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 H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0002059HP:0002059Cerebral atrophy0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
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 H32655173ORPHA:3071Costello syndrome113
HP:0002059HP:0002059Cerebral atrophy0HRAS CL E G H32655173OMIM:218040Costello syndrome.113
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 H1016610985ORPHA:415Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome88
HP:0002059HP:0002059Cerebral atrophy0SLC25A15 CL E G H1016610985OMIM:238970Hyperornithinemia-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 atrophy