Cerebral atrophy0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002059HP:0002059Cerebral atrophy0ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndrome166
HP:0002059HP:0002059Cerebral atrophy0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0002059HP:0002059Cerebral atrophy0ATAD1 CL E G H8489625903OMIM:618011Hyperekplexia 4HP:0040284 - Very rare
HP:0002059HP:0002059Cerebral atrophy0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002059HP:0002059Cerebral atrophy0ATN1 CL E G H18223033OMIM:618494Congenital hypotonia, epilepsy, developmental delay, and digital anomalies.16
HP:0002059HP:0002059Cerebral atrophy0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0002059HP:0002059Cerebral atrophy0ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosis100
HP:0002059HP:0002059Cerebral atrophy0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78100
HP:0002059HP:0002059Cerebral atrophy0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0002059HP:0002059Cerebral atrophy0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0002059HP:0002059Cerebral atrophy0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0002059HP:0002059Cerebral atrophy0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0002059HP:0002059Cerebral atrophy0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0002059HP:0002059Cerebral atrophy0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0002059HP:0002059Cerebral atrophy0ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0002059HP:0002059Cerebral atrophy0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0002059HP:0002059Cerebral atrophy0ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndrome36
HP:0002059HP:0002059Cerebral atrophy0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0002059HP:0002059Cerebral atrophy0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002059HP:0002059Cerebral atrophy0ATP8A2 CL E G H5176113533OMIM:615268Cerebellar ataxia, mental retardation, and dysequilibrium syndrome4.24
HP:0002059HP:0002059Cerebral atrophy0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0002059HP:0002059Cerebral atrophy0ATRX CL E G H546886OMIM:301040Alpha-Thalassemia/mental retardation syndrome, X-linked.169
HP:0002059HP:0002059Cerebral atrophy0ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 211
HP:0002059HP:0002059Cerebral atrophy0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0002059HP:0002059Cerebral atrophy0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I.49
HP:0002059HP:0002059Cerebral atrophy0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndrome36
HP:0002059HP:0002059Cerebral atrophy0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0002059HP:0002059Cerebral atrophy0B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 2625
HP:0002059HP:0002059Cerebral atrophy0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive25
HP:0002059HP:0002059Cerebral atrophy0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0BCAP31 CL E G H1013416695OMIM:300475Deafness, dystonia, and cerebral hypomyelination.8
HP:0002059HP:0002059Cerebral atrophy0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome8
HP:0002059HP:0002059Cerebral atrophy0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0002059HP:0002059Cerebral atrophy0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 1.72
HP:0002059HP:0002059Cerebral atrophy0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant46
HP:0002059HP:0002059Cerebral atrophy0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0002059HP:0002059Cerebral atrophy0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0002059HP:0002059Cerebral atrophy0BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndrome276
HP:0002059HP:0002059Cerebral atrophy0BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1276
HP:0002059HP:0002059Cerebral atrophy0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0002059HP:0002059Cerebral atrophy0BSCL2 CL E G H2658015832OMIM:615924Encephalopathy, progressive, with or without lipodystrophy.105
HP:0002059HP:0002059Cerebral atrophy0BSCL2 CL E G H2658015832ORPHA:363400Severe neurodegenerative syndrome with lipodystrophyHP:0040283 - Occasional105
HP:0002059HP:0002059Cerebral atrophy0BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset223
HP:0002059HP:0002059Cerebral atrophy0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 1.56
HP:0002059HP:0002059Cerebral atrophy0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementia56
HP:0002059HP:0002059Cerebral atrophy0C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasia56
HP:0002059HP:0002059Cerebral atrophy0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0002059HP:0002059Cerebral atrophy0CACNA1B CL E G H7741389OMIM:618497Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movementsHP:0040284 - Very rare5
HP:0002059HP:0002059Cerebral atrophy0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0002059HP:0002059Cerebral atrophy0CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 6911
HP:0002059HP:0002059Cerebral atrophy0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0002059HP:0002059Cerebral atrophy0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0002059HP:0002059Cerebral atrophy0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0002059HP:0002059Cerebral atrophy0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002059HP:0002059Cerebral atrophy0CARS1 CL E G H8331493ORPHA:33364Trichothiodystrophy
HP:0002059HP:0002059Cerebral atrophy0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 2735
HP:0002059HP:0002059Cerebral atrophy0CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 27.35
HP:0002059HP:0002059Cerebral atrophy0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0002059HP:0002059Cerebral atrophy0CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm type118
HP:0002059HP:0002059Cerebral atrophy0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0002059HP:0002059Cerebral atrophy0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0002059HP:0002059Cerebral atrophy0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0002059HP:0002059Cerebral atrophy0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1636
HP:0002059HP:0002059Cerebral atrophy0CDK19 CL E G H2309719338OMIM:618916DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0002059HP:0002059Cerebral atrophy0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002059HP:0002059Cerebral atrophy0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0002059HP:0002059Cerebral atrophy0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002059HP:0002059Cerebral atrophy0CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 211
HP:0002059HP:0002059Cerebral atrophy0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementia42
HP:0002059HP:0002059Cerebral atrophy0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0002059HP:0002059Cerebral atrophy0CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasia42
HP:0002059HP:0002059Cerebral atrophy0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 115
HP:0002059HP:0002059Cerebral atrophy0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndrome3
HP:0002059HP:0002059Cerebral atrophy0CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 type16
HP:0002059HP:0002059Cerebral atrophy0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0002059HP:0002059Cerebral atrophy0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndromeHP:0040284 - Very rare45
HP:0002059HP:0002059Cerebral atrophy0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0002059HP:0002059Cerebral atrophy0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002059HP:0002059Cerebral atrophy0CLN5 CL E G H12032076ORPHA:228360CLN5 disease141
HP:0002059HP:0002059Cerebral atrophy0CLN6 CL E G H549822077OMIM:204300Ceroid lipofuscinosis, neuronal, 4A, autosomal recessive.143
HP:0002059HP:0002059Cerebral atrophy0CLN8 CL E G H20552079OMIM:600143Ceroid lipofuscinosis, neuronal, 8.111
HP:0002059HP:0002059Cerebral atrophy0CLN8 CL E G H20552079OMIM:610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant.111
HP:0002059HP:0002059Cerebral atrophy0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0002059HP:0002059Cerebral atrophy0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 107
HP:0002059HP:0002059Cerebral atrophy0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0002059HP:0002059Cerebral atrophy0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia.38
HP:0002059HP:0002059Cerebral atrophy0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002059HP:0002059Cerebral atrophy0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0002059HP:0002059Cerebral atrophy0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0002059HP:0002059Cerebral atrophy0CNTNAP1 CL E G H85068011OMIM:616286Lethal congenital contracture syndrome 7.9
HP:0002059HP:0002059Cerebral atrophy0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0002059HP:0002059Cerebral atrophy0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0002059HP:0002059Cerebral atrophy0COG2 CL E G H227966546ORPHA:435934COG2-CDG2
HP:0002059HP:0002059Cerebral atrophy0COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq2
HP:0002059HP:0002059Cerebral atrophy0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0002059HP:0002059Cerebral atrophy0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj.67
HP:0002059HP:0002059Cerebral atrophy0COG5 CL E G H1046614857ORPHA:263487COG5-CDG79
HP:0002059HP:0002059Cerebral atrophy0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0002059HP:0002059Cerebral atrophy0COG6 CL E G H5751118621OMIM:614576CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L71
HP:0002059HP:0002059Cerebral atrophy0COG7 CL E G H9194918622OMIM:608779Congenital disorder of glycosylation, type IIe.64
HP:0002059HP:0002059Cerebral atrophy0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0002059HP:0002059Cerebral atrophy0COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3.
HP:0002059HP:0002059Cerebral atrophy0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0002059HP:0002059Cerebral atrophy0COQ9 CL E G H5701725302OMIM:614654Coenzyme Q10 deficiency, primary, 5.44
HP:0002059HP:0002059Cerebral atrophy0COX1 CL E G H45127419ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0COX2 CL E G H45137421ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0COX3 CL E G H45147422ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0COX4I1 CL E G H13272265OMIM:619060MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002059HP:0002059Cerebral atrophy0CPA6 CL E G H5709417245OMIM:614418FEBRILE SEIZURES, FAMILIAL, 11; FEB1149
HP:0002059HP:0002059Cerebral atrophy0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 631
HP:0002059HP:0002059Cerebral atrophy0CPSF3 CL E G H516922326OMIM:619876
HP:0002059HP:0002059Cerebral atrophy0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0002059HP:0002059Cerebral atrophy0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0002059HP:0002059Cerebral atrophy0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0002059HP:0002059Cerebral atrophy0CTSD CL E G H15092529OMIM:610127Ceroid lipofuscinosis, neuronal, 10.159
HP:0002059HP:0002059Cerebral atrophy0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 1320
HP:0002059HP:0002059Cerebral atrophy0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0002059HP:0002059Cerebral atrophy0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemia2
HP:0002059HP:0002059Cerebral atrophy0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemia24
HP:0002059HP:0002059Cerebral atrophy0CYFIP2 CL E G H2699913760OMIM:618008EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE651
HP:0002059HP:0002059Cerebral atrophy0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002059HP:0002059Cerebral atrophy0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0002059HP:0002059Cerebral atrophy0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002059HP:0002059Cerebral atrophy0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0002059HP:0002059Cerebral atrophy0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0002059HP:0002059Cerebral atrophy0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosum30
HP:0002059HP:0002059Cerebral atrophy0DGUOK CL E G H17162858OMIM:251880Mitochondrial DNA depletion syndrome 3 (hepatocerebral type).57
HP:0002059HP:0002059Cerebral atrophy0DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 457
HP:0002059HP:0002059Cerebral atrophy0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0002059HP:0002059Cerebral atrophy0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0002059HP:0002059Cerebral atrophy0DHFR CL E G H17192861OMIM:613839Megaloblastic anemia due to dihydrofolate reductase deficiency.7
HP:0002059HP:0002059Cerebral atrophy0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0002059HP:0002059Cerebral atrophy0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndrome65
HP:0002059HP:0002059Cerebral atrophy0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0002059HP:0002059Cerebral atrophy0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0002059HP:0002059Cerebral atrophy0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0002059HP:0002059Cerebral atrophy0DNAJC3 CL E G H56119439OMIM:616192Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus.3
HP:0002059HP:0002059Cerebral atrophy0DNAJC3 CL E G H56119439ORPHA:445062Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndromeHP:0040282 - Frequent3
HP:0002059HP:0002059Cerebral atrophy0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 31HP:0040283 - Occasional72
HP:0002059HP:0002059Cerebral atrophy0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0002059HP:0002059Cerebral atrophy0DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect94
HP:0002059HP:0002059Cerebral atrophy0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1.94
HP:0002059HP:0002059Cerebral atrophy0DNMT1 CL E G H17862976ORPHA:314404Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndromeHP:0040283 - Occasional145
HP:0002059HP:0002059Cerebral atrophy0DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE.145
HP:0002059HP:0002059Cerebral atrophy0DOCK6 CL E G H5757219189OMIM:614219Adams-Oliver syndrome 2HP:0040283 - Occasional18
HP:0002059HP:0002059Cerebral atrophy0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0002059HP:0002059Cerebral atrophy0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0002059HP:0002059Cerebral atrophy0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0002059HP:0002059Cerebral atrophy0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0002059HP:0002059Cerebral atrophy0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0002059HP:0002059Cerebral atrophy0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0002059HP:0002059Cerebral atrophy0DTYMK CL E G H18413061OMIM:619847
HP:0002059HP:0002059Cerebral atrophy0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies.1
HP:0002059HP:0002059Cerebral atrophy0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0002059HP:0002059Cerebral atrophy0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0002059HP:0002059Cerebral atrophy0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0002059HP:0002059Cerebral atrophy0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0002059HP:0002059Cerebral atrophy0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0002059HP:0002059Cerebral atrophy0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0002059HP:0002059Cerebral atrophy0EIF2AK2 CL E G H56109437OMIM:618877LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0002059HP:0002059Cerebral atrophy0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0002059HP:0002059Cerebral atrophy0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0002059HP:0002059Cerebral atrophy0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0002059HP:0002059Cerebral atrophy0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardationHP:0040283 - Occasional5
HP:0002059HP:0002059Cerebral atrophy0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040282 - Frequent5
HP:0002059HP:0002059Cerebral atrophy0EMX2 CL E G H20183341OMIM:269160SCHIZENCEPHALY7
HP:0002059HP:0002059Cerebral atrophy0EPG5 CL E G H5772429331ORPHA:1493Vici syndrome40
HP:0002059HP:0002059Cerebral atrophy0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0002059HP:0002059Cerebral atrophy0ERCC1 CL E G H20673433ORPHA:1466COFS syndrome20
HP:0002059HP:0002059Cerebral atrophy0ERCC2 CL E G H20683434ORPHA:1466COFS syndrome106
HP:0002059HP:0002059Cerebral atrophy0ERCC2 CL E G H20683434ORPHA:33364Trichothiodystrophy106
HP:0002059HP:0002059Cerebral atrophy0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosum106
HP:0002059HP:0002059Cerebral atrophy0ERCC3 CL E G H20713435ORPHA:33364Trichothiodystrophy54
HP:0002059HP:0002059Cerebral atrophy0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosum54
HP:0002059HP:0002059Cerebral atrophy0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosum158
HP:0002059HP:0002059Cerebral atrophy0ERCC5 CL E G H20733437ORPHA:1466COFS syndrome83
HP:0002059HP:0002059Cerebral atrophy0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosum83
HP:0002059HP:0002059Cerebral atrophy0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0002059HP:0002059Cerebral atrophy0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0002059HP:0002059Cerebral atrophy0ERCC6 CL E G H20743438ORPHA:1466COFS syndrome199
HP:0002059HP:0002059Cerebral atrophy0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0002059HP:0002059Cerebral atrophy0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0002059HP:0002059Cerebral atrophy0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 133
HP:0002059HP:0002059Cerebral atrophy0EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0002059HP:0002059Cerebral atrophy0EXOSC1 CL E G H5101317286OMIM:619304PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F
HP:0002059HP:0002059Cerebral atrophy0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0002059HP:0002059Cerebral atrophy0EXOSC3 CL E G H5101017944OMIM:614678Pontocerebellar hypoplasia, type 1B.38
HP:0002059HP:0002059Cerebral atrophy0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002059HP:0002059Cerebral atrophy0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0002059HP:0002059Cerebral atrophy0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0002059HP:0002059Cerebral atrophy0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0002059HP:0002059Cerebral atrophy0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D.
HP:0002059HP:0002059Cerebral atrophy0FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 3576
HP:0002059HP:0002059Cerebral atrophy0FADD CL E G H87723573ORPHA:306550FADD-related immunodeficiencyHP:0040282 - Frequent3
HP:0002059HP:0002059Cerebral atrophy0FADD CL E G H87723573OMIM:613759INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS3
HP:0002059HP:0002059Cerebral atrophy0FAR1 CL E G H8418826222OMIM:616154PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD7
HP:0002059HP:0002059Cerebral atrophy0FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0002059HP:0002059Cerebral atrophy0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications.
HP:0002059HP:0002059Cerebral atrophy0FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0002059HP:0002059Cerebral atrophy0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0002059HP:0002059Cerebral atrophy0FBXL4 CL E G H2623513601OMIM:615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type).384
HP:0002059HP:0002059Cerebral atrophy0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002059HP:0002059Cerebral atrophy0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0002059HP:0002059Cerebral atrophy0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002059HP:0002059Cerebral atrophy0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0002059HP:0002059Cerebral atrophy0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002059HP:0002059Cerebral atrophy0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0002059HP:0002059Cerebral atrophy0FH CL E G H22713700OMIM:606812Fumarase deficiency.301
HP:0002059HP:0002059Cerebral atrophy0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disability157
HP:0002059HP:0002059Cerebral atrophy0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040283 - Occasional8
HP:0002059HP:0002059Cerebral atrophy0FMR1 CL E G H23323775ORPHA:908Fragile X syndrome30
HP:0002059HP:0002059Cerebral atrophy0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0002059HP:0002059Cerebral atrophy0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0002059HP:0002059Cerebral atrophy0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0002059HP:0002059Cerebral atrophy0FRRS1L CL E G H237321362OMIM:616981Epileptic encephalopathy, early infantile, 37.4
HP:0002059HP:0002059Cerebral atrophy0FUCA1 CL E G H25174006OMIM:230000FUCOSIDOSIS.43
HP:0002059HP:0002059Cerebral atrophy0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002059HP:0002059Cerebral atrophy0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0002059HP:0002059Cerebral atrophy0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0002059HP:0002059Cerebral atrophy0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0002059HP:0002059Cerebral atrophy0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002059HP:0002059Cerebral atrophy0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0002059HP:0002059Cerebral atrophy0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0002059HP:0002059Cerebral atrophy0GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plus10
HP:0002059HP:0002059Cerebral atrophy0GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plus139
HP:0002059HP:0002059Cerebral atrophy0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0002059HP:0002059Cerebral atrophy0GAD1 CL E G H25714092OMIM:619124DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE8944
HP:0002059HP:0002059Cerebral atrophy0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0002059HP:0002059Cerebral atrophy0GALC CL E G H25814115OMIM:245200Krabbe disease160
HP:0002059HP:0002059Cerebral atrophy0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0002059HP:0002059Cerebral atrophy0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0002059HP:0002059Cerebral atrophy0GBA2 CL E G H5770418986ORPHA:352641Autosomal recessive cerebellar ataxia with late-onset spasticityHP:0040283 - Occasional30
HP:0002059HP:0002059Cerebral atrophy0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040282 - Frequent30
HP:0002059HP:0002059Cerebral atrophy0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0002059HP:0002059Cerebral atrophy0GDAP2 CL E G H5483418010OMIM:618369Spinocerebellar ataxia, autosomal recessive 27.
HP:0002059HP:0002059Cerebral atrophy0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040283 - Occasional43
HP:0002059HP:0002059Cerebral atrophy0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0002059HP:0002059Cerebral atrophy0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0002059HP:0002059Cerebral atrophy0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1120
HP:0002059HP:0002059Cerebral atrophy0GLB1 CL E G H27204298OMIM:230600Gm1-gangliosidosis, type II.120
HP:0002059HP:0002059Cerebral atrophy0GLB1 CL E G H27204298OMIM:230650Gm1-gangliosidosis, type III120
HP:0002059HP:0002059Cerebral atrophy0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell diseaseHP:0040284 - Very rare45
HP:0002059HP:0002059Cerebral atrophy0GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA6
HP:0002059HP:0002059Cerebral atrophy0GM2A CL E G H27604367ORPHA:309246GM2 gangliosidosis, AB variantHP:0040281 - Very frequent69
HP:0002059HP:0002059Cerebral atrophy0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant.69
HP:0002059HP:0002059Cerebral atrophy0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disability34
HP:0002059HP:0002059Cerebral atrophy0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0002059HP:0002059Cerebral atrophy0GNAO1 CL E G H27754389OMIM:615473Epileptic encephalopathy, early infantile, 17.36
HP:0002059HP:0002059Cerebral atrophy0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements.36
HP:0002059HP:0002059Cerebral atrophy0GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome7
HP:0002059HP:0002059Cerebral atrophy0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0002059HP:0002059Cerebral atrophy0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0002059HP:0002059Cerebral atrophy0GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002059HP:0002059Cerebral atrophy0GOT2 CL E G H28064433OMIM:618721DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0002059HP:0002059Cerebral atrophy0GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0002059HP:0002059Cerebral atrophy0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0002059HP:0002059Cerebral atrophy0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0002059HP:0002059Cerebral atrophy0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0002059HP:0002059Cerebral atrophy0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0002059HP:0002059Cerebral atrophy0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant.108
HP:0002059HP:0002059Cerebral atrophy0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0002059HP:0002059Cerebral atrophy0GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation434
HP:0002059HP:0002059Cerebral atrophy0GRIN2D CL E G H29064588OMIM:617162Epileptic encephalopathy, early infantile, 46HP:0040284 - Very rare2
HP:0002059HP:0002059Cerebral atrophy0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002059HP:0002059Cerebral atrophy0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0002059HP:0002059Cerebral atrophy0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0002059HP:0002059Cerebral atrophy0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementia126
HP:0002059HP:0002059Cerebral atrophy0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions126
HP:0002059HP:0002059Cerebral atrophy0GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasia126
HP:0002059HP:0002059Cerebral atrophy0GTF2E2 CL E G H29614651ORPHA:33364Trichothiodystrophy2
HP:0002059HP:0002059Cerebral atrophy0GTF2H5 CL E G H40467221157ORPHA:33364Trichothiodystrophy3
HP:0002059HP:0002059Cerebral atrophy0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0002059HP:0002059Cerebral atrophy0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0002059HP:0002059Cerebral atrophy0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0002059HP:0002059Cerebral atrophy0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0002059HP:0002059Cerebral atrophy0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002059HP:0002059Cerebral atrophy0HACE1 CL E G H5753121033OMIM:616756Spastic paraplegia and psychomotor retardation with or without seizures10
HP:0002059HP:0002059Cerebral atrophy0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040283 - Occasional10
HP:0002059HP:0002059Cerebral atrophy0HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plus54
HP:0002059HP:0002059Cerebral atrophy0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0002059HP:0002059Cerebral atrophy0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0002059HP:0002059Cerebral atrophy0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0002059HP:0002059Cerebral atrophy0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language.11
HP:0002059HP:0002059Cerebral atrophy0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A.82
HP:0002059HP:0002059Cerebral atrophy0HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardation16
HP:0002059HP:0002059Cerebral atrophy0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0002059HP:0002059Cerebral atrophy0HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0002059HP:0002059Cerebral atrophy0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0002059HP:0002059Cerebral atrophy0HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndrome
HP:0002059HP:0002059Cerebral atrophy0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43HP:0040283 - Occasional13
HP:0002059HP:0002059Cerebral atrophy0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional90
HP:0002059HP:0002059Cerebral atrophy0HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome90
HP:0002059HP:0002059Cerebral atrophy0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0002059HP:0002059Cerebral atrophy0HRAS CL E G H32655173ORPHA:3071Costello syndrome113
HP:0002059HP:0002059Cerebral atrophy0HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040282 - Frequent19
HP:0002059HP:0002059Cerebral atrophy0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0002059HP:0002059Cerebral atrophy0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0002059HP:0002059Cerebral atrophy0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0002059HP:0002059Cerebral atrophy0HTRA2 CL E G H2742914348OMIM:6172483-methylglutaconic aciduria, type VIII.39
HP:0002059HP:0002059Cerebral atrophy0HTT CL E G H30644851ORPHA:399Huntington diseaseHP:0040283 - Occasional12
HP:0002059HP:0002059Cerebral atrophy0HTT CL E G H30644851OMIM:617435Lopes-Maciel-Rodan syndrome.12
HP:0002059HP:0002059Cerebral atrophy0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0002059HP:0002059Cerebral atrophy0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0002059HP:0002059Cerebral atrophy0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 3.16
HP:0002059HP:0002059Cerebral atrophy0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.28
HP:0002059HP:0002059Cerebral atrophy0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0002059HP:0002059Cerebral atrophy0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0002059HP:0002059Cerebral atrophy0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 35.8
HP:0002059HP:0002059Cerebral atrophy0JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 22
HP:0002059HP:0002059Cerebral atrophy0KANK1 CL E G H2318919309OMIM:612900CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ226
HP:0002059HP:0002059Cerebral atrophy0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0002059HP:0002059Cerebral atrophy0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0002059HP:0002059Cerebral atrophy0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0002059HP:0002059Cerebral atrophy0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0002059HP:0002059Cerebral atrophy0KCNMA1 CL E G H37786284OMIM:618729LIANG-WANG SYNDROME; LIWAS114
HP:0002059HP:0002059Cerebral atrophy0KCNQ2 CL E G H37856296ORPHA:439218KCNQ2-related epileptic encephalopathyHP:0040283 - Occasional528
HP:0002059HP:0002059Cerebral atrophy0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14321
HP:0002059HP:0002059Cerebral atrophy0KCTD7 CL E G H15488121957OMIM:611726Epilepsy, progressive myoclonic 3, with or without intracellular inclusions106
HP:0002059HP:0002059Cerebral atrophy0KCTD7 CL E G H15488121957ORPHA:263516Progressive myoclonic epilepsy type 3HP:0040283 - Occasional106
HP:0002059HP:0002059Cerebral atrophy0KDM6A CL E G H740312637ORPHA:2322Kabuki syndrome53
HP:0002059HP:0002059Cerebral atrophy0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0002059HP:0002059Cerebral atrophy0KIF1A CL E G H547888OMIM:614255Mental retardation, autosomal dominant 9HP:0040283 - Occasional276
HP:0002059HP:0002059Cerebral atrophy0KIF1A CL E G H547888ORPHA:2836PEHO syndrome276
HP:0002059HP:0002059Cerebral atrophy0KIF1C CL E G H107496317ORPHA:397946Autosomal spastic paraplegia type 58HP:0040284 - Very rare38
HP:0002059HP:0002059Cerebral atrophy0KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040283 - Occasional167
HP:0002059HP:0002059Cerebral atrophy0KMT2D CL E G H80857133ORPHA:2322Kabuki syndrome660
HP:0002059HP:0002059Cerebral atrophy0KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndrome196
HP:0002059HP:0002059Cerebral atrophy0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0002059HP:0002059Cerebral atrophy0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0002059HP:0002059Cerebral atrophy0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disability136
HP:0002059HP:0002059Cerebral atrophy0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional
HP:0002059HP:0002059Cerebral atrophy0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizuresHP:0040283 - Occasional31
HP:0002059HP:0002059Cerebral atrophy0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities2
HP:0002059HP:0002059Cerebral atrophy0LONP1 CL E G H93619479ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent8
HP:0002059HP:0002059Cerebral atrophy0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0002059HP:0002059Cerebral atrophy0LSM11 CL E G H13435330860OMIM:619486AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0002059HP:0002059Cerebral atrophy0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0002059HP:0002059Cerebral atrophy0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0002059HP:0002059Cerebral atrophy0MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndrome21
HP:0002059HP:0002059Cerebral atrophy0MAF CL E G H40946776OMIM:601088Ayme-Gripp syndromeHP:0040283 - Occasional21
HP:0002059HP:0002059Cerebral atrophy0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0002059HP:0002059Cerebral atrophy0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0002059HP:0002059Cerebral atrophy0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0002059HP:0002059Cerebral atrophy0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0002059HP:0002059Cerebral atrophy0MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult form136
HP:0002059HP:0002059Cerebral atrophy0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile form136
HP:0002059HP:0002059Cerebral atrophy0MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndrome134
HP:0002059HP:0002059Cerebral atrophy0MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndrome178
HP:0002059HP:0002059Cerebral atrophy0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0002059HP:0002059Cerebral atrophy0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementia140
HP:0002059HP:0002059Cerebral atrophy0MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasia140
HP:0002059HP:0002059Cerebral atrophy0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0002059HP:0002059Cerebral atrophy0MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathy25
HP:0002059HP:0002059Cerebral atrophy0MARS2 CL E G H9293525133OMIM:616430Combined oxidative phosphorylation deficiency 25.25
HP:0002059HP:0002059Cerebral atrophy0MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive25
HP:0002059HP:0002059Cerebral atrophy0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0002059HP:0002059Cerebral atrophy0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0002059HP:0002059Cerebral atrophy0MECP2 CL E G H42046990OMIM:312750Rett syndrome950
HP:0002059HP:0002059Cerebral atrophy0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0002059HP:0002059Cerebral atrophy0MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy23
HP:0002059HP:0002059Cerebral atrophy0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0002059HP:0002059Cerebral atrophy0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0002059HP:0002059Cerebral atrophy0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndrome132
HP:0002059HP:0002059Cerebral atrophy0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0002059HP:0002059Cerebral atrophy0MFSD8 CL E G H25647128486OMIM:610951Ceroid lipofuscinosis, neuronal, 7.120
HP:0002059HP:0002059Cerebral atrophy0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0002059HP:0002059Cerebral atrophy0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0002059HP:0002059Cerebral atrophy0MMACHC CL E G H2597424525ORPHA:79282Methylmalonic acidemia with homocystinuria, type cblCHP:0040283 - Occasional101
HP:0002059HP:0002059Cerebral atrophy0MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type101
HP:0002059HP:0002059Cerebral atrophy0MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type50
HP:0002059HP:0002059Cerebral atrophy0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0002059HP:0002059Cerebral atrophy0MOCS1 CL E G H43377190OMIM:252150Molybdenum cofactor deficiency, complementation group A.96
HP:0002059HP:0002059Cerebral atrophy0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B.26
HP:0002059HP:0002059Cerebral atrophy0MOGS CL E G H784124862OMIM:606056Congenital disorder of glycosylation, type IIB.37
HP:0002059HP:0002059Cerebral atrophy0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0002059HP:0002059Cerebral atrophy0MPDU1 CL E G H95267207OMIM:609180Congenital disorder of glycosylation, type IF.32
HP:0002059HP:0002059Cerebral atrophy0MPLKIP CL E G H13664716002ORPHA:33364Trichothiodystrophy9
HP:0002059HP:0002059Cerebral atrophy0MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitive9
HP:0002059HP:0002059Cerebral atrophy0MRM2 CL E G H2996016352OMIM:618567MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0002059HP:0002059Cerebral atrophy0MTR CL E G H45487468OMIM:250940Homocystinuria-megaloblastic anemia, cblg Complementation type.217
HP:0002059HP:0002059Cerebral atrophy0MTRR CL E G H45527473OMIM:236270Homocystinuria-megaloblastic anemia, cbl E type.88
HP:0002059HP:0002059Cerebral atrophy0MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 21
HP:0002059HP:0002059Cerebral atrophy0MVK CL E G H45987530ORPHA:29Mevalonic aciduria150
HP:0002059HP:0002059Cerebral atrophy0MVK CL E G H45987530OMIM:610377Mevalonic aciduria150
HP:0002059HP:0002059Cerebral atrophy0MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal disease35
HP:0002059HP:0002059Cerebral atrophy0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1516
HP:0002059HP:0002059Cerebral atrophy0MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2516
HP:0002059HP:0002059Cerebral atrophy0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0002059HP:0002059Cerebral atrophy0NAA10 CL E G H826018704OMIM:300855Ogden syndrome.23
HP:0002059HP:0002059Cerebral atrophy0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040282 - Frequent23
HP:0002059HP:0002059Cerebral atrophy0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination.1
HP:0002059HP:0002059Cerebral atrophy0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataractHP:0040283 - Occasional1
HP:0002059HP:0002059Cerebral atrophy0NADK2 CL E G H13368626404OMIM:6160342,4-Dienoyl-Coa reductase deficiency.14
HP:0002059HP:0002059Cerebral atrophy0NAGA CL E G H46687631OMIM:609242Kanzaki disease.47
HP:0002059HP:0002059Cerebral atrophy0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delayHP:0040283 - Occasional48
HP:0002059HP:0002059Cerebral atrophy0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0002059HP:0002059Cerebral atrophy0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2.
HP:0002059HP:0002059Cerebral atrophy0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0002059HP:0002059Cerebral atrophy0ND1 CL E G H45357455ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0ND4 CL E G H45387459ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0ND5 CL E G H45407461ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0ND6 CL E G H45417462ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0NDE1 CL E G H5482017619ORPHA:2177Hydranencephaly96
HP:0002059HP:0002059Cerebral atrophy0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002059HP:0002059Cerebral atrophy0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002059HP:0002059Cerebral atrophy0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002059HP:0002059Cerebral atrophy0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0002059HP:0002059Cerebral atrophy0NDUFA2 CL E G H46957685OMIM:618235Mitochondrial complex I deficiency, nuclear type 13.19
HP:0002059HP:0002059Cerebral atrophy0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002059HP:0002059Cerebral atrophy0NDUFA9 CL E G H47047693OMIM:618247Mitochondrial complex I deficiency, nuclear type 26.27
HP:0002059HP:0002059Cerebral atrophy0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002059HP:0002059Cerebral atrophy0NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24101
HP:0002059HP:0002059Cerebral atrophy0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0002059HP:0002059Cerebral atrophy0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0002059HP:0002059Cerebral atrophy0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel type52
HP:0002059HP:0002059Cerebral atrophy0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0002059HP:0002059Cerebral atrophy0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0002059HP:0002059Cerebral atrophy0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040281 - Very frequent32
HP:0002059HP:0002059Cerebral atrophy0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0002059HP:0002059Cerebral atrophy0NKX6-2 CL E G H8450419321ORPHA:527497NKX6-2-related autosomal recessive hypomyelinating leukodystrophyHP:0040283 - Occasional2
HP:0002059HP:0002059Cerebral atrophy0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002059HP:0002059Cerebral atrophy0NODAL CL E G H48387865OMIM:270100Heterotaxy, visceral, 545
HP:0002059HP:0002059Cerebral atrophy0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002059HP:0002059Cerebral atrophy0NRROS CL E G H37538724613OMIM:618875SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS; SENEBAC1
HP:0002059HP:0002059Cerebral atrophy0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0002059HP:0002059Cerebral atrophy0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0002059HP:0002059Cerebral atrophy0NUP214 CL E G H80218064OMIM:618426Encephalopathy, acute, infection-induced, susceptibility to, 9.1
HP:0002059HP:0002059Cerebral atrophy0NUS1 CL E G H11615021042OMIM:617082Congenital disorder of glycosylation, type IAA1
HP:0002059HP:0002059Cerebral atrophy0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0002059HP:0002059Cerebral atrophy0NUTM2B-AS1 CL E G H10106069151204OMIM:618637OCULOPHARYNGEAL MYOPATHY WITH LEUKOENCEPHALOPATHY 1; OPML1
HP:0002059HP:0002059Cerebral atrophy0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0002059HP:0002059Cerebral atrophy0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0002059HP:0002059Cerebral atrophy0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0002059HP:0002059Cerebral atrophy0OCLN CL E G H1005066588104ORPHA:1229Congenital intrauterine infection-like syndrome23
HP:0002059HP:0002059Cerebral atrophy0OFD1 CL E G H84812567OMIM:311200Orofaciodigital syndrome I201
HP:0002059HP:0002059Cerebral atrophy0OGDHL CL E G H5575325590OMIM:619701YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN3
HP:0002059HP:0002059Cerebral atrophy0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0002059HP:0002059Cerebral atrophy0OSGEP CL E G H5564418028OMIM:617729Galloway-Mowat syndrome 3.
HP:0002059HP:0002059Cerebral atrophy0OSTM1 CL E G H2896221652ORPHA:85179Infantile osteopetrosis with neuroaxonal dysplasiaHP:0040282 - Frequent73
HP:0002059HP:0002059Cerebral atrophy0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 5.73
HP:0002059HP:0002059Cerebral atrophy0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome4
HP:0002059HP:0002059Cerebral atrophy0PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndrome231
HP:0002059HP:0002059Cerebral atrophy0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndrome26
HP:0002059HP:0002059Cerebral atrophy0PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0002059HP:0002059Cerebral atrophy0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0002059HP:0002059Cerebral atrophy0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0002059HP:0002059Cerebral atrophy0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0002059HP:0002059Cerebral atrophy0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1352
HP:0002059HP:0002059Cerebral atrophy0PCDHGC4 CL E G H560988717OMIM:619880
HP:0002059HP:0002059Cerebral atrophy0PCK1 CL E G H51058724OMIM:261680Phosphoenolpyruvate carboxykinase deficiency, cytosolic.53
HP:0002059HP:0002059Cerebral atrophy0PCLO CL E G H2744513406OMIM:608027Pontocerebellar hypoplasia, type 3.6
HP:0002059HP:0002059Cerebral atrophy0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0002059HP:0002059Cerebral atrophy0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0002059HP:0002059Cerebral atrophy0PDHA1 CL E G H51608806ORPHA:79243Pyruvate dehydrogenase E1-alpha deficiencyHP:0040282 - Frequent88
HP:0002059HP:0002059Cerebral atrophy0PDHA1 CL E G H51608806OMIM:312170Pyruvate dehydrogenase e1-alpha deficiency.88
HP:0002059HP:0002059Cerebral atrophy0PDHX CL E G H805021350ORPHA:255182Pyruvate dehydrogenase E3-binding protein deficiencyHP:0040284 - Very rare98
HP:0002059HP:0002059Cerebral atrophy0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0002059HP:0002059Cerebral atrophy0PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 240
HP:0002059HP:0002059Cerebral atrophy0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0002059HP:0002059Cerebral atrophy0PEX19 CL E G H58249713OMIM:614886Peroxisome biogenesis disorder 12A (Zellweger).62
HP:0002059HP:0002059Cerebral atrophy0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 172
HP:0002059HP:0002059Cerebral atrophy0PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 6720
HP:0002059HP:0002059Cerebral atrophy0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0002059HP:0002059Cerebral atrophy0PGAP2 CL E G H2731517893OMIM:614207Hyperphosphatasia with mental retardation syndrome 3HP:0040283 - Occasional8
HP:0002059HP:0002059Cerebral atrophy0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0002059HP:0002059Cerebral atrophy0PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 246
HP:0002059HP:0002059Cerebral atrophy0PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0002059HP:0002059Cerebral atrophy0PIGG CL E G H5487225985OMIM:616917Mental retardation, autosomal recessive 53.7
HP:0002059HP:0002059Cerebral atrophy0PIGL CL E G H94878966ORPHA:3474CHIME syndrome36
HP:0002059HP:0002059Cerebral atrophy0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome.36
HP:0002059HP:0002059Cerebral atrophy0PIGN CL E G H235568967ORPHA:2059Fryns syndrome37
HP:0002059HP:0002059Cerebral atrophy0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 1.37
HP:0002059HP:0002059Cerebral atrophy0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0002059HP:0002059Cerebral atrophy0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0002059HP:0002059Cerebral atrophy0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002059HP:0002059Cerebral atrophy0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0002059HP:0002059Cerebral atrophy0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002059HP:0002059Cerebral atrophy0PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation57
HP:0002059HP:0002059Cerebral atrophy0PITRM1 CL E G H1053117663OMIM:619405SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 30; SCAR301
HP:0002059HP:0002059Cerebral atrophy0PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonism133
HP:0002059HP:0002059Cerebral atrophy0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0002059HP:0002059Cerebral atrophy0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0002059HP:0002059Cerebral atrophy0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0002059HP:0002059Cerebral atrophy0PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0002059HP:0002059Cerebral atrophy0PLK4 CL E G H1073311397ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndrome11
HP:0002059HP:0002059Cerebral atrophy0PLK4 CL E G H1073311397OMIM:616171Microcephaly and chorioretinopathy, autosomal recessive, 2.11
HP:0002059HP:0002059Cerebral atrophy0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 37
HP:0002059HP:0002059Cerebral atrophy0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0002059HP:0002059Cerebral atrophy0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0002059HP:0002059Cerebral atrophy0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0002059HP:0002059Cerebral atrophy0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndromeHP:0040284 - Very rare2
HP:0002059HP:0002059Cerebral atrophy0POLG CL E G H54289179ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0002059HP:0002059Cerebral atrophy0POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0002059HP:0002059Cerebral atrophy0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0002059HP:0002059Cerebral atrophy0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0002059HP:0002059Cerebral atrophy0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0002059HP:0002059Cerebral atrophy0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disability213
HP:0002059HP:0002059Cerebral atrophy0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disability221
HP:0002059HP:0002059Cerebral atrophy0POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2221
HP:0002059HP:0002059Cerebral atrophy0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14221
HP:0002059HP:0002059Cerebral atrophy0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0002059HP:0002059Cerebral atrophy0PPFIBP1 CL E G H84969249OMIM:620024
HP:0002059HP:0002059Cerebral atrophy0PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 125
HP:0002059HP:0002059Cerebral atrophy0PPP2R2B CL E G H55219305ORPHA:98762Spinocerebellar ataxia type 12HP:0040282 - Frequent5
HP:0002059HP:0002059Cerebral atrophy0PPP3CA CL E G H55309314OMIM:617711Epileptic encephalopathy, infantile or early childhood, 1.2
HP:0002059HP:0002059Cerebral atrophy0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0002059HP:0002059Cerebral atrophy0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0002059HP:0002059Cerebral atrophy0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28
HP:0002059HP:0002059Cerebral atrophy0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0002059HP:0002059Cerebral atrophy0PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type
HP:0002059HP:0002059Cerebral atrophy0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filaments2
HP:0002059HP:0002059Cerebral atrophy0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0002059HP:0002059Cerebral atrophy0PRKN CL E G H50718607OMIM:600116Parkinson disease, juvenile, type 2138
HP:0002059HP:0002059Cerebral atrophy0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 169
HP:0002059HP:0002059Cerebral atrophy0PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies8
HP:0002059HP:0002059Cerebral atrophy0PRUNE1 CL E G H5849713420ORPHA:544469PRUNE1-related neurological syndrome8
HP:0002059HP:0002059Cerebral atrophy0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0002059HP:0002059Cerebral atrophy0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3241
HP:0002059HP:0002059Cerebral atrophy0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementia241
HP:0002059HP:0002059Cerebral atrophy0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer disease241
HP:0002059HP:0002059Cerebral atrophy0PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasia241
HP:0002059HP:0002059Cerebral atrophy0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer disease59
HP:0002059HP:0002059Cerebral atrophy0PSPH CL E G H57239577OMIM:614023Phosphoserine phosphatase deficiencyHP:0040283 - Occasional54
HP:0002059HP:0002059Cerebral atrophy0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0002059HP:0002059Cerebral atrophy0PUF60 CL E G H2282717042OMIM:615583Verheij syndrome.19
HP:0002059HP:0002059Cerebral atrophy0PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0002059HP:0002059Cerebral atrophy0PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome1
HP:0002059HP:0002059Cerebral atrophy0PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0002059HP:0002059Cerebral atrophy0QARS1 CL E G H58599751OMIM:615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy.
HP:0002059HP:0002059Cerebral atrophy0RAB18 CL E G H2293114244ORPHA:2510Micro syndrome85
HP:0002059HP:0002059Cerebral atrophy0RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 385
HP:0002059HP:0002059Cerebral atrophy0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0002059HP:0002059Cerebral atrophy0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome90
HP:0002059HP:0002059Cerebral atrophy0RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndrome90
HP:0002059HP:0002059Cerebral atrophy0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0002059HP:0002059Cerebral atrophy0RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69135
HP:0002059HP:0002059Cerebral atrophy0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome135
HP:0002059HP:0002059Cerebral atrophy0RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndrome135
HP:0002059HP:0002059Cerebral atrophy0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0002059HP:0002059Cerebral atrophy0RALGAPA1 CL E G H25395917770OMIM:618797NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT1
HP:0002059HP:0002059Cerebral atrophy0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0002059HP:0002059Cerebral atrophy0RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 6.93
HP:0002059HP:0002059Cerebral atrophy0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0002059HP:0002059Cerebral atrophy0REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7.
HP:0002059HP:0002059Cerebral atrophy0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0002059HP:0002059Cerebral atrophy0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0RFT1 CL E G H9186930220ORPHA:244310RFT1-CDGHP:0040283 - Occasional92
HP:0002059HP:0002059Cerebral atrophy0RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 641
HP:0002059HP:0002059Cerebral atrophy0RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 1126
HP:0002059HP:0002059Cerebral atrophy0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 4.33
HP:0002059HP:0002059Cerebral atrophy0RNASEH2B CL E G H7962125671OMIM:610181Aicardi-Goutieres syndrome 234
HP:0002059HP:0002059Cerebral atrophy0RNF113A CL E G H773712974ORPHA:33364Trichothiodystrophy3
HP:0002059HP:0002059Cerebral atrophy0RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome5
HP:0002059HP:0002059Cerebral atrophy0RNF216 CL E G H5447621698OMIM:212840Cerebellar ataxia and hypogonadotropic hypogonadism.10
HP:0002059HP:0002059Cerebral atrophy0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0002059HP:0002059Cerebral atrophy0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002059HP:0002059Cerebral atrophy0ROGDI CL E G H7964129478OMIM:226750Kohlschutter-Tonz syndrome.57
HP:0002059HP:0002059Cerebral atrophy0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndrome65
HP:0002059HP:0002059Cerebral atrophy0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndrome77
HP:0002059HP:0002059Cerebral atrophy0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040283 - Occasional113
HP:0002059HP:0002059Cerebral atrophy0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0002059HP:0002059Cerebral atrophy0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0002059HP:0002059Cerebral atrophy0SCN1A CL E G H632310585OMIM:607208Epileptic encephalopathy, early infantile, 6 (Dravet syndrome).1053
HP:0002059HP:0002059Cerebral atrophy0SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plus1053
HP:0002059HP:0002059Cerebral atrophy0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathy126
HP:0002059HP:0002059Cerebral atrophy0SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plus126
HP:0002059HP:0002059Cerebral atrophy0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathy427
HP:0002059HP:0002059Cerebral atrophy0SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plus427
HP:0002059HP:0002059Cerebral atrophy0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0002059HP:0002059Cerebral atrophy0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13HP:0040283 - Occasional357
HP:0002059HP:0002059Cerebral atrophy0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0002059HP:0002059Cerebral atrophy0SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plus318
HP:0002059HP:0002059Cerebral atrophy0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0002059HP:0002059Cerebral atrophy0SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0002059HP:0002059Cerebral atrophy0SEPSECS CL E G H5109130605OMIM:613811Pontocerebellar hypoplasia, type 2D.66
HP:0002059HP:0002059Cerebral atrophy0SERPINI1 CL E G H52748943OMIM:604218Encephalopathy, familial, with neuroserpin inclusion bodies.28
HP:0002059HP:0002059Cerebral atrophy0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0002059HP:0002059Cerebral atrophy0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0002059HP:0002059Cerebral atrophy0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0002059HP:0002059Cerebral atrophy0SHH CL E G H646910848OMIM:269160SCHIZENCEPHALY67
HP:0002059HP:0002059Cerebral atrophy0SHQ1 CL E G H5516425543OMIM:619922
HP:0002059HP:0002059Cerebral atrophy0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathy11
HP:0002059HP:0002059Cerebral atrophy0SIX3 CL E G H649610889OMIM:269160SCHIZENCEPHALY32
HP:0002059HP:0002059Cerebral atrophy0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0002059HP:0002059Cerebral atrophy0SLC12A5 CL E G H5746813818OMIM:616645Epileptic encephalopathy, early infantile, 348
HP:0002059HP:0002059Cerebral atrophy0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0002059HP:0002059Cerebral atrophy0SLC17A5 CL E G H2650310933OMIM:269920Infantile sialic acid storage disease.78
HP:0002059HP:0002059Cerebral atrophy0SLC1A2 CL E G H650610940OMIM:617105Epileptic encephalopathy, early infantile, 41.3
HP:0002059HP:0002059Cerebral atrophy0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0002059HP:0002059Cerebral atrophy0SLC1A4 CL E G H650910942OMIM:616657Spastic tetraplegia, thin corpus callosum, and progressive microcephaly.4
HP:0002059HP:0002059Cerebral atrophy0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome88
HP:0002059HP:0002059Cerebral atrophy0SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome88
HP:0002059HP:0002059Cerebral atrophy0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathy166
HP:0002059HP:0002059Cerebral atrophy0SLC25A22 CL E G H7975119954OMIM:609304Epileptic encephalopathy, early infantile, 3.166
HP:0002059HP:0002059Cerebral atrophy0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0002059HP:0002059Cerebral atrophy0SLC2A1 CL E G H651311005OMIM:612126Glut1 deficiency syndrome 2.255
HP:0002059HP:0002059Cerebral atrophy0SLC2A3 CL E G H651511007ORPHA:399Huntington diseaseHP:0040283 - Occasional1
HP:0002059HP:0002059Cerebral atrophy0SLC33A1 CL E G H919795OMIM:614482Congenital cataracts, hearing loss, and neurodegeneration.48
HP:0002059HP:0002059Cerebral atrophy0SLC35A2 CL E G H735511022OMIM:300896Congenital disorder of glycosylation, type IIm27
HP:0002059HP:0002059Cerebral atrophy0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0002059HP:0002059Cerebral atrophy0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0002059HP:0002059Cerebral atrophy0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040282 - Frequent71
HP:0002059HP:0002059Cerebral atrophy0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002059HP:0002059Cerebral atrophy0SLC39A14 CL E G H2351620858ORPHA:521406Dystonia-parkinsonism-hypermanganesemia syndromeHP:0040282 - Frequent5
HP:0002059HP:0002059Cerebral atrophy0SLC39A14 CL E G H2351620858OMIM:617013Hypermanganesemia with dystonia 2HP:0040283 - Occasional5
HP:0002059HP:0002059Cerebral atrophy0SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathica55
HP:0002059HP:0002059Cerebral atrophy0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IINHP:0040283 - Occasional11
HP:0002059HP:0002059Cerebral atrophy0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDG11
HP:0002059HP:0002059Cerebral atrophy0SLC5A6 CL E G H888411041OMIM:618973NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002059HP:0002059Cerebral atrophy0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndrome93
HP:0002059HP:0002059Cerebral atrophy0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0002059HP:0002059Cerebral atrophy0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0002059HP:0002059Cerebral atrophy0SMG9 CL E G H5600625763OMIM:616920Heart and brain malformation syndrome.2
HP:0002059HP:0002059Cerebral atrophy0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson disease65
HP:0002059HP:0002059Cerebral atrophy0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0002059HP:0002059Cerebral atrophy0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0002059HP:0002059Cerebral atrophy0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0002059HP:0002059Cerebral atrophy0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0002059HP:0002059Cerebral atrophy0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0002059HP:0002059Cerebral atrophy0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0002059HP:0002059Cerebral atrophy0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer disease3
HP:0002059HP:0002059Cerebral atrophy0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0002059HP:0002059Cerebral atrophy0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome19
HP:0002059HP:0002059Cerebral atrophy0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0002059HP:0002059Cerebral atrophy0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0002059HP:0002059Cerebral atrophy0SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive287
HP:0002059HP:0002059Cerebral atrophy0SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 2128
HP:0002059HP:0002059Cerebral atrophy0SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive171
HP:0002059HP:0002059Cerebral atrophy0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7171
HP:0002059HP:0002059Cerebral atrophy0SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5.416
HP:0002059HP:0002059Cerebral atrophy0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementia62
HP:0002059HP:0002059Cerebral atrophy0SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 362
HP:0002059HP:0002059Cerebral atrophy0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 47HP:0040284 - Very rare9
HP:0002059HP:0002059Cerebral atrophy0STAMBP CL E G H1061716950OMIM:614261Microcephaly-Capillary malformation syndrome.24
HP:0002059HP:0002059Cerebral atrophy0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0002059HP:0002059Cerebral atrophy0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plus9
HP:0002059HP:0002059Cerebral atrophy0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0002059HP:0002059Cerebral atrophy0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0002059HP:0002059Cerebral atrophy0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040282 - Frequent60
HP:0002059HP:0002059Cerebral atrophy0SUCLG1 CL E G H880211449OMIM:245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria).60
HP:0002059HP:0002059Cerebral atrophy0SUMF1 CL E G H28536220376OMIM:272200Multiple sulfatase deficiency.80
HP:0002059HP:0002059Cerebral atrophy0SUOX CL E G H682111460OMIM:272300SULFOCYSTEINURIA40
HP:0002059HP:0002059Cerebral atrophy0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0002059HP:0002059Cerebral atrophy0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0002059HP:0002059Cerebral atrophy0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0002059HP:0002059Cerebral atrophy0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0002059HP:0002059Cerebral atrophy0TAF2 CL E G H687311536OMIM:615599Mental retardation, autosomal recessive 407
HP:0002059HP:0002059Cerebral atrophy0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040283 - Occasional7
HP:0002059HP:0002059Cerebral atrophy0TANGO2 CL E G H12898925439OMIM:616878Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration12
HP:0002059HP:0002059Cerebral atrophy0TARS1 CL E G H689711572ORPHA:33364Trichothiodystrophy
HP:0002059HP:0002059Cerebral atrophy0TARS2 CL E G H8022230740OMIM:615918Combined oxidative phosphorylation deficiency 2128
HP:0002059HP:0002059Cerebral atrophy0TBC1D20 CL E G H12863716133ORPHA:2510Micro syndrome15
HP:0002059HP:0002059Cerebral atrophy0TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0002059HP:0002059Cerebral atrophy0TBC1D24 CL E G H5746529203OMIM:220500Doors syndrome.271
HP:0002059HP:0002059Cerebral atrophy0TBC1D24 CL E G H5746529203OMIM:615338Epileptic encephalopathy, early infantile, 16.271
HP:0002059HP:0002059Cerebral atrophy0TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystonia271
HP:0002059HP:0002059Cerebral atrophy0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0002059HP:0002059Cerebral atrophy0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0002059HP:0002059Cerebral atrophy0TBCK CL E G H9362728261OMIM:616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3.13
HP:0002059HP:0002059Cerebral atrophy0TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 420
HP:0002059HP:0002059Cerebral atrophy0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0002059HP:0002059Cerebral atrophy0TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 177
HP:0002059HP:0002059Cerebral atrophy0TCTN3 CL E G H2612324519OMIM:258860Orofaciodigital syndrome IV.31
HP:0002059HP:0002059Cerebral atrophy0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0002059HP:0002059Cerebral atrophy0TDP1 CL E G H5577518884OMIM:607250Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1.52
HP:0002059HP:0002059Cerebral atrophy0TECPR2 CL E G H989519957ORPHA:320385Hereditary sensory and autonomic neuropathy due to TECPR2 mutationHP:0040283 - Occasional39
HP:0002059HP:0002059Cerebral atrophy0TECPR2 CL E G H989519957OMIM:615031Spastic paraplegia 49, autosomal recessive.39
HP:0002059HP:0002059Cerebral atrophy0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndrome238
HP:0002059HP:0002059Cerebral atrophy0TGFB1 CL E G H704011766OMIM:618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE13
HP:0002059HP:0002059Cerebral atrophy0TIAM1 CL E G H707411805OMIM:6199082
HP:0002059HP:0002059Cerebral atrophy0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0002059HP:0002059Cerebral atrophy0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0002059HP:0002059Cerebral atrophy0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndrome60
HP:0002059HP:0002059Cerebral atrophy0TK2 CL E G H708411831ORPHA:254886Autosomal recessive progressive external ophthalmoplegiaHP:0040283 - Occasional103
HP:0002059HP:0002059Cerebral atrophy0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0002059HP:0002059Cerebral atrophy0TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasia6
HP:0002059HP:0002059Cerebral atrophy0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementia
HP:0002059HP:0002059Cerebral atrophy0TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasia
HP:0002059HP:0002059Cerebral atrophy0TMEM147 CL E G H1043030414OMIM:620075
HP:0002059HP:0002059Cerebral atrophy0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0002059HP:0002059Cerebral atrophy0TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathy63
HP:0002059HP:0002059Cerebral atrophy0TMX2 CL E G H5107530739OMIM:618730NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS2
HP:0002059HP:0002059Cerebral atrophy0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 7.6
HP:0002059HP:0002059Cerebral atrophy0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer disease
HP:0002059HP:0002059Cerebral atrophy0TP53RK CL E G H11285816197OMIM:617730Galloway-Mowat syndrome 4.
HP:0002059HP:0002059Cerebral atrophy0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency28
HP:0002059HP:0002059Cerebral atrophy0TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2.203
HP:0002059HP:0002059Cerebral atrophy0TRAF7 CL E G H8423120456OMIM:618164Cardiac, facial, and digital anomalies with developmental delay.
HP:0002059HP:0002059Cerebral atrophy0TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68
HP:0002059HP:0002059Cerebral atrophy0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002059HP:0002059Cerebral atrophy0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040283 - Occasional27
HP:0002059HP:0002059Cerebral atrophy0TRAPPC11 CL E G H6068425751OMIM:615356Muscular dystrophy, limb-girdle, autosomal recessive 18HP:0040284 - Very rare27
HP:0002059HP:0002059Cerebral atrophy0TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome2
HP:0002059HP:0002059Cerebral atrophy0TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity2
HP:0002059HP:0002059Cerebral atrophy0TRAPPC2L CL E G H5169330887OMIM:618331Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis.
HP:0002059HP:0002059Cerebral atrophy0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002059HP:0002059Cerebral atrophy0TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome158
HP:0002059HP:0002059Cerebral atrophy0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementia31
HP:0002059HP:0002059Cerebral atrophy0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer disease31
HP:0002059HP:0002059Cerebral atrophy0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola disease31
HP:0002059HP:0002059Cerebral atrophy0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0002059HP:0002059Cerebral atrophy0TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasia31
HP:0002059HP:0002059Cerebral atrophy0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 1.56
HP:0002059HP:0002059Cerebral atrophy0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathy1
HP:0002059HP:0002059Cerebral atrophy0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0002059HP:0002059Cerebral atrophy0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 35.12
HP:0002059HP:0002059Cerebral atrophy0TRNF CL E G H45587481ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0TRNH CL E G H45647487ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0002059HP:0002059Cerebral atrophy0TRNW CL E G H45787501ORPHA:550MELAS
HP:0002059HP:0002059Cerebral atrophy0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0002059HP:0002059Cerebral atrophy0TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2F3
HP:0002059HP:0002059Cerebral atrophy0TSEN2 CL E G H8074628422OMIM:612389Pontocerebellar hypoplasia, type 2BHP:0040283 - Occasional84
HP:0002059HP:0002059Cerebral atrophy0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A102
HP:0002059HP:0002059Cerebral atrophy0TTC19 CL E G H5490226006OMIM:615157Mitochondrial complex III deficiency, nuclear type 2.88
HP:0002059HP:0002059Cerebral atrophy0TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002059HP:0002059Cerebral atrophy0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002059HP:0002059Cerebral atrophy0TUBGCP4 CL E G H2722916691ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndrome14
HP:0002059HP:0002059Cerebral atrophy0TUBGCP6 CL E G H8537818127ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndrome61
HP:0002059HP:0002059Cerebral atrophy0TUBGCP6 CL E G H8537818127OMIM:251270Microcephaly and chorioretinopathy, autosomal recessive, 1.61
HP:0002059HP:0002059Cerebral atrophy0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)113
HP:0002059HP:0002059Cerebral atrophy0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3.113
HP:0002059HP:0002059Cerebral atrophy0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola disease22
HP:0002059HP:0002059Cerebral atrophy0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0002059HP:0002059Cerebral atrophy0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0002059HP:0002059Cerebral atrophy0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0002059HP:0002059Cerebral atrophy0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0002059HP:0002059Cerebral atrophy0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0002059HP:0002059Cerebral atrophy0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040281 - Very frequent1
HP:0002059HP:0002059Cerebral atrophy0UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0002059HP:0002059Cerebral atrophy0UCHL1 CL E G H734512513OMIM:615491Spastic paraplegia 79, autosomal recessive.21
HP:0002059HP:0002059Cerebral atrophy0UFM1 CL E G H5156920597OMIM:617899Leukodystrophy, hypomyelinating, 14.
HP:0002059HP:0002059Cerebral atrophy0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002059HP:0002059Cerebral atrophy0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2HP:0040283 - Occasional23
HP:0002059HP:0002059Cerebral atrophy0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002059HP:0002059Cerebral atrophy0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1173
HP:0002059HP:0002059Cerebral atrophy0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 178
HP:0002059HP:0002059Cerebral atrophy0USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2777
HP:0002059HP:0002059Cerebral atrophy0VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0002059HP:0002059Cerebral atrophy0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementia63
HP:0002059HP:0002059Cerebral atrophy0VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0002059HP:0002059Cerebral atrophy0VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasia63
HP:0002059HP:0002059Cerebral atrophy0VPS13A CL E G H232301908ORPHA:2388Choreoacanthocytosis130
HP:0002059HP:0002059Cerebral atrophy0VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset8
HP:0002059HP:0002059Cerebral atrophy0VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0002059HP:0002059Cerebral atrophy0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson disease37
HP:0002059HP:0002059Cerebral atrophy0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0002059HP:0002059Cerebral atrophy0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0002059HP:0002059Cerebral atrophy0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0002059HP:0002059Cerebral atrophy0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0002059HP:0002059Cerebral atrophy0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0002059HP:0002059Cerebral atrophy0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0002059HP:0002059Cerebral atrophy0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040282 - Frequent2
HP:0002059HP:0002059Cerebral atrophy0WDR45 CL E G H1115228912ORPHA:329284Beta-propeller protein-associated neurodegenerationHP:0040282 - Frequent51
HP:0002059HP:0002059Cerebral atrophy0WDR45 CL E G H1115228912OMIM:300894Neurodegeneration with brain iron accumulation 5.51
HP:0002059HP:0002059Cerebral atrophy0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 114
HP:0002059HP:0002059Cerebral atrophy0WFS1 CL E G H746612762ORPHA:3463Wolfram syndrome389
HP:0002059HP:0002059Cerebral atrophy0WFS1 CL E G H746612762OMIM:222300Wolfram syndrome 1.389
HP:0002059HP:0002059Cerebral atrophy0WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2155
HP:0002059HP:0002059Cerebral atrophy0WIPI2 CL E G H2610032225OMIM:618453Intellectual developmental disorder with short stature and variable skeletal anomalies.
HP:0002059HP:0002059Cerebral atrophy0WWOX CL E G H5174112799OMIM:616211Epileptic encephalopathy, early infantile, 28HP:0040283 - Occasional149
HP:0002059HP:0002059Cerebral atrophy0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0002059HP:0002059Cerebral atrophy0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosum34
HP:0002059HP:0002059Cerebral atrophy0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosum86
HP:0002059HP:0002059Cerebral atrophy0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0002059HP:0002059Cerebral atrophy0YRDC CL E G H7969328905OMIM:619609GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0002059HP:0002059Cerebral atrophy0YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndrome14
HP:0002059HP:0002059Cerebral atrophy0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0002059HP:0002059Cerebral atrophy0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0002059HP:0002059Cerebral atrophy0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002059HP:0002059Cerebral atrophy0ZNF335 CL E G H6392515807OMIM:615095Microcephaly 10, primary, autosomal recessive.60
HP:0002059HP:0002059Cerebral atrophy0ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndrome1
HP:0002059HP:0002120Cerebral cortical atrophy1ABCA7 CL E G H1034737OMIM:608907Alzheimer disease 9, susceptibility to.3
HP:0002059HP:0002120Cerebral cortical atrophy1ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0002059HP:0002120Cerebral cortical atrophy1ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent11
HP:0002059HP:0002120Cerebral cortical atrophy1ACO2 CL E G H50118OMIM:614559INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD60
HP:0002059HP:0002120Cerebral cortical atrophy1ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent72
HP:0002059HP:0002120Cerebral cortical atrophy1ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent123
HP:0002059HP:0002120Cerebral cortical atrophy1ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional530
HP:0002059HP:0002120Cerebral cortical atrophy1ADGRV1 CL E G H8405917416ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional530
HP:0002059HP:0002120Cerebral cortical atrophy1AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0002059HP:0002120Cerebral cortical atrophy1ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040283 - Occasional89
HP:0002059HP:0002120Cerebral cortical atrophy1ALDH18A1 CL E G H58329722OMIM:616586Spastic paraplegia 9B, autosomal recessive89
HP:0002059HP:0002120Cerebral cortical atrophy1ALG8 CL E G H7905323161ORPHA:79325ALG8-CDGHP:0040283 - Occasional46
HP:0002059HP:0002120Cerebral cortical atrophy1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0002059HP:0002120Cerebral cortical atrophy1AMPD2 CL E G H271469OMIM:615809Pontocerebellar hypoplasia, type 9.21
HP:0002059HP:0002120Cerebral cortical atrophy1AP1S2 CL E G H8905560ORPHA:1568X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndromeHP:0040281 - Very frequent13
HP:0002059HP:0002120Cerebral cortical atrophy1AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent49
HP:0002059HP:0002120Cerebral cortical atrophy1AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent48
HP:0002059HP:0002120Cerebral cortical atrophy1AP4E1 CL E G H23431573OMIM:613744Spastic paraplegia 51, autosomal recessive.48
HP:0002059HP:0002120Cerebral cortical atrophy1AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent41
HP:0002059HP:0002120Cerebral cortical atrophy1AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040282 - Frequent18
HP:0002059HP:0002120Cerebral cortical atrophy1APOE CL E G H348613OMIM:607822Alzheimer disease 3.39
HP:0002059HP:0002120Cerebral cortical atrophy1APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent74
HP:0002059HP:0002120Cerebral cortical atrophy1ARX CL E G H17030218060ORPHA:2508Corpus callosum agenesis-abnormal genitalia syndromeHP:0040283 - Occasional166
HP:0002059HP:0002506Diffuse cerebral atrophy1ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002059HP:0002506Diffuse cerebral atrophy1ATP13A2 CL E G H2340030213ORPHA:314632ATP13A2-related juvenile neuronal ceroid lipofuscinosisHP:0040282 - Frequent100
HP:0002059HP:0002120Cerebral cortical atrophy1ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0002059HP:0002120Cerebral cortical atrophy1ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0002059HP:0002120Cerebral cortical atrophy1ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0002059HP:0006892Frontotemporal cerebral atrophy1ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0002059HP:0002120Cerebral cortical atrophy1ATP6 CL E G H45087414ORPHA:644NARP syndromeHP:0040282 - Frequent
HP:0002059HP:0002506Diffuse cerebral atrophy1ATP6AP2 CL E G H1015918305ORPHA:363654X-linked parkinsonism-spasticity syndromeHP:0040283 - Occasional36
HP:0002059HP:0002120Cerebral cortical atrophy1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040283 - Occasional169
HP:0002059HP:0002120Cerebral cortical atrophy1ATXN2 CL E G H631110555ORPHA:98756Spinocerebellar ataxia type 2HP:0040283 - Occasional11
HP:0002059HP:0002120Cerebral cortical atrophy1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0002059HP:0002120Cerebral cortical atrophy1B4GALNT1 CL E G H25834117ORPHA:101006Autosomal recessive spastic paraplegia type 26HP:0040282 - Frequent25
HP:0002059HP:0002120Cerebral cortical atrophy1B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive.25
HP:0002059HP:0002120Cerebral cortical atrophy1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndromeHP:0040283 - Occasional8
HP:0002059HP:0002120Cerebral cortical atrophy1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0002059HP:0002120Cerebral cortical atrophy1BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0002059HP:0002120Cerebral cortical atrophy1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0002059HP:0002120Cerebral cortical atrophy1BRAF CL E G H6731097ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional276
HP:0002059HP:0002120Cerebral cortical atrophy1BRAF CL E G H6731097OMIM:115150Cardiofaciocutaneous syndrome 1.276
HP:0002059HP:0002120Cerebral cortical atrophy1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0002059HP:0002506Diffuse cerebral atrophy1BTD CL E G H6861122OMIM:253260Biotinidase deficiencymultiple carboxylase deficiency, late-onset.223
HP:0002059HP:0002120Cerebral cortical atrophy1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0006892Frontotemporal cerebral atrophy1C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0002059HP:0002120Cerebral cortical atrophy1C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasia56
HP:0002059HP:0006892Frontotemporal cerebral atrophy1C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent56
HP:0002059HP:0002120Cerebral cortical atrophy1CACNA1E CL E G H7771392OMIM:618285Developmental and epileptic encephalopathy 69.11
HP:0002059HP:0002120Cerebral cortical atrophy1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0002059HP:0002120Cerebral cortical atrophy1CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare34
HP:0002059HP:0002120Cerebral cortical atrophy1CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0002059HP:0002506Diffuse cerebral atrophy1CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040282 - Frequent35
HP:0002059HP:0002120Cerebral cortical atrophy1CARS2 CL E G H7958725695OMIM:616672Combined oxidative phosphorylation deficiency 2735
HP:0002059HP:0002506Diffuse cerebral atrophy1CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0002059HP:0002120Cerebral cortical atrophy1CASK CL E G H85731497ORPHA:163937X-linked intellectual disability, Najm typeHP:0040282 - Frequent118
HP:0002059HP:0002120Cerebral cortical atrophy1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent3
HP:0002059HP:0002120Cerebral cortical atrophy1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome.6
HP:0002059HP:0002120Cerebral cortical atrophy1CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional636
HP:0002059HP:0002506Diffuse cerebral atrophy1CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0002059HP:0002120Cerebral cortical atrophy1CHCHD10 CL E G H40091615559OMIM:615911Frontotemporal dementia and/or amyotrophic lateral sclerosis 2HP:0040283 - Occasional11
HP:0002059HP:0006892Frontotemporal cerebral atrophy1CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0002059HP:0002120Cerebral cortical atrophy1CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 7.42
HP:0002059HP:0002120Cerebral cortical atrophy1CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasia42
HP:0002059HP:0006892Frontotemporal cerebral atrophy1CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent42
HP:0002059HP:0002120Cerebral cortical atrophy1CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional15
HP:0002059HP:0002120Cerebral cortical atrophy1CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0002059HP:0002120Cerebral cortical atrophy1CIZ1 CL E G H2579216744ORPHA:420492Adult-onset cervical dystonia, DYT23 typeHP:0040284 - Very rare16
HP:0002059HP:0002120Cerebral cortical atrophy1CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040282 - Frequent45
HP:0002059HP:0002120Cerebral cortical atrophy1CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndromeHP:0040284 - Very rare45
HP:0002059HP:0002120Cerebral cortical atrophy1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0002059HP:0002120Cerebral cortical atrophy1CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040282 - Frequent141
HP:0002059HP:0002120Cerebral cortical atrophy1CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0002059HP:0002120Cerebral cortical atrophy1CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0002059HP:0002120Cerebral cortical atrophy1COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0002059HP:0002506Diffuse cerebral atrophy1COG2 CL E G H227966546ORPHA:435934COG2-CDGHP:0040281 - Very frequent2
HP:0002059HP:0002506Diffuse cerebral atrophy1COG2 CL E G H227966546OMIM:617395Congenital disorder of glycosylation, type IIq.2
HP:0002059HP:0006892Frontotemporal cerebral atrophy1COG4 CL E G H2583918620ORPHA:263501COG4-CDGHP:0040282 - Frequent67
HP:0002059HP:0002506Diffuse cerebral atrophy1COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0002059HP:0002506Diffuse cerebral atrophy1COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0002059HP:0002120Cerebral cortical atrophy1COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1CPA6 CL E G H5709417245OMIM:614418FEBRILE SEIZURES, FAMILIAL, 11; FEB1149
HP:0002059HP:0002120Cerebral cortical atrophy1CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63HP:0040284 - Very rare1
HP:0002059HP:0002120Cerebral cortical atrophy1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040282 - Frequent17
HP:0002059HP:0002506Diffuse cerebral atrophy1CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 13.20
HP:0002059HP:0002120Cerebral cortical atrophy1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0002059HP:0002120Cerebral cortical atrophy1CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemia2
HP:0002059HP:0002120Cerebral cortical atrophy1CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemia24
HP:0002059HP:0002506Diffuse cerebral atrophy1DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0002059HP:0002120Cerebral cortical atrophy1DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0002059HP:0002120Cerebral cortical atrophy1DGUOK CL E G H17162858OMIM:617070Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4.57
HP:0002059HP:0002506Diffuse cerebral atrophy1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0002059HP:0002120Cerebral cortical atrophy1DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent65
HP:0002059HP:0002506Diffuse cerebral atrophy1DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002059HP:0002120Cerebral cortical atrophy1DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0002059HP:0002120Cerebral cortical atrophy1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0002506Diffuse cerebral atrophy1DNM1L CL E G H100592973ORPHA:330050DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040283 - Occasional94
HP:0002059HP:0002120Cerebral cortical atrophy1DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome11
HP:0002059HP:0002120Cerebral cortical atrophy1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0002059HP:0002120Cerebral cortical atrophy1DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0002059HP:0002120Cerebral cortical atrophy1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040282 - Frequent134
HP:0002059HP:0002120Cerebral cortical atrophy1DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0002059HP:0002120Cerebral cortical atrophy1EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040283 - Occasional223
HP:0002059HP:0002120Cerebral cortical atrophy1EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional2
HP:0002059HP:0002120Cerebral cortical atrophy1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0002059HP:0002120Cerebral cortical atrophy1ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0002059HP:0002120Cerebral cortical atrophy1EMX2 CL E G H20183341OMIM:269160SCHIZENCEPHALY7
HP:0002059HP:0002120Cerebral cortical atrophy1EPG5 CL E G H5772429331ORPHA:1493Vici syndromeHP:0040283 - Occasional40
HP:0002059HP:0002120Cerebral cortical atrophy1ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0002059HP:0002120Cerebral cortical atrophy1ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0002059HP:0002120Cerebral cortical atrophy1ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0002059HP:0002120Cerebral cortical atrophy1ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0002059HP:0002120Cerebral cortical atrophy1ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0002059HP:0002120Cerebral cortical atrophy1ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0002059HP:0002120Cerebral cortical atrophy1ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0002059HP:0002120Cerebral cortical atrophy1ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0002059HP:0002120Cerebral cortical atrophy1ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0002059HP:0002506Diffuse cerebral atrophy1ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0002059HP:0002120Cerebral cortical atrophy1ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0002059HP:0002120Cerebral cortical atrophy1ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional33
HP:0002059HP:0002120Cerebral cortical atrophy1EXOC7 CL E G H2326523214OMIM:619072NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA
HP:0002059HP:0002120Cerebral cortical atrophy1EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0002059HP:0002120Cerebral cortical atrophy1EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0002059HP:0002120Cerebral cortical atrophy1EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0002059HP:0002120Cerebral cortical atrophy1EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C.4
HP:0002059HP:0002120Cerebral cortical atrophy1EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0002059HP:0002120Cerebral cortical atrophy1EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0002059HP:0002120Cerebral cortical atrophy1FA2H CL E G H7915221197ORPHA:171629Autosomal recessive spastic paraplegia type 35HP:0040283 - Occasional76
HP:0002059HP:0002506Diffuse cerebral atrophy1FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 14.36
HP:0002059HP:0002120Cerebral cortical atrophy1FARS2 CL E G H1066721062OMIM:614946Combined oxidative phosphorylation deficiency 1436
HP:0002059HP:0002120Cerebral cortical atrophy1FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0002059HP:0002506Diffuse cerebral atrophy1FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0002059HP:0002120Cerebral cortical atrophy1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent157
HP:0002059HP:0002120Cerebral cortical atrophy1FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040283 - Occasional30
HP:0002059HP:0002506Diffuse cerebral atrophy1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0002059HP:0002120Cerebral cortical atrophy1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040281 - Very frequent30
HP:0002059HP:0002120Cerebral cortical atrophy1FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0002059HP:0006892Frontotemporal cerebral atrophy1GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0002059HP:0002120Cerebral cortical atrophy1GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0002059HP:0002120Cerebral cortical atrophy1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent10
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional10
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional139
HP:0002059HP:0002506Diffuse cerebral atrophy1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional160
HP:0002059HP:0002506Diffuse cerebral atrophy1GALC CL E G H25814115OMIM:245200Krabbe disease.160
HP:0002059HP:0002120Cerebral cortical atrophy1GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040282 - Frequent30
HP:0002059HP:0002120Cerebral cortical atrophy1GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0002059HP:0002506Diffuse cerebral atrophy1GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040282 - Frequent120
HP:0002059HP:0002506Diffuse cerebral atrophy1GLB1 CL E G H27204298OMIM:230650Gm1-gangliosidosis, type III.120
HP:0002059HP:0002120Cerebral cortical atrophy1GLYCTK CL E G H13215824247OMIM:220120D-GLYCERIC ACIDURIA.6
HP:0002059HP:0002120Cerebral cortical atrophy1GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent34
HP:0002059HP:0002506Diffuse cerebral atrophy1GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0002059HP:0002120Cerebral cortical atrophy1GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0002059HP:0002120Cerebral cortical atrophy1GNAQ CL E G H27764390OMIM:185300Sturge-Weber syndrome.7
HP:0002059HP:0002120Cerebral cortical atrophy1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0002059HP:0002120Cerebral cortical atrophy1GON7 CL E G H8452020356OMIM:619603GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002059HP:0002120Cerebral cortical atrophy1GPKOW CL E G H2723830677ORPHA:2570Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndromeHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0002059HP:0002120Cerebral cortical atrophy1GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0002059HP:0002506Diffuse cerebral atrophy1GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0002059HP:0002120Cerebral cortical atrophy1GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessiveHP:0040284 - Very rare108
HP:0002059HP:0002506Diffuse cerebral atrophy1GRIN2A CL E G H29034585ORPHA:289266Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationHP:0040283 - Occasional434
HP:0002059HP:0002506Diffuse cerebral atrophy1GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0002059HP:0002120Cerebral cortical atrophy1GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0002059HP:0006892Frontotemporal cerebral atrophy1GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0002059HP:0002120Cerebral cortical atrophy1GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions.126
HP:0002059HP:0002120Cerebral cortical atrophy1GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasia126
HP:0002059HP:0006892Frontotemporal cerebral atrophy1GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent126
HP:0002059HP:0002120Cerebral cortical atrophy1GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0002059HP:0002120Cerebral cortical atrophy1GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0002059HP:0002120Cerebral cortical atrophy1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002059HP:0002120Cerebral cortical atrophy1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002059HP:0002120Cerebral cortical atrophy1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002059HP:0002120Cerebral cortical atrophy1GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 40.2
HP:0002059HP:0002120Cerebral cortical atrophy1H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional54
HP:0002059HP:0002120Cerebral cortical atrophy1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0002059HP:0002120Cerebral cortical atrophy1HERC1 CL E G H89254867OMIM:617011Macrocephaly, dysmorphic facies, and psychomotor retardationHP:0040283 - Occasional16
HP:0002059HP:0002120Cerebral cortical atrophy1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0002059HP:0002120Cerebral cortical atrophy1HEXB CL E G H30744879ORPHA:309155Sandhoff disease, infantile form80
HP:0002059HP:0002120Cerebral cortical atrophy1HIC1 CL E G H30904909ORPHA:531Miller-Dieker syndromeHP:0040281 - Very frequent
HP:0002059HP:0002120Cerebral cortical atrophy1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0002059HP:0002120Cerebral cortical atrophy1HNF1B CL E G H692811630OMIM:137920Renal cysts and diabetes syndrome.90
HP:0002059HP:0002120Cerebral cortical atrophy1HRAS CL E G H32655173ORPHA:3071Costello syndromeHP:0040282 - Frequent113
HP:0002059HP:0002506Diffuse cerebral atrophy1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0002059HP:0006892Frontotemporal cerebral atrophy1HSD17B10 CL E G H30284800ORPHA:391428HSD10 disease, infantile typeHP:0040283 - Occasional19
HP:0002059HP:0002120Cerebral cortical atrophy1HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease.19
HP:0002059HP:0002120Cerebral cortical atrophy1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent345
HP:0002059HP:0002506Diffuse cerebral atrophy1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0002059HP:0002120Cerebral cortical atrophy1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0002059HP:0002120Cerebral cortical atrophy1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040283 - Occasional52
HP:0002059HP:0002120Cerebral cortical atrophy1JPH3 CL E G H5733814203ORPHA:98934Huntington disease-like 2HP:0040283 - Occasional2
HP:0002059HP:0002506Diffuse cerebral atrophy1KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0002059HP:0002120Cerebral cortical atrophy1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent1
HP:0002059HP:0002120Cerebral cortical atrophy1KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14.321
HP:0002059HP:0002120Cerebral cortical atrophy1KDM6A CL E G H740312637ORPHA:2322Kabuki syndromeHP:0040282 - Frequent53
HP:0002059HP:0002120Cerebral cortical atrophy1KIF1A CL E G H547888ORPHA:2836PEHO syndromeHP:0040281 - Very frequent276
HP:0002059HP:0002120Cerebral cortical atrophy1KMT2D CL E G H80857133ORPHA:2322Kabuki syndromeHP:0040282 - Frequent660
HP:0002059HP:0002120Cerebral cortical atrophy1KRAS CL E G H38456407ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional196
HP:0002059HP:0002120Cerebral cortical atrophy1KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0002059HP:0002120Cerebral cortical atrophy1LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent136
HP:0002059HP:0002120Cerebral cortical atrophy1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1LIPT2 CL E G H38778737216OMIM:617668Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities.2
HP:0002059HP:0002120Cerebral cortical atrophy1LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0002059HP:0002120Cerebral cortical atrophy1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0002059HP:0002120Cerebral cortical atrophy1MAF CL E G H40946776ORPHA:1272Aymé-Gripp syndromeHP:0040282 - Frequent21
HP:0002059HP:0002120Cerebral cortical atrophy1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0002059HP:0002120Cerebral cortical atrophy1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0002059HP:0002120Cerebral cortical atrophy1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0002059HP:0002120Cerebral cortical atrophy1MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0002059HP:0002120Cerebral cortical atrophy1MAN2B1 CL E G H41256826ORPHA:309288Alpha-mannosidosis, adult formHP:0040283 - Occasional136
HP:0002059HP:0002120Cerebral cortical atrophy1MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040283 - Occasional136
HP:0002059HP:0002120Cerebral cortical atrophy1MAP2K1 CL E G H56046840ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional134
HP:0002059HP:0002120Cerebral cortical atrophy1MAP2K2 CL E G H56056842ORPHA:1340Cardiofaciocutaneous syndromeHP:0040283 - Occasional178
HP:0002059HP:0006892Frontotemporal cerebral atrophy1MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0002059HP:0002120Cerebral cortical atrophy1MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasia140
HP:0002059HP:0006892Frontotemporal cerebral atrophy1MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent140
HP:0002059HP:0002120Cerebral cortical atrophy1MARS2 CL E G H9293525133ORPHA:314603Autosomal recessive spastic ataxia with leukoencephalopathyHP:0040282 - Frequent25
HP:0002059HP:0002120Cerebral cortical atrophy1MARS2 CL E G H9293525133OMIM:611390Spastic ataxia 3, autosomal recessive.25
HP:0002059HP:0002120Cerebral cortical atrophy1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0002059HP:0002120Cerebral cortical atrophy1MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0002059HP:0002120Cerebral cortical atrophy1MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0002059HP:0002506Diffuse cerebral atrophy1MED17 CL E G H94402375OMIM:613668Microcephaly, postnatal progressive, with seizures and brain atrophy.23
HP:0002059HP:0002120Cerebral cortical atrophy1MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndrome132
HP:0002059HP:0002120Cerebral cortical atrophy1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002059HP:0002120Cerebral cortical atrophy1MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0002059HP:0002120Cerebral cortical atrophy1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0002059HP:0002120Cerebral cortical atrophy1MMACHC CL E G H2597424525OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.101
HP:0002059HP:0002120Cerebral cortical atrophy1MMADHC CL E G H2724925221OMIM:277410Methylmalonic aciduria and homocystinuria, Cbld type.50
HP:0002059HP:0002120Cerebral cortical atrophy1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0002059HP:0002506Diffuse cerebral atrophy1MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0002059HP:0002120Cerebral cortical atrophy1MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0002059HP:0002120Cerebral cortical atrophy1MPLKIP CL E G H13664716002OMIM:234050Trichothiodystrophy 4, nonphotosensitiveHP:0040283 - Occasional9
HP:0002059HP:0002120Cerebral cortical atrophy1MUC1 CL E G H45827508OMIM:174000Tubulointerstitial kidney disease, autosomal dominant, 2.1
HP:0002059HP:0002120Cerebral cortical atrophy1MVK CL E G H45987530ORPHA:29Mevalonic aciduriaHP:0040281 - Very frequent150
HP:0002059HP:0002120Cerebral cortical atrophy1MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040283 - Occasional35
HP:0002059HP:0002120Cerebral cortical atrophy1MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional516
HP:0002059HP:0002120Cerebral cortical atrophy1MYO7A CL E G H46477606ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional516
HP:0002059HP:0002120Cerebral cortical atrophy1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0002059HP:0002120Cerebral cortical atrophy1ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1NDE1 CL E G H5482017619ORPHA:2177HydranencephalyHP:0040281 - Very frequent96
HP:0002059HP:0002120Cerebral cortical atrophy1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0002059HP:0002120Cerebral cortical atrophy1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0002059HP:0002120Cerebral cortical atrophy1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0002059HP:0002120Cerebral cortical atrophy1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0002059HP:0002120Cerebral cortical atrophy1NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002059HP:0002120Cerebral cortical atrophy1NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24101
HP:0002059HP:0002506Diffuse cerebral atrophy1NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040281 - Very frequent52
HP:0002059HP:0002120Cerebral cortical atrophy1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional494
HP:0002059HP:0002120Cerebral cortical atrophy1NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002059HP:0002120Cerebral cortical atrophy1NUS1 CL E G H11615021042OMIM:617082Congenital disorder of glycosylation, type IAA.1
HP:0002059HP:0002120Cerebral cortical atrophy1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0002059HP:0002120Cerebral cortical atrophy1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0002059HP:0002120Cerebral cortical atrophy1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0002059HP:0002120Cerebral cortical atrophy1OCLN CL E G H1005066588104ORPHA:1229Congenital intrauterine infection-like syndromeHP:0040282 - Frequent23
HP:0002059HP:0002120Cerebral cortical atrophy1OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0002059HP:0002120Cerebral cortical atrophy1OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040283 - Occasional4
HP:0002059HP:0002120Cerebral cortical atrophy1PAFAH1B1 CL E G H50488574ORPHA:531Miller-Dieker syndromeHP:0040281 - Very frequent231
HP:0002059HP:0002120Cerebral cortical atrophy1PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent26
HP:0002059HP:0002120Cerebral cortical atrophy1PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0002059HP:0002120Cerebral cortical atrophy1PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional352
HP:0002059HP:0002120Cerebral cortical atrophy1PCDHGC4 CL E G H560988717OMIM:619880
HP:0002059HP:0002120Cerebral cortical atrophy1PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0002059HP:0002120Cerebral cortical atrophy1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0002059HP:0002120Cerebral cortical atrophy1PDZD7 CL E G H7995526257ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional40
HP:0002059HP:0002120Cerebral cortical atrophy1PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger)169
HP:0002059HP:0002120Cerebral cortical atrophy1PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0002059HP:0002120Cerebral cortical atrophy1PGAP1 CL E G H8005525712ORPHA:401820Autosomal recessive spastic paraplegia type 67HP:0040282 - Frequent20
HP:0002059HP:0002120Cerebral cortical atrophy1PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0002059HP:0002120Cerebral cortical atrophy1PIGA CL E G H52778957OMIM:300868Multiple congenital anomalies-hypotonia-seizures syndrome 2.46
HP:0002059HP:0002120Cerebral cortical atrophy1PIGA CL E G H52778957OMIM:301072NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH46
HP:0002059HP:0002120Cerebral cortical atrophy1PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040283 - Occasional36
HP:0002059HP:0002120Cerebral cortical atrophy1PIGN CL E G H235568967ORPHA:2059Fryns syndromeHP:0040282 - Frequent37
HP:0002059HP:0002506Diffuse cerebral atrophy1PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0002059HP:0002506Diffuse cerebral atrophy1PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0002059HP:0002120Cerebral cortical atrophy1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002059HP:0002120Cerebral cortical atrophy1PIGV CL E G H5565026031OMIM:239300Hyperphosphatasia with mental retardation.57
HP:0002059HP:0006892Frontotemporal cerebral atrophy1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1PLA2G6 CL E G H83989039ORPHA:199351Adult-onset dystonia-parkinsonismHP:0040282 - Frequent133
HP:0002059HP:0006892Frontotemporal cerebral atrophy1PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive.133
HP:0002059HP:0002120Cerebral cortical atrophy1PLAA CL E G H93739043OMIM:617527Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies3
HP:0002059HP:0002120Cerebral cortical atrophy1PLK4 CL E G H1073311397ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent11
HP:0002059HP:0002506Diffuse cerebral atrophy1PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040282 - Frequent7
HP:0002059HP:0002506Diffuse cerebral atrophy1PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0002059HP:0002120Cerebral cortical atrophy1POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040284 - Very rare35
HP:0002059HP:0002120Cerebral cortical atrophy1POLG2 CL E G H112329180OMIM:619425MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE); MTDPS16B45
HP:0002059HP:0002120Cerebral cortical atrophy1POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0002059HP:0002120Cerebral cortical atrophy1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040283 - Occasional138
HP:0002059HP:0002120Cerebral cortical atrophy1POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0002059HP:0002120Cerebral cortical atrophy1POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent213
HP:0002059HP:0002120Cerebral cortical atrophy1POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent221
HP:0002059HP:0002120Cerebral cortical atrophy1POMT2 CL E G H2995419743OMIM:613156MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2.221
HP:0002059HP:0002120Cerebral cortical atrophy1POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14221
HP:0002059HP:0002120Cerebral cortical atrophy1POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040284 - Very rare
HP:0002059HP:0002120Cerebral cortical atrophy1PPFIBP1 CL E G H84969249OMIM:620024
HP:0002059HP:0002120Cerebral cortical atrophy1PPP2R2B CL E G H55219305OMIM:604326Spinocerebellar ataxia 12.5
HP:0002059HP:0002120Cerebral cortical atrophy1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent148
HP:0002059HP:0002120Cerebral cortical atrophy1PRDX1 CL E G H50529352OMIM:277400Methylmalonic aciduria and homocystinuria, Cblc type.
HP:0002059HP:0002506Diffuse cerebral atrophy1PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0002059HP:0006892Frontotemporal cerebral atrophy1PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040283 - Occasional2
HP:0002059HP:0002120Cerebral cortical atrophy1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0002059HP:0002120Cerebral cortical atrophy1PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0002059HP:0002120Cerebral cortical atrophy1PRUNE1 CL E G H5849713420OMIM:617481Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies.8
HP:0002059HP:0002506Diffuse cerebral atrophy1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040283 - Occasional81
HP:0002059HP:0002120Cerebral cortical atrophy1PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3.241
HP:0002059HP:0006892Frontotemporal cerebral atrophy1PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0002059HP:0002120Cerebral cortical atrophy1PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent241
HP:0002059HP:0002120Cerebral cortical atrophy1PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasia241
HP:0002059HP:0006892Frontotemporal cerebral atrophy1PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent241
HP:0002059HP:0002120Cerebral cortical atrophy1PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent59
HP:0002059HP:0002120Cerebral cortical atrophy1PUS3 CL E G H8348025461ORPHA:488627Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndromeHP:0040282 - Frequent1
HP:0002059HP:0002120Cerebral cortical atrophy1PYCR2 CL E G H2992030262OMIM:616420Leukodystrophy, hypomyelinating, 10.11
HP:0002059HP:0002120Cerebral cortical atrophy1RAB18 CL E G H2293114244ORPHA:2510Micro syndromeHP:0040282 - Frequent85
HP:0002059HP:0002120Cerebral cortical atrophy1RAB18 CL E G H2293114244OMIM:614222Warburg micro syndrome 3.85
HP:0002059HP:0002120Cerebral cortical atrophy1RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040283 - Occasional90
HP:0002059HP:0002120Cerebral cortical atrophy1RAB3GAP1 CL E G H2293017063ORPHA:2510Micro syndromeHP:0040282 - Frequent90
HP:0002059HP:0002120Cerebral cortical atrophy1RAB3GAP2 CL E G H2578217168ORPHA:401830Autosomal recessive spastic paraplegia type 69HP:0040282 - Frequent135
HP:0002059HP:0002120Cerebral cortical atrophy1RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040283 - Occasional135
HP:0002059HP:0002120Cerebral cortical atrophy1RAB3GAP2 CL E G H2578217168ORPHA:2510Micro syndromeHP:0040282 - Frequent135
HP:0002059HP:0002120Cerebral cortical atrophy1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional25
HP:0002059HP:0002506Diffuse cerebral atrophy1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1RARS2 CL E G H5703821406OMIM:611523Pontocerebellar hypoplasia, type 693
HP:0002059HP:0002120Cerebral cortical atrophy1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent16
HP:0002059HP:0002120Cerebral cortical atrophy1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1RFT1 CL E G H9186930220ORPHA:244310RFT1-CDGHP:0040283 - Occasional92
HP:0002059HP:0002120Cerebral cortical atrophy1RHOBTB2 CL E G H2322118756OMIM:618004Epileptic encephalopathy, early infantile, 64.1
HP:0002059HP:0002120Cerebral cortical atrophy1RMND1 CL E G H5500521176OMIM:614922Combined oxidative phosphorylation deficiency 11.26
HP:0002059HP:0002120Cerebral cortical atrophy1RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0002059HP:0002120Cerebral cortical atrophy1RNF125 CL E G H5494121150OMIM:616260Tenorio syndrome.5
HP:0002059HP:0002120Cerebral cortical atrophy1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0002059HP:0002120Cerebral cortical atrophy1RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040283 - Occasional65
HP:0002059HP:0002120Cerebral cortical atrophy1RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent77
HP:0002059HP:0002120Cerebral cortical atrophy1SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional1053
HP:0002059HP:0002506Diffuse cerebral atrophy1SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional126
HP:0002059HP:0002506Diffuse cerebral atrophy1SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional427
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional318
HP:0002059HP:0002120Cerebral cortical atrophy1SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0002059HP:0002120Cerebral cortical atrophy1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0002059HP:0002120Cerebral cortical atrophy1SHH CL E G H646910848OMIM:269160SCHIZENCEPHALY67
HP:0002059HP:0002120Cerebral cortical atrophy1SHQ1 CL E G H5516425543OMIM:619922
HP:0002059HP:0002506Diffuse cerebral atrophy1SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0002059HP:0002120Cerebral cortical atrophy1SIX3 CL E G H649610889OMIM:269160SCHIZENCEPHALY32
HP:0002059HP:0002120Cerebral cortical atrophy1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent150
HP:0002059HP:0002120Cerebral cortical atrophy1SLC25A15 CL E G H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHP:0040282 - Frequent88
HP:0002059HP:0002120Cerebral cortical atrophy1SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome.88
HP:0002059HP:0002506Diffuse cerebral atrophy1SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0002059HP:0002120Cerebral cortical atrophy1SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0002059HP:0002120Cerebral cortical atrophy1SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc.71
HP:0002059HP:0002120Cerebral cortical atrophy1SLC39A4 CL E G H5563017129ORPHA:37Acrodermatitis enteropathicaHP:0040281 - Very frequent55
HP:0002059HP:0002120Cerebral cortical atrophy1SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040282 - Frequent11
HP:0002059HP:0002120Cerebral cortical atrophy1SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040282 - Frequent93
HP:0002059HP:0002120Cerebral cortical atrophy1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional135
HP:0002059HP:0002120Cerebral cortical atrophy1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional91
HP:0002059HP:0002120Cerebral cortical atrophy1SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0002059HP:0002120Cerebral cortical atrophy1SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0002059HP:0002120Cerebral cortical atrophy1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0002059HP:0002120Cerebral cortical atrophy1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0002059HP:0002120Cerebral cortical atrophy1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0002059HP:0002120Cerebral cortical atrophy1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0002059HP:0002120Cerebral cortical atrophy1SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0002059HP:0002120Cerebral cortical atrophy1SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent3
HP:0002059HP:0002120Cerebral cortical atrophy1SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040283 - Occasional19
HP:0002059HP:0002120Cerebral cortical atrophy1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent4
HP:0002059HP:0002120Cerebral cortical atrophy1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0002059HP:0002120Cerebral cortical atrophy1SPG11 CL E G H8020811226OMIM:604360Spastic paraplegia 11, autosomal recessive.287
HP:0002059HP:0006892Frontotemporal cerebral atrophy1SPG21 CL E G H5132420373ORPHA:101001Autosomal recessive spastic paraplegia type 21HP:0040282 - Frequent28
HP:0002059HP:0002120Cerebral cortical atrophy1SPG7 CL E G H668711237OMIM:607259Spastic paraplegia 7, autosomal recessive.171
HP:0002059HP:0002120Cerebral cortical atrophy1SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040283 - Occasional171
HP:0002059HP:0002120Cerebral cortical atrophy1SPTAN1 CL E G H670911273OMIM:613477Epileptic encephalopathy, early infantile, 5416
HP:0002059HP:0006892Frontotemporal cerebral atrophy1SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0002059HP:0002120Cerebral cortical atrophy1SQSTM1 CL E G H887811280OMIM:616437Frontotemporal dementia and/or amyotrophic lateral sclerosis 3.62
HP:0002059HP:0002120Cerebral cortical atrophy1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0002059HP:0002120Cerebral cortical atrophy1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040283 - Occasional9
HP:0002059HP:0002120Cerebral cortical atrophy1TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1TBC1D20 CL E G H12863716133ORPHA:2510Micro syndromeHP:0040282 - Frequent15
HP:0002059HP:0002120Cerebral cortical atrophy1TBC1D20 CL E G H12863716133OMIM:615663Warburg micro syndrome 415
HP:0002059HP:0002506Diffuse cerebral atrophy1TBC1D24 CL E G H5746529203ORPHA:352596Progressive myoclonic epilepsy with dystoniaHP:0040283 - Occasional271
HP:0002059HP:0002120Cerebral cortical atrophy1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040281 - Very frequent16
HP:0002059HP:0002506Diffuse cerebral atrophy1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0002059HP:0002120Cerebral cortical atrophy1TBK1 CL E G H2911011584OMIM:616439Frontotemporal dementia and/or amyotrophic lateral sclerosis 4.20
HP:0002059HP:0002120Cerebral cortical atrophy1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0002506Diffuse cerebral atrophy1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0002059HP:0007058Generalized cerebral atrophy/hypoplasia1TBP CL E G H690811588ORPHA:98759Spinocerebellar ataxia type 17HP:0040282 - Frequent7
HP:0002059HP:0002120Cerebral cortical atrophy1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040282 - Frequent31
HP:0002059HP:0002120Cerebral cortical atrophy1TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent238
HP:0002059HP:0002506Diffuse cerebral atrophy1TIAM1 CL E G H707411805OMIM:6199082
HP:0002059HP:0002120Cerebral cortical atrophy1TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040282 - Frequent60
HP:0002059HP:0002120Cerebral cortical atrophy1TMCO1 CL E G H5449918188ORPHA:1394Cerebrofaciothoracic dysplasiaHP:0040282 - Frequent6
HP:0002059HP:0006892Frontotemporal cerebral atrophy1TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0002059HP:0002120Cerebral cortical atrophy1TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasia
HP:0002059HP:0006892Frontotemporal cerebral atrophy1TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent
HP:0002059HP:0002120Cerebral cortical atrophy1TMEM147 CL E G H1043030414OMIM:620075
HP:0002059HP:0002120Cerebral cortical atrophy1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0002506Diffuse cerebral atrophy1TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0002059HP:0002120Cerebral cortical atrophy1TMEM70 CL E G H5496826050ORPHA:1194TMEM70-related mitochondrial encephalo-cardio-myopathyHP:0040282 - Frequent63
HP:0002059HP:0002120Cerebral cortical atrophy1TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent
HP:0002059HP:0002120Cerebral cortical atrophy1TRAK1 CL E G H2290629947OMIM:618201Epileptic encephalopathy, early infantile, 68.
HP:0002059HP:0002120Cerebral cortical atrophy1TRAPPC12 CL E G H5111224284ORPHA:500144Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndromeHP:0040282 - Frequent2
HP:0002059HP:0002120Cerebral cortical atrophy1TRAPPC12 CL E G H5111224284OMIM:617669Encephalopathy, progressive, early-onset, with brain atrophy and spasticity.2
HP:0002059HP:0002120Cerebral cortical atrophy1TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy.
HP:0002059HP:0002120Cerebral cortical atrophy1TRAPPC9 CL E G H8369630832ORPHA:352530Intellectual disability-obesity-brain malformations-facial dysmorphism syndromeHP:0040281 - Very frequent158
HP:0002059HP:0006892Frontotemporal cerebral atrophy1TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0002059HP:0002120Cerebral cortical atrophy1TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040281 - Very frequent31
HP:0002059HP:0002120Cerebral cortical atrophy1TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent31
HP:0002059HP:0002120Cerebral cortical atrophy1TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0002059HP:0006892Frontotemporal cerebral atrophy1TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent31
HP:0002059HP:0002120Cerebral cortical atrophy1TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasia31
HP:0002059HP:0002506Diffuse cerebral atrophy1TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0002059HP:0002120Cerebral cortical atrophy1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0002059HP:0002120Cerebral cortical atrophy1TRNF CL E G H45587481ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1TRNH CL E G H45647487ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1TRNQ CL E G H45727495ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1TRNW CL E G H45787501ORPHA:550MELASHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0002059HP:0002120Cerebral cortical atrophy1TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2FHP:0040283 - Occasional3
HP:0002059HP:0002120Cerebral cortical atrophy1TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2AHP:0040283 - Occasional102
HP:0002059HP:0006892Frontotemporal cerebral atrophy1TTC26 CL E G H7998921882OMIM:619534BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002059HP:0002120Cerebral cortical atrophy1TUBGCP4 CL E G H2722916691ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent14
HP:0002059HP:0002120Cerebral cortical atrophy1TUBGCP6 CL E G H8537818127ORPHA:2518Autosomal recessive chorioretinopathy-microcephaly syndromeHP:0040282 - Frequent61
HP:0002059HP:0002120Cerebral cortical atrophy1TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0002059HP:0002120Cerebral cortical atrophy1TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent22
HP:0002059HP:0002120Cerebral cortical atrophy1UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0002059HP:0002120Cerebral cortical atrophy1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040281 - Very frequent
HP:0002059HP:0002120Cerebral cortical atrophy1UBTF CL E G H734312511OMIM:617672Neurodegeneration, childhood-onset, with brain atrophy.1
HP:0002059HP:0002120Cerebral cortical atrophy1UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0002059HP:0002506Diffuse cerebral atrophy1UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY
HP:0002059HP:0002120Cerebral cortical atrophy1USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional173
HP:0002059HP:0002120Cerebral cortical atrophy1USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040283 - Occasional78
HP:0002059HP:0002120Cerebral cortical atrophy1USH2A CL E G H739912601ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional777
HP:0002059HP:0002120Cerebral cortical atrophy1VARS1 CL E G H740712651OMIM:617802Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy.
HP:0002059HP:0006892Frontotemporal cerebral atrophy1VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63
HP:0002059HP:0002120Cerebral cortical atrophy1VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 163
HP:0002059HP:0006892Frontotemporal cerebral atrophy1VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent63
HP:0002059HP:0002120Cerebral cortical atrophy1VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasia63
HP:0002059HP:0002120Cerebral cortical atrophy1VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0002059HP:0002120Cerebral cortical atrophy1VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset.8
HP:0002059HP:0002506Diffuse cerebral atrophy1VPS16 CL E G H6460114584OMIM:619291DYSTONIA 30; DYT30
HP:0002059HP:0002120Cerebral cortical atrophy1VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040283 - Occasional37
HP:0002059HP:0002120Cerebral cortical atrophy1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0002059HP:0002120Cerebral cortical atrophy1VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0002059HP:0002120Cerebral cortical atrophy1VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A32
HP:0002059HP:0002506Diffuse cerebral atrophy1WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0002059HP:0002120Cerebral cortical atrophy1WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0002059HP:0002120Cerebral cortical atrophy1WHRN CL E G H2586116361ORPHA:231178Usher syndrome type 2HP:0040283 - Occasional155
HP:0002059HP:0002120Cerebral cortical atrophy1XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0002059HP:0002120Cerebral cortical atrophy1XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0002059HP:0002120Cerebral cortical atrophy1YWHAE CL E G H753112851ORPHA:531Miller-Dieker syndromeHP:0040281 - Very frequent14
HP:0002059HP:0002120Cerebral cortical atrophy1ZNHIT3 CL E G H932612309ORPHA:2836PEHO syndromeHP:0040281 - Very frequent1
HP:0002059HP:0007112Temporal cortical atrophy2ABCA7 CL E G H1034737OMIM:608907Alzheimer disease 9, susceptibility to3
HP:0002059HP:0100308Cerebral cortical hemiatrophy2ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent72
HP:0002059HP:0100308Cerebral cortical hemiatrophy2ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040282 - Frequent123
HP:0002059HP:0007112Temporal cortical atrophy2ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0002059HP:0007112Temporal cortical atrophy2BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0002059HP:0007112Temporal cortical atrophy2C9ORF72 CL E G H20322828337ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent56
HP:0002059HP:0007112Temporal cortical atrophy2CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0002059HP:0007112Temporal cortical atrophy2CHMP2B CL E G H2597824537ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent42
HP:0002059HP:0007112Temporal cortical atrophy2COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0002059HP:0007112Temporal cortical atrophy2CPA6 CL E G H5709417245OMIM:614418FEBRILE SEIZURES, FAMILIAL, 11; FEB1149
HP:0002059HP:0006913Frontal cortical atrophy2CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0002059HP:0007112Temporal cortical atrophy2CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0002059HP:0006913Frontal cortical atrophy2CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0002059HP:0007112Temporal cortical atrophy2CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0002059HP:0012105Occipital cortical atrophy2DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0002059HP:0100308Cerebral cortical hemiatrophy2EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040283 - Occasional223
HP:0002059HP:0006913Frontal cortical atrophy2GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0002059HP:0007112Temporal cortical atrophy2GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0002059HP:0007112Temporal cortical atrophy2GRN CL E G H28964601ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent126
HP:0002059HP:0006913Frontal cortical atrophy2HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0002059HP:0012105Occipital cortical atrophy2MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0002059HP:0012104Parietal cortical atrophy2MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0002059HP:0012104Parietal cortical atrophy2MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0002059HP:0012105Occipital cortical atrophy2MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0002059HP:0012104Parietal cortical atrophy2MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0002059HP:0012105Occipital cortical atrophy2MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0002059HP:0007112Temporal cortical atrophy2MAPT CL E G H41376893ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent140
HP:0002059HP:0100308Cerebral cortical hemiatrophy2MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0002059HP:0006913Frontal cortical atrophy2MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040283 - Occasional132
HP:0002059HP:0100308Cerebral cortical hemiatrophy2MYO5A CL E G H46447602ORPHA:33445Neuroectodermal melanolysosomal diseaseHP:0040283 - Occasional35
HP:0002059HP:0012105Occipital cortical atrophy2NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0002059HP:0012104Parietal cortical atrophy2NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0002059HP:0012105Occipital cortical atrophy2NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0002059HP:0012104Parietal cortical atrophy2NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0002059HP:0012104Parietal cortical atrophy2NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0002059HP:0012105Occipital cortical atrophy2NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0002059HP:0007112Temporal cortical atrophy2NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24101
HP:0002059HP:0012105Occipital cortical atrophy2OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0002059HP:0012104Parietal cortical atrophy2OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0002059HP:0012105Occipital cortical atrophy2OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0002059HP:0012104Parietal cortical atrophy2OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0002059HP:0012104Parietal cortical atrophy2OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0002059HP:0012105Occipital cortical atrophy2OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0002059HP:0007112Temporal cortical atrophy2OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040283 - Occasional55
HP:0002059HP:0006913Frontal cortical atrophy2OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040283 - Occasional55
HP:0002059HP:0006913Frontal cortical atrophy2PARS2 CL E G H2597330563OMIM:618437Epileptic encephalopathy, early infantile, 7514
HP:0002059HP:0007112Temporal cortical atrophy2PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0002059HP:0006913Frontal cortical atrophy2POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040283 - Occasional221
HP:0002059HP:0007112Temporal cortical atrophy2PSEN1 CL E G H56639508ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent241
HP:0002059HP:0007112Temporal cortical atrophy2RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0002059HP:0012104Parietal cortical atrophy2SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040282 - Frequent309
HP:0002059HP:0006913Frontal cortical atrophy2SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0002059HP:0012104Parietal cortical atrophy2SCYL2 CL E G H5568119286OMIM:618766ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0002059HP:0012105Occipital cortical atrophy2SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0002059HP:0012104Parietal cortical atrophy2SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0002059HP:0012105Occipital cortical atrophy2SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0002059HP:0012104Parietal cortical atrophy2SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0002059HP:0012104Parietal cortical atrophy2SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0002059HP:0012105Occipital cortical atrophy2SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0002059HP:0006913Frontal cortical atrophy2SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0002059HP:0012104Parietal cortical atrophy2STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0002059HP:0100308Cerebral cortical hemiatrophy2TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040282 - Frequent31
HP:0002059HP:0007112Temporal cortical atrophy2TMEM106B CL E G H5466422407ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent
HP:0002059HP:0012104Parietal cortical atrophy2TMEM147 CL E G H1043030414OMIM:620075
HP:0002059HP:0007112Temporal cortical atrophy2TREM2 CL E G H5420917761ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent31
HP:0002059HP:0007112Temporal cortical atrophy2VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0002059HP:0006913Frontal cortical atrophy2VCP CL E G H741512666OMIM:167320Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1.63
HP:0002059HP:0007112Temporal cortical atrophy2VCP CL E G H741512666ORPHA:100070Progressive non-fluent aphasiaHP:0040281 - Very frequent63
HP:0002059HP:0006913Frontal cortical atrophy2VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0002059HP:0410170Hippocampal atrophy3ABCA7 CL E G H1034737OMIM:608907Alzheimer disease 9, susceptibility to.3
HP:0002059HP:0410170Hippocampal atrophy3BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0002059HP:0410170Hippocampal atrophy3CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation.34
HP:0002059HP:0410170Hippocampal atrophy3CPA6 CL E G H5709417245OMIM:614418FEBRILE SEIZURES, FAMILIAL, 11; FEB1149
HP:0002059HP:0410170Hippocampal atrophy3GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0002059HP:0410170Hippocampal atrophy3NEK1 CL E G H47507744OMIM:617892Amyotrophic lateral sclerosis, susceptibility to, 24.101
HP:0002059HP:0410170Hippocampal atrophy3RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15


Genes (639) :AARS1 ABCA7 ABCD4 ACD ACER3 ACO2 ACTB ACTG1 ACTL6B ACY1 ADAM22 ADARB1 ADGRV1 ADK ADNP ADPRS ADSL AGA AGTPBP1 AIFM1 AIMP2 ALDH18A1 ALG1 ALG11 ALG13 ALG14 ALG3 ALG8 ALG9 ALS2 AMPD2 AP1B1 AP1S2 AP3B2 AP3D1 AP4B1 AP4E1 AP4M1 AP4S1 APC2 APOE APP ARV1 ARX ATAD1 ATG7 ATN1 ATP11A ATP13A2 ATP1A2 ATP1A3 ATP6 ATP6AP2 ATP6V1A ATP8A2 ATRX ATXN2 ATXN7 AUH B3GLCT B4GALNT1 BAZ1B BCAP31 BCAS3 BCL7B BCS1L BICD2 BICRA BMP4 BRAF BRD4 BSCL2 BTD BUD23 C9ORF72 CACNA1A CACNA1B CACNA1E CACNA2D1 CAMTA1 CARS1 CARS2 CASK CASZ1 CCDC47 CDC42 CDH23 CDK19 CDKL5 CELF2 CHCHD10 CHMP2B CIB2 CISD2 CIZ1 CLCN4 CLIP2 CLN3 CLN5 CLN6 CLN8 CLP1 CLPB CLTC CNKSR2 CNTNAP1 COG1 COG2 COG4 COG5 COG6 COG7 COL18A1 COLGALT1 COQ2 COQ9 COX1 COX2 COX3 COX4I1 CPA6 CPLX1 CPSF3 CTDP1 CTNS CTSD CTSF CWC27 CYB5A CYB5R3 CYFIP2 CYP27A1 DALRD3 DARS2 DCDC2 DDB2 DGUOK DHCR7 DHDDS DHFR DHX30 DKC1 DMPK DMXL2 DNAJC13 DNAJC3 DNAJC30 DNM1 DNM1L DNMT1 DOCK6 DOCK7 DPAGT1 DPM1 DPYD DSE DTYMK DYNC1I2 DYRK1A EEF1A2 EHMT1 EIF2AK2 EIF4G1 EIF4H ELN ELOVL4 EMC1 EMX2 EPG5 EPRS1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESPN EXOC7 EXOSC1 EXOSC3 EXOSC5 EXOSC8 EXOSC9 FA2H FADD FAR1 FARS2 FARSB FASTKD2 FBLN1 FBXL4 FBXO28 FDXR FGF12 FGF13 FGFR1 FH FKBP6 FKRP FLI1 FMR1 FRMPD4 FRRS1L FUCA1 FZR1 GABBR2 GABRA2 GABRA5 GABRB2 GABRD GABRG2 GAD1 GALC GBA1 GBA2 GDAP2 GFM2 GIGYF2 GJC2 GLB1 GLE1 GLYCTK GM2A GMPPB GNAO1 GNAQ GNPTAB GON7 GOT2 GPKOW GRIA2 GRIA3 GRIA4 GRIN1 GRIN2A GRIN2D GRM7 GRN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GUF1 H3-3A HACE1 HCN1 HDAC4 HDAC8 HECW2 HEPACAM HERC1 HEXB HIC1 HIVEP2 HNF1B HRAS HSD17B10 HSPG2 HTRA1 HTRA2 HTT HUWE1 IARS2 IBA57 IFIH1 IKBKG IRF2BPL ITPA JPH3 KANK1 KCNA1 KCNA2 KCNAB2 KCNB1 KCNMA1 KCNQ2 KCNT1 KCTD7 KDM6A KIDINS220 KIF1A KIF1C KIF7 KMT2D KRAS LAGE3 LARGE1 LHX1 LIAS LIMK1 LIPT2 LONP1 LRRK2 LSM11 LUZP1 LYRM7 MAF MAGEL2 MAN2B1 MAP2K1 MAP2K2 MAPK8IP3 MAPT MARS2 MBTPS2 MDH2 MECP2 MECR MED17 MED25 MED27 MEF2C METTL27 MFSD8 MINPP1 MLXIPL MMACHC MMADHC MMP23B MOCS1 MOCS2 MOGS MORC2 MPDU1 MPLKIP MRM2 MTR MTRR MUC1 MVK MYO5A MYO7A MYT1L NAA10 NACC1 NADK2 NAGA NALCN NANS NAXD NCF1 ND1 ND4 ND5 ND6 NDE1 NDN NDP NDUFA2 NDUFA8 NDUFA9 NECAP1 NEK1 NEUROD2 NEXMIF NFIX NGLY1 NIPBL NKX6-2 NMNAT1 NODAL NOVA2 NRROS NSD1 NTRK2 NUP214 NUS1 NUTM2B-AS1 OCA2 OCLN OFD1 OGDHL OPHN1 OSGEP OSTM1 OTUD6B PAFAH1B1 PARN PARS2 PCCA PCCB PCDH15 PCDHGC4 PCK1 PCLO PCYT2 PDE6D PDHA1 PDHX PDPN PDZD7 PEX1 PEX19 PEX7 PGAP1 PGAP2 PHACTR1 PIGA PIGG PIGL PIGN PIGP PIGQ PIGS PIGT PIGU PIGV PITRM1 PLA2G6 PLAA PLK4 PMPCA PNKP POGZ POLA1 POLG POLG2 POLR3A POLR3B POMT1 POMT2 POU4F1 PPFIBP1 PPP2R2B PPP3CA PPT1 PQBP1 PRDM16 PRDX1 PRKAR1B PRKCZ PRKN PRNP PRUNE1 PSAP PSEN1 PSEN2 PSPH PTCD3 PUF60 PUS3 PYCR2 QARS1 RAB18 RAB23 RAB3GAP1 RAB3GAP2 RAD21 RALGAPA1 RARS1 RARS2 RBL2 REPS1 RERE RFC2 RFT1 RHOBTB2 RMND1 RNASEH2A RNASEH2B RNF113A RNF125 RNF216 RNU4ATAC RNU7-1 ROGDI RPS6KA3 RTEL1 RTTN SACS SC5D SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SCO2 SCYL2 SEPSECS SERPINI1 SETBP1 SETD2 SHH SHQ1 SIK1 SIX3 SKI SLC12A5 SLC13A5 SLC17A5 SLC1A2 SLC1A4 SLC25A15 SLC25A22 SLC25A46 SLC2A1 SLC2A3 SLC33A1 SLC35A2 SLC35C1 SLC38A3 SLC39A14 SLC39A4 SLC39A8 SLC5A6 SLC9A6 SMC1A SMC3 SMG9 SNCA SNRPN SNX14 SORL1 SOX10 SPATA5 SPEN SPG11 SPG21 SPG7 SPTAN1 SQSTM1 STAG1 STAMBP STUB1 STX1A STX1B STXBP1 SUCLA2 SUCLG1 SUMF1 SUOX SYNGAP1 SYNJ1 SYT2 SZT2 TAF2 TANGO2 TARS1 TARS2 TBC1D20 TBC1D24 TBCD TBCK TBK1 TBL2 TBP TCTN3 TDP1 TECPR2 TERT TGFB1 TIAM1 TIMM50 TINF2 TK2 TMCO1 TMEM106B TMEM147 TMEM270 TMEM67 TMEM70 TMX2 TOE1 TOMM40 TP53RK TPI1 TPP1 TRAF7 TRAK1 TRAPPC11 TRAPPC12 TRAPPC2L TRAPPC6B TRAPPC9 TREM2 TREX1 TRIM8 TRIT1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNW TRRAP TSEN15 TSEN2 TSEN54 TTC19 TTC26 TTC5 TUBGCP4 TUBGCP6 TWNK TYROBP UBA5 UBE3A UBE4B UBTF UCHL1 UFM1 UGP2 UNC80 UQCRC1 USH1C USH1G USH2A VARS1 VCP VPS13A VPS13C VPS16 VPS35 VPS37D VPS4A VPS53 VRK1 WARS2 WDR45 WDR73 WFS1 WHRN WIPI2 WWOX XPA XPC YIF1B YRDC YWHAE YWHAG ZC4H2 ZMIZ1 ZNF335 ZNHIT3

Diseases (604) :OMIM:616339 ORPHA:442835 OMIM:608907 ORPHA:1020 OMIM:614857 ORPHA:3322 OMIM:617762 OMIM:614559 ORPHA:2995 OMIM:618468 OMIM:609924 OMIM:617933 OMIM:618862 ORPHA:36387 ORPHA:231178 OMIM:614300 ORPHA:404448 OMIM:618170 OMIM:103050 OMIM:208400 ORPHA:2254 ORPHA:83629 OMIM:618006 ORPHA:447760 OMIM:616586 ORPHA:79327 OMIM:608540 ORPHA:280071 OMIM:300884 OMIM:619036 OMIM:601110 ORPHA:79325 ORPHA:79328 OMIM:606353 OMIM:615809 OMIM:242150 ORPHA:1568 OMIM:617276 OMIM:617050 ORPHA:280763 OMIM:613744 ORPHA:821 OMIM:607822 ORPHA:2508 ORPHA:1934 OMIM:618011 OMIM:619422 OMIM:618494 OMIM:619851 ORPHA:314632 ORPHA:513436 ORPHA:306674 OMIM:617225 OMIM:619605 OMIM:619606 ORPHA:644 OMIM:300423 ORPHA:363654 OMIM:618012 OMIM:615268 ORPHA:847 OMIM:301040 ORPHA:98756 ORPHA:94147 OMIM:250950 ORPHA:709 OMIM:261540 ORPHA:101006 OMIM:609195 ORPHA:904 OMIM:300475 ORPHA:369939 OMIM:619641 OMIM:124000 OMIM:618291 OMIM:619325 OMIM:607932 ORPHA:1340 OMIM:115150 ORPHA:199 OMIM:615924 ORPHA:363400 OMIM:253260 OMIM:105550 ORPHA:275864 ORPHA:100070 OMIM:618497 OMIM:618285 OMIM:614756 ORPHA:314647 OMIM:618891 ORPHA:33364 ORPHA:477774 OMIM:616672 ORPHA:163937 ORPHA:1606 OMIM:618268 OMIM:616737 ORPHA:231169 OMIM:618916 OMIM:615911 OMIM:600795 ORPHA:3463 ORPHA:420492 ORPHA:485350 OMIM:300114 OMIM:204200 ORPHA:228346 ORPHA:228360 OMIM:204300 OMIM:600143 OMIM:610003 ORPHA:1947 OMIM:615803 ORPHA:445038 OMIM:616271 OMIM:301008 OMIM:616286 ORPHA:263508 OMIM:611209 ORPHA:435934 OMIM:617395 ORPHA:263501 OMIM:613489 ORPHA:263487 OMIM:613612 OMIM:614576 OMIM:608779 OMIM:267750 OMIM:618360 OMIM:607426 OMIM:614654 ORPHA:550 OMIM:619060 OMIM:614418 OMIM:617976 OMIM:619876 OMIM:604168 ORPHA:48431 OMIM:219800 OMIM:610127 OMIM:615362 ORPHA:166035 ORPHA:621 OMIM:618008 OMIM:213700 ORPHA:137898 ORPHA:84081 ORPHA:910 OMIM:251880 OMIM:617070 OMIM:270400 OMIM:613839 OMIM:617804 OMIM:160900 ORPHA:411602 OMIM:616192 ORPHA:445062 OMIM:616346 ORPHA:330050 OMIM:614388 ORPHA:314404 OMIM:614116 OMIM:614219 ORPHA:411986 ORPHA:86309 ORPHA:79322 OMIM:274270 ORPHA:1675 OMIM:615539 OMIM:619847 OMIM:618492 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:616393 ORPHA:96147 OMIM:618877 OMIM:133190 OMIM:616875 ORPHA:480898 OMIM:269160 ORPHA:1493 OMIM:617951 ORPHA:1466 OMIM:214150 OMIM:133540 OMIM:278800 OMIM:216400 OMIM:619072 OMIM:619304 OMIM:614678 OMIM:619576 OMIM:616081 OMIM:618065 ORPHA:171629 ORPHA:306550 OMIM:613759 OMIM:616154 OMIM:614946 OMIM:613658 OMIM:618855 ORPHA:404451 OMIM:615471 OMIM:619777 ORPHA:543470 OMIM:301058 ORPHA:2396 OMIM:606812 ORPHA:370968 ORPHA:2308 ORPHA:908 OMIM:300623 ORPHA:93256 OMIM:300983 OMIM:616981 OMIM:230000 OMIM:618559 OMIM:619124 ORPHA:206436 OMIM:245200 OMIM:230900 ORPHA:352641 ORPHA:320391 OMIM:614409 OMIM:618369 ORPHA:565624 OMIM:608804 ORPHA:79255 OMIM:230600 OMIM:230650 OMIM:611890 OMIM:220120 ORPHA:309246 OMIM:272750 OMIM:615473 OMIM:617493 OMIM:185300 ORPHA:3205 OMIM:252500 OMIM:619603 OMIM:618721 ORPHA:2570 OMIM:618917 OMIM:300699 OMIM:617864 OMIM:614254 OMIM:617820 ORPHA:289266 OMIM:617162 OMIM:618922 OMIM:607485 OMIM:617065 OMIM:619720 OMIM:616756 ORPHA:464282 OMIM:619797 OMIM:617268 OMIM:613925 OMIM:617011 ORPHA:457359 ORPHA:309155 ORPHA:309162 ORPHA:531 OMIM:616977 ORPHA:261265 OMIM:137920 OMIM:218040 ORPHA:3071 ORPHA:391428 OMIM:300438 ORPHA:199354 OMIM:617248 ORPHA:399 OMIM:617435 OMIM:309590 OMIM:616007 OMIM:615330 OMIM:615846 ORPHA:464 OMIM:618088 OMIM:616647 ORPHA:98934 OMIM:612900 OMIM:618729 ORPHA:439218 OMIM:614959 OMIM:611726 ORPHA:263516 ORPHA:2322 OMIM:617296 OMIM:614255 ORPHA:2836 ORPHA:397946 ORPHA:166024 OMIM:301006 OMIM:614462 OMIM:617668 ORPHA:79243 OMIM:619486 OMIM:615838 ORPHA:1272 OMIM:601088 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:248500 ORPHA:309288 ORPHA:309282 OMIM:618443 OMIM:601104 ORPHA:314603 OMIM:616430 OMIM:611390 ORPHA:2273 OMIM:617339 OMIM:312750 ORPHA:508093 OMIM:613668 ORPHA:464738 OMIM:619286 ORPHA:228384 OMIM:610951 OMIM:619527 ORPHA:79282 OMIM:277400 OMIM:277410 OMIM:252150 OMIM:252160 OMIM:606056 OMIM:619090 OMIM:609180 OMIM:234050 OMIM:618567 OMIM:250940 OMIM:236270 OMIM:174000 ORPHA:29 OMIM:610377 ORPHA:33445 OMIM:616521 OMIM:300855 ORPHA:276432 OMIM:617393 ORPHA:500545 OMIM:616034 OMIM:609242 OMIM:616266 OMIM:610442 OMIM:618321 ORPHA:2177 ORPHA:649 OMIM:618235 OMIM:619272 OMIM:618247 OMIM:617892 OMIM:618374 ORPHA:85277 ORPHA:447980 OMIM:602535 ORPHA:404454 ORPHA:527497 OMIM:619260 OMIM:270100 OMIM:618859 OMIM:618875 OMIM:618426 OMIM:617082 OMIM:618637 ORPHA:1229 OMIM:311200 OMIM:619701 ORPHA:137831 OMIM:617729 ORPHA:85179 OMIM:259720 ORPHA:505237 OMIM:618437 OMIM:606054 OMIM:619880 OMIM:261680 OMIM:608027 OMIM:618770 OMIM:615665 OMIM:312170 ORPHA:255182 OMIM:214100 OMIM:614886 OMIM:215100 ORPHA:401820 OMIM:615802 OMIM:614207 OMIM:618298 OMIM:300868 OMIM:301072 OMIM:616917 ORPHA:3474 OMIM:280000 ORPHA:2059 OMIM:614080 OMIM:618143 OMIM:615398 OMIM:618590 OMIM:239300 OMIM:619405 ORPHA:199351 OMIM:256600 OMIM:610217 OMIM:612953 OMIM:617527 ORPHA:2518 OMIM:616171 ORPHA:1170 ORPHA:468678 OMIM:616364 OMIM:301030 ORPHA:254886 OMIM:619425 OMIM:607694 ORPHA:447896 OMIM:613156 ORPHA:206559 OMIM:620024 OMIM:604326 ORPHA:98762 OMIM:617711 OMIM:256730 OMIM:309500 ORPHA:412066 OMIM:600116 ORPHA:157941 OMIM:617481 ORPHA:544469 OMIM:614023 OMIM:619057 OMIM:615583 OMIM:617051 ORPHA:488627 OMIM:616420 OMIM:615760 ORPHA:2510 OMIM:614222 OMIM:201000 ORPHA:1387 OMIM:600118 ORPHA:401830 OMIM:618797 ORPHA:438114 OMIM:611523 OMIM:619690 OMIM:617916 ORPHA:244310 OMIM:618004 OMIM:614922 OMIM:610333 OMIM:610181 OMIM:616260 OMIM:212840 ORPHA:353298 OMIM:619487 OMIM:226750 ORPHA:192 ORPHA:468631 ORPHA:98 OMIM:607330 OMIM:607208 OMIM:614558 OMIM:604377 OMIM:618766 OMIM:613811 OMIM:604218 OMIM:269150 ORPHA:798 OMIM:619922 OMIM:616645 OMIM:269920 OMIM:617105 OMIM:616657 OMIM:238970 ORPHA:415 OMIM:609304 OMIM:612126 OMIM:614482 OMIM:300896 ORPHA:356961 OMIM:266265 ORPHA:99843 ORPHA:521406 OMIM:617013 ORPHA:37 OMIM:616721 ORPHA:468699 OMIM:618973 ORPHA:85278 OMIM:616920 OMIM:105830 ORPHA:177907 OMIM:616354 OMIM:609136 ORPHA:457351 ORPHA:2822 OMIM:604360 ORPHA:101001 OMIM:607259 ORPHA:99013 OMIM:613477 OMIM:616437 OMIM:617635 OMIM:614261 ORPHA:412057 OMIM:612164 OMIM:612073 ORPHA:17 OMIM:245400 OMIM:272200 OMIM:272300 OMIM:619461 OMIM:615599 ORPHA:397951 OMIM:616878 OMIM:615918 OMIM:615663 OMIM:220500 OMIM:615338 ORPHA:352596 ORPHA:496641 OMIM:617193 OMIM:616900 OMIM:616439 OMIM:607136 ORPHA:98759 OMIM:258860 ORPHA:2753 OMIM:607250 ORPHA:320385 OMIM:615031 OMIM:618213 OMIM:619908 ORPHA:505216 OMIM:617698 OMIM:609560 ORPHA:1394 OMIM:620075 ORPHA:1194 OMIM:618730 OMIM:614969 OMIM:617730 OMIM:615512 OMIM:204500 OMIM:618164 OMIM:618201 ORPHA:369847 OMIM:615356 ORPHA:500144 OMIM:617669 OMIM:618331 OMIM:617862 ORPHA:352530 ORPHA:2770 OMIM:618193 OMIM:225750 OMIM:619428 OMIM:617873 OMIM:616084 OMIM:618454 OMIM:617026 OMIM:612389 OMIM:277470 OMIM:615157 OMIM:619534 OMIM:619244 OMIM:251270 OMIM:271245 OMIM:609286 OMIM:221770 OMIM:617132 ORPHA:500180 OMIM:617672 OMIM:615491 OMIM:617899 OMIM:618744 OMIM:616801 OMIM:619279 OMIM:617802 OMIM:167320 ORPHA:2388 OMIM:616840 OMIM:619291 OMIM:619273 OMIM:615851 OMIM:607596 OMIM:617710 ORPHA:572798 ORPHA:329284 OMIM:300894 OMIM:251300 OMIM:222300 OMIM:618453 OMIM:616211 OMIM:619125 OMIM:619609 OMIM:314580 OMIM:618659 OMIM:615095
 

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