Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the nervous system (HP:0000707)help
Parent Node:
expand
Abnormal nervous system physiology (HP:0012638)help
..Starting node
..expand
Encephalopathy (HP:0001298)help
Term ID: 1298
Name: Encephalopathy
Synonym:
Definition: Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.
Comments:
Reference: HP:0001298
Genes and Diseases:
 
       Child Nodes:
........expandProgressive encephalopathy (HP:0002448) help
........expandHepatic encephalopathy (HP:0002480) help
................... HP:0007111 Chronic hepatic encephalopathy
........expandMitochondrial encephalopathy (HP:0006789) help
........expandAcute encephalopathy (HP:0006846) help
................... HP:0006965 Acute necrotizing encephalopathy
........expandHypoglycemic encephalopathy (HP:0006929) help
........expandNecrotizing encephalopathy (HP:0006976) help
........expandNonprogressive encephalopathy (HP:0007030) help
................... HP:0007069 Profound static encephalopathy
........expandInfantile encephalopathy (HP:0007105) help
........expandCongenital encephalopathy (HP:0007239) help
........expandRecurrent encephalopathy (HP:0007335) help
........expandEpileptic encephalopathy (HP:0200134) help

 Sister Nodes: 
..expandAbnormal brain positron emission tomography (HP:0012657) help
..expandAbnormal central motor function (HP:0011442) help
..expandAbnormal central sensory function (HP:0011730) help
..expandAbnormal hypothalamus physiology (HP:0012285) help
..expandAbnormal metabolic brain imaging by MRS (HP:0012705) help
..expandAbnormal nervous system electrophysiology (HP:0001311) help
..expandAbnormal synaptic transmission (HP:0012535) help
..expandAbnormality of higher mental function (HP:0011446) help
..expandAbnormality of intracranial pressure (HP:0012640) help
..expandAbnormality of movement (HP:0100022) help
..expandAbnormality of pineal physiology (HP:0012688) help
..expandAbnormality of taste sensation (HP:0000223) help
..expandAbnormality of the sense of smell (HP:0004408) help
..expandBehavioral abnormality (HP:0000708) help
..expandBulbar palsy (HP:0001283) help
..expandBulbar signs (HP:0002483) help
..expandCataplexy (HP:0002524) help
..expandDysphagia (HP:0002015) help
..expandEasy fatigability (HP:0003388) help
..expandHeadache (HP:0002315) help
..expandHypocalcemic tetany (HP:0003472) help
..expandNeurodevelopmental abnormality (HP:0012759) help
..expandPseudobulbar signs (HP:0002200) help
..expandSeizure (HP:0001250) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001298HP:0001298Encephalopathy0AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0001298Encephalopathy0AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0001298Encephalopathy0ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0001298Encephalopathy0ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0001298Encephalopathy0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0001298Encephalopathy0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0001298Encephalopathy0ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0001298Encephalopathy0ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0001298Encephalopathy0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0001298Encephalopathy0AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0001298Encephalopathy0AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0001298Encephalopathy0AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0001298Encephalopathy0ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0001298Encephalopathy0ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0001298Encephalopathy0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0001298Encephalopathy0ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0001298Encephalopathy0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0001298Encephalopathy0ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0001298Encephalopathy0ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0001298Encephalopathy0ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0001298Encephalopathy0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0001298Encephalopathy0ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0001298Encephalopathy0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0001298Encephalopathy0ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0001298Encephalopathy0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0001298Encephalopathy0ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0001298Encephalopathy0ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0001298Encephalopathy0ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0001298Encephalopathy0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0001298Encephalopathy0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0001298Encephalopathy0CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0001298Encephalopathy0CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0001298Encephalopathy0CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0001298Encephalopathy0CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0001298Encephalopathy0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0001298Encephalopathy0CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0001298Encephalopathy0CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0001298Encephalopathy0CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0001298Encephalopathy0CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0001298Encephalopathy0CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001298HP:0001298Encephalopathy0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM115618623606979
HP:0001298HP:0001298Encephalopathy0COG8 CL E G H84342611182Congenital disorder of glycosylation type 2H611182C1970021OMIM117718623606979
HP:0001298HP:0001298Encephalopathy0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM117125223609825
HP:0001298HP:0001298Encephalopathy0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM113725223609825
HP:0001298HP:0001298Encephalopathy0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM116425302612837
HP:0001298HP:0001298Encephalopathy0COQ9 CL E G H57017614654Coenzyme Q10 deficiency, primary, 5614654C3553374OMIM112725302612837
HP:0001298HP:0001298Encephalopathy0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12162263603646
HP:0001298HP:0001298Encephalopathy0COX15 CL E G H1355615119Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2615119C3554534OMIM12332263603646
HP:0001298HP:0001298Encephalopathy0CUX2 CL E G H233162382ORPHA16819347610648
HP:0001298HP:0001298Encephalopathy0CUX2 CL E G H233162382ORPHA17519347610648
HP:0001298HP:0001298Encephalopathy0CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM1942579123980
HP:0001298HP:0001298Encephalopathy0CYC1 CL E G H1537615453Mitochondrial complex III deficiency, nuclear type 6615453C3809553OMIM11002579123980
HP:0001298HP:0001298Encephalopathy0CYFIP2 CL E G H26999442835ORPHA117513760606323
HP:0001298HP:0001298Encephalopathy0CYFIP2 CL E G H26999442835ORPHA18413760606323
HP:0001298HP:0001298Encephalopathy0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11562858601465
HP:0001298HP:0001298Encephalopathy0DGUOK CL E G H1716251880Mitochondrial DNA-depletion syndrome 3, hepatocerebral251880C3151513OMIM11402858601465
HP:0001298HP:0001298Encephalopathy0DHDDS CL E G H79947442835ORPHA125620603608172
HP:0001298HP:0001298Encephalopathy0DHDDS CL E G H79947442835ORPHA119920603608172
HP:0001298HP:0001298Encephalopathy0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13552898238331
HP:0001298HP:0001298Encephalopathy0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM13292898238331
HP:0001298HP:0001298Encephalopathy0DNM1 CL E G H17592382ORPHA15062972602377
HP:0001298HP:0001298Encephalopathy0DNM1 CL E G H1759442835ORPHA15062972602377
HP:0001298HP:0001298Encephalopathy0DNM1 CL E G H17592382ORPHA14592972602377
HP:0001298HP:0001298Encephalopathy0DNM1 CL E G H1759442835ORPHA14592972602377
HP:0001298HP:0001298Encephalopathy0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM13322973603850
HP:0001298HP:0001298Encephalopathy0DNM1L CL E G H10059614388Encephalopathy due to defective mitochondrial and peroxisomal fission 1614388C3280660OMIM12632973603850
HP:0001298HP:0001298Encephalopathy0EEF1A2 CL E G H1917442835ORPHA14173192602959
HP:0001298HP:0001298Encephalopathy0EEF1A2 CL E G H1917442835ORPHA13823192602959
HP:0001298HP:0001298Encephalopathy0ETHE1 CL E G H2347451188ORPHA122623287608451
HP:0001298HP:0001298Encephalopathy0ETHE1 CL E G H2347451188ORPHA120423287608451
HP:0001298HP:0001298Encephalopathy0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM122623287608451
HP:0001298HP:0001298Encephalopathy0ETHE1 CL E G H23474602473Ethylmalonic encephalopathy602473C1865349OMIM120423287608451
HP:0001298HP:0001298Encephalopathy0FADD CL E G H8772306550ORPHA1693573602457
HP:0001298HP:0001298Encephalopathy0FADD CL E G H8772306550ORPHA1593573602457
HP:0001298HP:0001298Encephalopathy0FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM1693573602457
HP:0001298HP:0001298Encephalopathy0FADD CL E G H8772613759Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations613759C3151062OMIM1593573602457
HP:0001298HP:0001298Encephalopathy0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM147413601605654
HP:0001298HP:0001298Encephalopathy0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM145813601605654
HP:0001298HP:0001298Encephalopathy0FGF12 CL E G H2257442835ORPHA11633668601513
HP:0001298HP:0001298Encephalopathy0FGF12 CL E G H2257442835ORPHA11273668601513
HP:0001298HP:0001298Encephalopathy0GABRB2 CL E G H2561442835ORPHA13584082600232
HP:0001298HP:0001298Encephalopathy0GABRB2 CL E G H2561442835ORPHA13214082600232
HP:0001298HP:0001298Encephalopathy0GABRB3 CL E G H25622382ORPHA16454083137192
HP:0001298HP:0001298Encephalopathy0GABRB3 CL E G H25622382ORPHA16914083137192
HP:0001298HP:0001298Encephalopathy0GBA CL E G H262977261ORPHA12694177606463
HP:0001298HP:0001298Encephalopathy0GBA CL E G H262977261ORPHA12614177606463
HP:0001298HP:0001298Encephalopathy0GBA CL E G H262977260ORPHA12694177606463
HP:0001298HP:0001298Encephalopathy0GBA CL E G H262977260ORPHA12614177606463
HP:0001298HP:0001298Encephalopathy0GCDH CL E G H263925ORPHA15214189608801
HP:0001298HP:0001298Encephalopathy0GCDH CL E G H263925ORPHA14684189608801
HP:0001298HP:0001298Encephalopathy0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11574208238330
HP:0001298HP:0001298Encephalopathy0GCSH CL E G H2653605899Non-ketotic hyperglycinemia605899C0751748OMIM11514208238330
HP:0001298HP:0001298Encephalopathy0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM115234313238300
HP:0001298HP:0001298Encephalopathy0GLDC CL E G H2731605899Non-ketotic hyperglycinemia605899C0751748OMIM112744313238300
HP:0001298HP:0001298Encephalopathy0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM12074341138290
HP:0001298HP:0001298Encephalopathy0GLUL CL E G H2752610015Glutamine deficiency, congenital610015C1864910OMIM11924341138290
HP:0001298HP:0001298Encephalopathy0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM16724247610516
HP:0001298HP:0001298Encephalopathy0GLYCTK CL E G H132158220120Deficiency of glycerate kinase220120C1291386OMIM14924247610516
HP:0001298HP:0001298Encephalopathy0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM17618062138210
HP:0001298HP:0001298Encephalopathy0GPT2 CL E G H84706616281Mental retardation, autosomal recessive 49616281C4225388OMIM17418062138210
HP:0001298HP:0001298Encephalopathy0GRIN2D CL E G H2906442835ORPHA13164588602717
HP:0001298HP:0001298Encephalopathy0GRIN2D CL E G H2906442835ORPHA11284588602717
HP:0001298HP:0001298Encephalopathy0HCN1 CL E G H348980442835ORPHA15204845602780
HP:0001298HP:0001298Encephalopathy0HCN1 CL E G H348980442835ORPHA14454845602780
HP:0001298HP:0001298Encephalopathy0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM116127302615316
HP:0001298HP:0001298Encephalopathy0IBA57 CL E G H200205615330Multiple mitochondrial dysfunctions syndrome 3615330C3809165OMIM114027302615316
HP:0001298HP:0001298Encephalopathy0ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM11826176147520
HP:0001298HP:0001298Encephalopathy0ITPA CL E G H3704616647Epileptic encephalopathy, early infantile, 35616647C4225256OMIM12036176147520
HP:0001298HP:0001298Encephalopathy0KCNA2 CL E G H3737442835ORPHA12796220176262
HP:0001298HP:0001298Encephalopathy0KCNA2 CL E G H3737442835ORPHA12486220176262
HP:0001298HP:0001298Encephalopathy0KCNB1 CL E G H3745442835ORPHA14526231600397
HP:0001298HP:0001298Encephalopathy0KCNB1 CL E G H3745442835ORPHA14016231600397
HP:0001298HP:0001298Encephalopathy0KYNU CL E G H894279155ORPHA1546469605197
HP:0001298HP:0001298Encephalopathy0KYNU CL E G H894279155ORPHA1496469605197
HP:0001298HP:0001298Encephalopathy0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM126316429607031
HP:0001298HP:0001298Encephalopathy0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM130916429607031
HP:0001298HP:0001298Encephalopathy0LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM15037216617659
HP:0001298HP:0001298Encephalopathy0LIPT2 CL E G H387787617668ENCEPHALOPATHY, NEONATAL SEVERE, WITH LACTIC ACIDOSIS AND BRAIN ABNORMALITIES617668C4540052OMIM12737216617659
HP:0001298HP:0001298Encephalopathy0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM16628072615831
HP:0001298HP:0001298Encephalopathy0LYRM7 CL E G H90624615838Mitochondrial complex III deficiency, nuclear type 8615838C4014440OMIM16328072615831
HP:0001298HP:0001298Encephalopathy0MAPK10 CL E G H56022382ORPHA1646872602897
HP:0001298HP:0001298Encephalopathy0MAPK10 CL E G H56022382ORPHA1616872602897
HP:0001298HP:0001298Encephalopathy0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM116846990300005
HP:0001298HP:0001298Encephalopathy0MECP2 CL E G H4204300673Severe neonatal-onset encephalopathy with microcephaly300673C1968556OMIM116036990300005
HP:0001298HP:0001298Encephalopathy0MT-CO1 CL E G H4512540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17419516030
HP:0001298HP:0001298Encephalopathy0MT-CO2 CL E G H4513540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17421516040
HP:0001298HP:0001298Encephalopathy0MT-CO3 CL E G H4514540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17422516050
HP:0001298HP:0001298Encephalopathy0MT-CYB CL E G H4519540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17427516020
HP:0001298HP:0001298Encephalopathy0MT-ND1 CL E G H4535540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17455516000
HP:0001298HP:0001298Encephalopathy0MT-ND5 CL E G H4540540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17461516005
HP:0001298HP:0001298Encephalopathy0MT-ND6 CL E G H4541540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17462516006
HP:0001298HP:0001298Encephalopathy0MT-TC CL E G H4511540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17477590020
HP:0001298HP:0001298Encephalopathy0MT-TF CL E G H4558540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17481590070
HP:0001298HP:0001298Encephalopathy0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001298HP:0001298Encephalopathy0MT-TK CL E G H4566540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17489590060
HP:0001298HP:0001298Encephalopathy0MT-TL1 CL E G H4567540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17490590050
HP:0001298HP:0001298Encephalopathy0MT-TQ CL E G H4572540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17495590030
HP:0001298HP:0001298Encephalopathy0MT-TS1 CL E G H4574540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17497590080
HP:0001298HP:0001298Encephalopathy0MT-TS2 CL E G H4575540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17498590085
HP:0001298HP:0001298Encephalopathy0MT-TV CL E G H4577540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17500590105
HP:0001298HP:0001298Encephalopathy0MT-TW CL E G H4578540000Juvenile myopathy, encephalopathy, lactic acidosis AND stroke540000C0162671OMIM17501590095
HP:0001298HP:0001298Encephalopathy0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM114326404615787
HP:0001298HP:0001298Encephalopathy0NADK2 CL E G H1336866160342,4-Dienoyl-CoA reductase deficiency616034C1857252OMIM111326404615787
HP:0001298HP:0001298Encephalopathy0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM19118453608862
HP:0001298HP:0001298Encephalopathy0NAXE CL E G H128240617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy617186C4310675OMIM16118453608862
HP:0001298HP:0001298Encephalopathy0NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM19520371612638
HP:0001298HP:0001298Encephalopathy0NDUFA11 CL E G H126328618236MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14618236OMIM18120371612638
HP:0001298HP:0001298Encephalopathy0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1537690602138
HP:0001298HP:0001298Encephalopathy0NDUFA6 CL E G H4700618253MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 33618253OMIM1487690602138
HP:0001298HP:0001298Encephalopathy0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM110218828606934
HP:0001298HP:0001298Encephalopathy0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM19118828606934
HP:0001298HP:0001298Encephalopathy0NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM110928086609653
HP:0001298HP:0001298Encephalopathy0NDUFAF2 CL E G H91942618233MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10618233OMIM110228086609653
HP:0001298HP:0001298Encephalopathy0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM110921034611776
HP:0001298HP:0001298Encephalopathy0NDUFAF4 CL E G H29078618237MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15618237OMIM110321034611776
HP:0001298HP:0001298Encephalopathy0NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1567698603839
HP:0001298HP:0001298Encephalopathy0NDUFB3 CL E G H4709618246MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25618246OMIM1537698603839
HP:0001298HP:0001298Encephalopathy0NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM1917710603846
HP:0001298HP:0001298Encephalopathy0NDUFS3 CL E G H4722618230MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8618230OMIM1777710603846
HP:0001298HP:0001298Encephalopathy0NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM12507713603848
HP:0001298HP:0001298Encephalopathy0NDUFS6 CL E G H4726618232MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9618232OMIM12317713603848
HP:0001298HP:0001298Encephalopathy0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11427714601825
HP:0001298HP:0001298Encephalopathy0NDUFS7 CL E G H374291618224MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3618224OMIM11307714601825
HP:0001298HP:0001298Encephalopathy0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM11807717600532
HP:0001298HP:0001298Encephalopathy0NDUFV2 CL E G H4729618229MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7618229OMIM11637717600532
HP:0001298HP:0001298Encephalopathy0NECAP1 CL E G H25977442835ORPHA114424539611623
HP:0001298HP:0001298Encephalopathy0NECAP1 CL E G H25977442835ORPHA110224539611623
HP:0001298HP:0001298Encephalopathy0NTRK2 CL E G H4915442835ORPHA12028032600456
HP:0001298HP:0001298Encephalopathy0NTRK2 CL E G H4915442835ORPHA11168032600456
HP:0001298HP:0001298Encephalopathy0NUS1 CL E G H116150442835ORPHA114321042610463
HP:0001298HP:0001298Encephalopathy0NUS1 CL E G H116150442835ORPHA18621042610463
HP:0001298HP:0001298Encephalopathy0PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM126230260603287
HP:0001298HP:0001298Encephalopathy0PNPO CL E G H55163610090Pyridoxal 5'-phosphate-dependent epilepsy610090C1864723OMIM123130260603287
HP:0001298HP:0001298Encephalopathy0PPP3CA CL E G H5530442835ORPHA11359314114105
HP:0001298HP:0001298Encephalopathy0PPP3CA CL E G H5530442835ORPHA1679314114105
HP:0001298HP:0001298Encephalopathy0PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11469449176640
HP:0001298HP:0001298Encephalopathy0PRNP CL E G H5621606688Spongiform encephalopathy with neuropsychiatric features606688C1847650OMIM11319449176640
HP:0001298HP:0001298Encephalopathy0RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM127225671610326
HP:0001298HP:0001298Encephalopathy0RNASEH2B CL E G H79621610181Aicardi Goutieres syndrome 2610181C3489724OMIM119725671610326
HP:0001298HP:0001298Encephalopathy0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM119124116610330
HP:0001298HP:0001298Encephalopathy0RNASEH2C CL E G H84153610329Aicardi Goutieres syndrome 3610329C1835916OMIM114724116610330
HP:0001298HP:0001298Encephalopathy0SCN1A CL E G H63232382ORPHA1271310585182389
HP:0001298HP:0001298Encephalopathy0SCN1A CL E G H63232382ORPHA1307610585182389
HP:0001298HP:0001298Encephalopathy0SCN3A CL E G H6328442835ORPHA189710590182391
HP:0001298HP:0001298Encephalopathy0SCN3A CL E G H6328442835ORPHA174210590182391
HP:0001298HP:0001298Encephalopathy0SCN8A CL E G H6334442835ORPHA1128510596600702
HP:0001298HP:0001298Encephalopathy0SCN8A CL E G H6334442835ORPHA1111910596600702
HP:0001298HP:0001298Encephalopathy0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM124921061614725
HP:0001298HP:0001298Encephalopathy0SERAC1 CL E G H849476147393-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739C3553597OMIM128321061614725
HP:0001298HP:0001298Encephalopathy0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM12278943602445
HP:0001298HP:0001298Encephalopathy0SERPINI1 CL E G H5274604218Encephalopathy, familial, with neuroserpin inclusion bodies604218C1858680OMIM11888943602445
HP:0001298HP:0001298Encephalopathy0SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM156611142605705
HP:0001298HP:0001298Encephalopathy0SIK1 CL E G H150094616341Epileptic encephalopathy, early infantile, 30616341C4225360OMIM166711142605705
HP:0001298HP:0001298Encephalopathy0SLC13A5 CL E G H284111442835ORPHA149123089608305
HP:0001298HP:0001298Encephalopathy0SLC13A5 CL E G H284111442835ORPHA143523089608305
HP:0001298HP:0001298Encephalopathy0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM146116266606152
HP:0001298HP:0001298Encephalopathy0SLC19A3 CL E G H80704607483Basal ganglia disease, biotin-responsive607483C1843807OMIM140016266606152
HP:0001298HP:0001298Encephalopathy0SLC1A2 CL E G H6506442835ORPHA17210940600300
HP:0001298HP:0001298Encephalopathy0SLC1A2 CL E G H6506442835ORPHA113310940600300
HP:0001298HP:0001298Encephalopathy0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM173310969603377
HP:0001298HP:0001298Encephalopathy0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM162610969603377
HP:0001298HP:0001298Encephalopathy0SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM149810979190315
HP:0001298HP:0001298Encephalopathy0SLC25A1 CL E G H6576615182Combined d-2- and l-2-hydroxyglutaric aciduria615182C2746066OMIM147010979190315
HP:0001298HP:0001298Encephalopathy0SLC25A20 CL E G H788159ORPHA11341421613698
HP:0001298HP:0001298Encephalopathy0SLC25A20 CL E G H788159ORPHA11181421613698
HP:0001298HP:0001298Encephalopathy0SLC2A1 CL E G H651371277ORPHA175311005138140
HP:0001298HP:0001298Encephalopathy0SLC2A1 CL E G H651371277ORPHA167211005138140
HP:0001298HP:0001298Encephalopathy0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM19711021605634
HP:0001298HP:0001298Encephalopathy0SLC35A1 CL E G H10559603585Congenital disorder of glycosylation type 2F603585C1970344OMIM19111021605634
HP:0001298HP:0001298Encephalopathy0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM112611056601019
HP:0001298HP:0001298Encephalopathy0SLC6A9 CL E G H6536617301Glycine encephalopathy with normal serum glycine617301C4310943OMIM19111056601019
HP:0001298HP:0001298Encephalopathy0STXBP1 CL E G H6812442835ORPHA177911444602926
HP:0001298HP:0001298Encephalopathy0STXBP1 CL E G H6812442835ORPHA171411444602926
HP:0001298HP:0001298Encephalopathy0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM119011449611224
HP:0001298HP:0001298Encephalopathy0SUCLG1 CL E G H8802245400Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)245400C3151476OMIM116411449611224
HP:0001298HP:0001298Encephalopathy0SYNGAP1 CL E G H8831442835ORPHA182811497603384
HP:0001298HP:0001298Encephalopathy0SYNGAP1 CL E G H8831442835ORPHA192811497603384
HP:0001298HP:0001298Encephalopathy0SYNJ1 CL E G H8867442835ORPHA190911503604297
HP:0001298HP:0001298Encephalopathy0SYNJ1 CL E G H8867442835ORPHA173011503604297
HP:0001298HP:0001298Encephalopathy0SZT2 CL E G H23334442835ORPHA1165229040615463
HP:0001298HP:0001298Encephalopathy0SZT2 CL E G H23334442835ORPHA1196729040615463
HP:0001298HP:0001298Encephalopathy0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM130311581604649
HP:0001298HP:0001298Encephalopathy0TBCD CL E G H6904617193Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum617193C4310671OMIM136211581604649
HP:0001298HP:0001298Encephalopathy0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM130111582604934
HP:0001298HP:0001298Encephalopathy0TBCE CL E G H6905617207Encephalopathy, progressive, with amyotrophy and optic atrophy617207C4310667OMIM126111582604934
HP:0001298HP:0001298Encephalopathy0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM135328261616899
HP:0001298HP:0001298Encephalopathy0TBCK CL E G H93627616900Hypotonia, infantile, with psychomotor retardation and characteristic facies 3616900C4225161OMIM117928261616899
HP:0001298HP:0001298Encephalopathy0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM175611634602272
HP:0001298HP:0001298Encephalopathy0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM181211634602272
HP:0001298HP:0001298Encephalopathy0TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM112811766190180
HP:0001298HP:0001298Encephalopathy0TGFB1 CL E G H7040618213INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY618213OMIM17411766190180
HP:0001298HP:0001298Encephalopathy0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM117626050612418
HP:0001298HP:0001298Encephalopathy0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM122026050612418
HP:0001298HP:0001298Encephalopathy0TRAK1 CL E G H22906442835ORPHA17129947608112
HP:0001298HP:0001298Encephalopathy0TRAK1 CL E G H22906442835ORPHA14029947608112
HP:0001298HP:0001298Encephalopathy0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM17129947608112
HP:0001298HP:0001298Encephalopathy0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM14029947608112
HP:0001298HP:0001298Encephalopathy0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM17824284614139
HP:0001298HP:0001298Encephalopathy0TRAPPC12 CL E G H51112617669ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY617669C4540059OMIM16224284614139
HP:0001298HP:0001298Encephalopathy0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM15920286617840
HP:0001298HP:0001298Encephalopathy0TRIT1 CL E G H54802617873COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35617873CN807948OMIM15420286617840
HP:0001298HP:0001298Encephalopathy0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM124412367604723
HP:0001298HP:0001298Encephalopathy0TSFM CL E G H10102610505Combined oxidative phosphorylation deficiency 3610505C1864840OMIM118312367604723
HP:0001298HP:0001298Encephalopathy0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM125812420602389
HP:0001298HP:0001298Encephalopathy0TUFM CL E G H7284610678Combined oxidative phosphorylation deficiency 4610678C1857682OMIM123112420602389
HP:0001298HP:0001298Encephalopathy0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM12701160606075
HP:0001298HP:0001298Encephalopathy0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM12341160606075
HP:0001298HP:0001298Encephalopathy0UBA5 CL E G H79876442835ORPHA15823230610552
HP:0001298HP:0001298Encephalopathy0UBA5 CL E G H79876442835ORPHA110923230610552
HP:0001298HP:0001298Encephalopathy0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM15823230610552
HP:0001298HP:0001298Encephalopathy0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM110923230610552
HP:0001298HP:0001298Encephalopathy0UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM124012530191740
HP:0001298HP:0001298Encephalopathy0UGT1A1 CL E G H54658218800Crigler Najjar syndrome, type 1218800OMIM120712530191740
HP:0001298HP:0001298Encephalopathy0WWOX CL E G H51741442835ORPHA187912799605131
HP:0001298HP:0001298Encephalopathy0WWOX CL E G H51741442835ORPHA176712799605131
HP:0001298HP:0001298Encephalopathy0YWHAG CL E G H7532442835ORPHA15912852605356
HP:0001298HP:0001298Encephalopathy0YWHAG CL E G H7532442835ORPHA17812852605356
HP:0001298HP:0006976Necrotizing encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007335Recurrent encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0006789Mitochondrial encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0002448Progressive encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0006846Acute encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0002480Hepatic encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007105Infantile encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0200134Epileptic encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0006929Hypoglycemic encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007030Nonprogressive encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0007239Congenital encephalopathy1AARS CL E G H16442835ORPHA120601065
HP:0001298HP:0200134Epileptic encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0007105Infantile encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0007239Congenital encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0006929Hypoglycemic encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0007030Nonprogressive encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0006976Necrotizing encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0007335Recurrent encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0006846Acute encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0002480Hepatic encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0006789Mitochondrial encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0002448Progressive encephalopathy1AARS CL E G H16616339Epileptic encephalopathy, early infantile, 29616339C4225361OMIM120601065
HP:0001298HP:0200134Epileptic encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0007335Recurrent encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0007105Infantile encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0006976Necrotizing encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0200134Epileptic encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0007335Recurrent encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0007105Infantile encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0006976Necrotizing encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0007239Congenital encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0002448Progressive encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0002480Hepatic encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0006929Hypoglycemic encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0006789Mitochondrial encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0006846Acute encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0007030Nonprogressive encephalopathy1ACAD9 CL E G H2897699901ORPHA147821497611103
HP:0001298HP:0007239Congenital encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0002448Progressive encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0002480Hepatic encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0006929Hypoglycemic encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0006789Mitochondrial encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0006846Acute encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0007030Nonprogressive encephalopathy1ACAD9 CL E G H2897699901ORPHA142721497611103
HP:0001298HP:0200134Epileptic encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0007335Recurrent encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0007105Infantile encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0006976Necrotizing encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0007239Congenital encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0002448Progressive encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0002480Hepatic encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0006929Hypoglycemic encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0006789Mitochondrial encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0006846Acute encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0007030Nonprogressive encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0007239Congenital encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0002448Progressive encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0002480Hepatic encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0006929Hypoglycemic encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0006789Mitochondrial encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0006846Acute encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0007030Nonprogressive encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM142721497611103
HP:0001298HP:0200134Epileptic encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0007335Recurrent encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0007105Infantile encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0006976Necrotizing encephalopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM147821497611103
HP:0001298HP:0006929Hypoglycemic encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0006789Mitochondrial encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0006846Acute encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0007030Nonprogressive encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0007239Congenital encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0002448Progressive encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0002480Hepatic encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0006929Hypoglycemic encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0006789Mitochondrial encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0006846Acute encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0007030Nonprogressive encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0007239Congenital encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0002448Progressive encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0002480Hepatic encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0007105Infantile encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0006976Necrotizing encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0200134Epileptic encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0007335Recurrent encephalopathy1ACY1 CL E G H95137754ORPHA178177104620
HP:0001298HP:0007105Infantile encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0006976Necrotizing encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0200134Epileptic encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0007335Recurrent encephalopathy1ACY1 CL E G H95137754ORPHA163177104620
HP:0001298HP:0200134Epileptic encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0007335Recurrent encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0007105Infantile encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0006976Necrotizing encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0200134Epileptic encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0007335Recurrent encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0007105Infantile encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0006976Necrotizing encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0007030Nonprogressive encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0007239Congenital encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0002448Progressive encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0002480Hepatic encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0006929Hypoglycemic encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0006789Mitochondrial encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0006846Acute encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1382473238310
HP:0001298HP:0007239Congenital encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0002448Progressive encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0002480Hepatic encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0006929Hypoglycemic encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0006789Mitochondrial encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0006846Acute encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0007030Nonprogressive encephalopathy1AMT CL E G H275605899Non-ketotic hyperglycinemia605899C0751748OMIM1321473238310
HP:0001298HP:0007105Infantile encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0006976Necrotizing encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0200134Epileptic encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0007335Recurrent encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0006929Hypoglycemic encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0006789Mitochondrial encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0006846Acute encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0007030Nonprogressive encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0007239Congenital encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0002448Progressive encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0002480Hepatic encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0006929Hypoglycemic encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0006789Mitochondrial encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0006846Acute encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0007030Nonprogressive encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0007239Congenital encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0002448Progressive encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0002480Hepatic encephalopathy1AP3B2 CL E G H8120442835ORPHA1117567602166
HP:0001298HP:0007105Infantile encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0006976Necrotizing encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0200134Epileptic encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0007335Recurrent encephalopathy1AP3B2 CL E G H8120442835ORPHA1288567602166
HP:0001298HP:0006846Acute encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0007030Nonprogressive encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0007239Congenital encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0002448Progressive encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0002480Hepatic encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0006929Hypoglycemic encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0006789Mitochondrial encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0006976Necrotizing encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0200134Epileptic encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0007335Recurrent encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0007105Infantile encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0006976Necrotizing encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0200134Epileptic encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0007335Recurrent encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0007105Infantile encephalopathy1ARV1 CL E G H64801442835ORPHA16229561611647
HP:0001298HP:0006789Mitochondrial encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0006846Acute encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0007030Nonprogressive encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0007239Congenital encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0002448Progressive encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0002480Hepatic encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0006929Hypoglycemic encephalopathy1ARV1 CL E G H64801442835ORPHA16529561611647
HP:0001298HP:0007030Nonprogressive encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0002448Progressive encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0002480Hepatic encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0006929Hypoglycemic encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0006789Mitochondrial encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0007239Congenital encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0002480Hepatic encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0006846Acute encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0007030Nonprogressive encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0002448Progressive encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0006929Hypoglycemic encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0006789Mitochondrial encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0200134Epileptic encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0006976Necrotizing encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0007335Recurrent encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0007105Infantile encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0200134Epileptic encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0007335Recurrent encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0007105Infantile encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0006976Necrotizing encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1245753108370
HP:0001298HP:0006846Acute encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0007239Congenital encephalopathy1ASNS CL E G H440615574Asparagine synthetase deficiency615574C3809971OMIM1332753108370
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0006789Mitochondrial encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0006846Acute encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0007030Nonprogressive encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0007239Congenital encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0002448Progressive encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0002480Hepatic encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0006789Mitochondrial encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0006846Acute encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0007030Nonprogressive encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0007239Congenital encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0002448Progressive encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0002480Hepatic encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0007105Infantile encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0006976Necrotizing encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0200134Epileptic encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0007335Recurrent encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM17625903614452
HP:0001298HP:0007105Infantile encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0006976Necrotizing encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0200134Epileptic encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0007335Recurrent encephalopathy1ATAD1 CL E G H84896618011HYPEREKPLEXIA 4618011CN248518OMIM12725903614452
HP:0001298HP:0006976Necrotizing encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0200134Epileptic encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0007335Recurrent encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0007105Infantile encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0006976Necrotizing encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0200134Epileptic encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0007335Recurrent encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0007105Infantile encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0006846Acute encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0007239Congenital encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0002448Progressive encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0002480Hepatic encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP1A3 CL E G H4781171ORPHA1687801182350
HP:0001298HP:0006846Acute encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0007239Congenital encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0002448Progressive encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0002480Hepatic encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP1A3 CL E G H4781171ORPHA1625801182350
HP:0001298HP:0006976Necrotizing encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0200134Epileptic encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0007335Recurrent encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0007105Infantile encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0006976Necrotizing encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0200134Epileptic encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0007335Recurrent encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0007105Infantile encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0006846Acute encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0007239Congenital encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0002448Progressive encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0002480Hepatic encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1149823164360
HP:0001298HP:0006846Acute encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0007239Congenital encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0002448Progressive encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0002480Hepatic encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP5F1A CL E G H498616045Combined oxidative phosphorylation deficiency 22616045C4015062OMIM1147823164360
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0006846Acute encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0007239Congenital encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0002448Progressive encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0002480Hepatic encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0007335Recurrent encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0007105Infantile encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0006976Necrotizing encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0200134Epileptic encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0007105Infantile encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0006976Necrotizing encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0200134Epileptic encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0007335Recurrent encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1147823164360
HP:0001298HP:0002480Hepatic encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0006846Acute encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0007239Congenital encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0002448Progressive encephalopathy1ATP5F1A CL E G H498615228Mitochondrial complex v (atp synthase) deficiency, nuclear type 4615228C3808899OMIM1149823164360
HP:0001298HP:0006976Necrotizing encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0200134Epileptic encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0007335Recurrent encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0007105Infantile encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0006976Necrotizing encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0200134Epileptic encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0007335Recurrent encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0007105Infantile encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0006846Acute encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0007239Congenital encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0002448Progressive encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0002480Hepatic encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM144837603150
HP:0001298HP:0006846Acute encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0007239Congenital encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0002448Progressive encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0002480Hepatic encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP5F1D CL E G H513618120MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5618120CN253835OMIM142837603150
HP:0001298HP:0200134Epileptic encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0007335Recurrent encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0007105Infantile encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0006976Necrotizing encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0002448Progressive encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0002480Hepatic encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0006846Acute encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0007239Congenital encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0002448Progressive encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0002480Hepatic encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0006929Hypoglycemic encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0006789Mitochondrial encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0006846Acute encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0007030Nonprogressive encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0007239Congenital encephalopathy1ATP6V1A CL E G H523442835ORPHA179851607027
HP:0001298HP:0200134Epileptic encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0007335Recurrent encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0007105Infantile encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0006976Necrotizing encephalopathy1ATP6V1A CL E G H523442835ORPHA193851607027
HP:0001298HP:0200134Epileptic encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0007335Recurrent encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0007105Infantile encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0006976Necrotizing encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0200134Epileptic encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0007335Recurrent encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0007105Infantile encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0006976Necrotizing encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0007239Congenital encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0002448Progressive encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0002480Hepatic encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0006929Hypoglycemic encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0006789Mitochondrial encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0006846Acute encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0007030Nonprogressive encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM137315832606158
HP:0001298HP:0007239Congenital encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0002448Progressive encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0002480Hepatic encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0006929Hypoglycemic encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0006789Mitochondrial encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0006846Acute encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0007030Nonprogressive encephalopathy1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM133015832606158
HP:0001298HP:0006789Mitochondrial encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0006846Acute encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0007030Nonprogressive encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0007239Congenital encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0002448Progressive encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0002480Hepatic encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0006929Hypoglycemic encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0007105Infantile encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0006976Necrotizing encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0200134Epileptic encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0007335Recurrent encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0007105Infantile encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0006976Necrotizing encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0200134Epileptic encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0007335Recurrent encephalopathy1CACNA1A CL E G H773442835ORPHA120471388601011
HP:0001298HP:0006929Hypoglycemic encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0006789Mitochondrial encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0006846Acute encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0007030Nonprogressive encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0007239Congenital encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0002448Progressive encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0002480Hepatic encephalopathy1CACNA1A CL E G H773442835ORPHA123261388601011
HP:0001298HP:0007105Infantile encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0006976Necrotizing encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0200134Epileptic encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0007335Recurrent encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0006929Hypoglycemic encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0006789Mitochondrial encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0006846Acute encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0007030Nonprogressive encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0007239Congenital encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0002448Progressive encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0002480Hepatic encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0006929Hypoglycemic encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0006789Mitochondrial encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0006846Acute encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0007030Nonprogressive encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0007239Congenital encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0002448Progressive encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0002480Hepatic encephalopathy1CHD2 CL E G H11062382ORPHA111631917602119
HP:0001298HP:0007105Infantile encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0006976Necrotizing encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0200134Epileptic encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0007335Recurrent encephalopathy1CHD2 CL E G H11062382ORPHA113261917602119
HP:0001298HP:0200134Epileptic encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0007335Recurrent encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0007105Infantile encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0006976Necrotizing encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0007335Recurrent encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0007105Infantile encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0006976Necrotizing encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0200134Epileptic encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0002480Hepatic encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0006929Hypoglycemic encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0006789Mitochondrial encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0006846Acute encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0007030Nonprogressive encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0007239Congenital encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0002448Progressive encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14916999608757
HP:0001298HP:0002480Hepatic encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0006929Hypoglycemic encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0006789Mitochondrial encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0006846Acute encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0007030Nonprogressive encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0007239Congenital encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0002448Progressive encephalopathy1CLP1 CL E G H10978615803Pontocerebellar hypoplasia, type 10615803C4014347OMIM14016999608757
HP:0001298HP:0200134Epileptic encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0007335Recurrent encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0007105Infantile encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0006976Necrotizing encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0007030Nonprogressive encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0007239Congenital encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0002448Progressive encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0002480Hepatic encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0006929Hypoglycemic encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0006789Mitochondrial encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0006846Acute encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0007030Nonprogressive encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0007239Congenital encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0002448Progressive encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0002480Hepatic encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0006929Hypoglycemic encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0006789Mitochondrial encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0006846Acute encephalopathy1CLTC CL E G H1213442835ORPHA11022092118955
HP:0001298HP:0200134Epileptic encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0007335Recurrent encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0007105Infantile encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0006976Necrotizing encephalopathy1CLTC CL E G H1213442835ORPHA12022092118955
HP:0001298HP:0006929Hypoglycemic encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0006789Mitochondrial encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0006846Acute encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0007030Nonprogressive encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0007239Congenital encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0002448Progressive encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0002480Hepatic encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0007105Infantile encephalopathy1CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001298HP:0006976Necrotizing encephalopathy1CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001298HP:0200134Epileptic encephalopathy1CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001298HP:0007335Recurrent encephalopathy1CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001298HP:0007105Infantile encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0006976Necrotizing encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0200134Epileptic encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0007335Recurrent encephalopathy1CNKSR2 CL E G H22866442835ORPHA124919701300724
HP:0001298HP:0002480Hepatic encephalopathy1CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001298HP:0006929Hypoglycemic encephalopathy1CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001298HP:0006789Mitochondrial encephalopathy1CNKSR2 CL E G H22866442835ORPHA125619701300724
HP:0001298HP:0006846Acute encephalopathy1CNKSR2 CL E G H