Human Phenotype Ontology 
Grandparent Node:
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Abnormality of higher mental function (HP:0011446)help
Parent Node:
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Cognitive impairment (HP:0100543)help
..Starting node
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Mental deterioration (HP:0001268)help
Term ID: 1268
Name: Mental deterioration
Synonym: Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline
Definition: Loss of previously present mental abilities, generally in adults.
Comments:
Reference: HP:0001268
Genes and Diseases:
 
       Child Nodes:
........expandDementia (HP:0000726) help
................... HP:0000727 Frontal lobe dementia
................... HP:0002145 Frontotemporal dementia
................... HP:0002439 Frontolimbic dementia
................... HP:0007123 Subcortical dementia
........expandMotor deterioration (HP:0002333) help
........expandProgressive neurologic deterioration (HP:0002344) help
................... HP:0007064 Progressive language deterioration
................... HP:0007272 Progressive psychomotor deterioration
................... HP:0007307 Rapid neurologic deterioration
........expandPsychomotor deterioration (HP:0002361) help
........expandSocial and occupational deterioration (HP:0007086) help

 Sister Nodes: 
..expandBradyphrenia (HP:0031843) help
..expandMemory impairment (HP:0002354) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001268HP:0001268Mental deterioration0ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0001268Mental deterioration0ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0001268Mental deterioration0AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0001268Mental deterioration0ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0001268Mental deterioration0ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0001268Mental deterioration0ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0001268Mental deterioration0ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0001268Mental deterioration0BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0001268Mental deterioration0C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0001268Mental deterioration0CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0001268Mental deterioration0CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0001268Mental deterioration0CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0001268Mental deterioration0CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0001268Mental deterioration0COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0001268Mental deterioration0CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0001268Mental deterioration0CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0001268Mental deterioration0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0001268Mental deterioration0CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0001268Mental deterioration0CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0001268Mental deterioration0DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0001268Mental deterioration0DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0001268Mental deterioration0ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0001268Mental deterioration0ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0001268Mental deterioration0FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0001268Mental deterioration0FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0001268Mental deterioration0GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0001268Mental deterioration0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0001268Mental deterioration0HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0001268Mental deterioration0MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0001268Mental deterioration0MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0001268Mental deterioration0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0001268Mental deterioration0NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0001268Mental deterioration0NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0001268Mental deterioration0PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0001268Mental deterioration0PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0001268Mental deterioration0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0001268Mental deterioration0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0001268Mental deterioration0PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0001268Mental deterioration0PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0001268Mental deterioration0PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0001268Mental deterioration0PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0001268Mental deterioration0SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0001268Mental deterioration0SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0001268Mental deterioration0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0001268Mental deterioration0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0001268Mental deterioration0SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0001268Mental deterioration0SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0001268Mental deterioration0SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0001268Mental deterioration0SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0001268Mental deterioration0SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0001268Mental deterioration0SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0001268Mental deterioration0TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0001268Mental deterioration0TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0001268Mental deterioration0TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0001268Mental deterioration0TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0001268Mental deterioration0UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0001268Mental deterioration0XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0002344Progressive neurologic deterioration1ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0002361Psychomotor deterioration1ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0002333Motor deterioration1ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0007086Social and occupational deterioration1ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0000726Dementia1ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0007086Social and occupational deterioration1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0000726Dementia1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0002344Progressive neurologic deterioration1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0002361Psychomotor deterioration1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0002333Motor deterioration1ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0002344Progressive neurologic deterioration1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0002361Psychomotor deterioration1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0002333Motor deterioration1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0007086Social and occupational deterioration1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0000726Dementia1AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0007086Social and occupational deterioration1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0000726Dementia1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0002361Psychomotor deterioration1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0002344Progressive neurologic deterioration1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0002333Motor deterioration1ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0002344Progressive neurologic deterioration1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0002361Psychomotor deterioration1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0002333Motor deterioration1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0000726Dementia1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0007086Social and occupational deterioration1ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0007086Social and occupational deterioration1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0000726Dementia1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0002361Psychomotor deterioration1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0002344Progressive neurologic deterioration1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0002333Motor deterioration1ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0000726Dementia1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0007086Social and occupational deterioration1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0002344Progressive neurologic deterioration1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0002361Psychomotor deterioration1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0002333Motor deterioration1ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0002344Progressive neurologic deterioration1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0002361Psychomotor deterioration1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0002333Motor deterioration1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0007086Social and occupational deterioration1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0000726Dementia1BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0000726Dementia1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0007086Social and occupational deterioration1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0002344Progressive neurologic deterioration1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0002361Psychomotor deterioration1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0002333Motor deterioration1C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0002344Progressive neurologic deterioration1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0002361Psychomotor deterioration1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0000726Dementia1CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0002333Motor deterioration1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0007086Social and occupational deterioration1CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0002344Progressive neurologic deterioration1CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0002361Psychomotor deterioration1CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0000726Dementia1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0002333Motor deterioration1CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0007086Social and occupational deterioration1CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0007086Social and occupational deterioration1CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0000726Dementia1CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0002361Psychomotor deterioration1CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0002344Progressive neurologic deterioration1CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0002333Motor deterioration1CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0002344Progressive neurologic deterioration1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0002361Psychomotor deterioration1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0002333Motor deterioration1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0007086Social and occupational deterioration1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0000726Dementia1CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0000726Dementia1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0007086Social and occupational deterioration1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0002344Progressive neurologic deterioration1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0002361Psychomotor deterioration1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0002333Motor deterioration1COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0002344Progressive neurologic deterioration1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0002361Psychomotor deterioration1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0002333Motor deterioration1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0007086Social and occupational deterioration1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0000726Dementia1CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0002344Progressive neurologic deterioration1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0002361Psychomotor deterioration1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0002333Motor deterioration1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0000726Dementia1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0007086Social and occupational deterioration1CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0002344Progressive neurologic deterioration1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0002361Psychomotor deterioration1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0002333Motor deterioration1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0000726Dementia1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0007086Social and occupational deterioration1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0007086Social and occupational deterioration1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0000726Dementia1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0002361Psychomotor deterioration1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0002344Progressive neurologic deterioration1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0002333Motor deterioration1CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0000726Dementia1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0007086Social and occupational deterioration1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0002344Progressive neurologic deterioration1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0002361Psychomotor deterioration1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0002333Motor deterioration1CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0007086Social and occupational deterioration1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0000726Dementia1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0002361Psychomotor deterioration1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0002344Progressive neurologic deterioration1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0002333Motor deterioration1DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0002344Progressive neurologic deterioration1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0002361Psychomotor deterioration1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0002333Motor deterioration1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0007086Social and occupational deterioration1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0000726Dementia1DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0007086Social and occupational deterioration1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0000726Dementia1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0002361Psychomotor deterioration1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0002344Progressive neurologic deterioration1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0002333Motor deterioration1ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0002344Progressive neurologic deterioration1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0002361Psychomotor deterioration1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0002333Motor deterioration1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0000726Dementia1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0007086Social and occupational deterioration1ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0007086Social and occupational deterioration1FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0000726Dementia1FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0002344Progressive neurologic deterioration1FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0002361Psychomotor deterioration1FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0002333Motor deterioration1FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0007086Social and occupational deterioration1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0000726Dementia1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0002344Progressive neurologic deterioration1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0002361Psychomotor deterioration1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0002333Motor deterioration1FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0007086Social and occupational deterioration1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0000726Dementia1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0002361Psychomotor deterioration1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0002344Progressive neurologic deterioration1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0002333Motor deterioration1GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0002344Progressive neurologic deterioration1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0002361Psychomotor deterioration1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0002333Motor deterioration1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0000726Dementia1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0007086Social and occupational deterioration1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0002344Progressive neurologic deterioration1HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0002361Psychomotor deterioration1HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0002333Motor deterioration1HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0000726Dementia1HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0007086Social and occupational deterioration1HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0002344Progressive neurologic deterioration1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0002361Psychomotor deterioration1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0002333Motor deterioration1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0007086Social and occupational deterioration1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0000726Dementia1MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0007086Social and occupational deterioration1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0000726Dementia1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0002361Psychomotor deterioration1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0002344Progressive neurologic deterioration1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0002333Motor deterioration1MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0002344Progressive neurologic deterioration1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0002361Psychomotor deterioration1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0002333Motor deterioration1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0000726Dementia1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0007086Social and occupational deterioration1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0007086Social and occupational deterioration1NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0000726Dementia1NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0002361Psychomotor deterioration1NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0002344Progressive neurologic deterioration1NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0002333Motor deterioration1NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0007086Social and occupational deterioration1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0000726Dementia1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0002344Progressive neurologic deterioration1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0002361Psychomotor deterioration1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0002333Motor deterioration1NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0002344Progressive neurologic deterioration1PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0002361Psychomotor deterioration1PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0002333Motor deterioration1PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0007086Social and occupational deterioration1PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0000726Dementia1PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0007086Social and occupational deterioration1PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0000726Dementia1PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0002344Progressive neurologic deterioration1PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0002361Psychomotor deterioration1PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0002333Motor deterioration1PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0007086Social and occupational deterioration1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0000726Dementia1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0002344Progressive neurologic deterioration1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0002361Psychomotor deterioration1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0002333Motor deterioration1PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0002344Progressive neurologic deterioration1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0002361Psychomotor deterioration1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0002333Motor deterioration1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0007086Social and occupational deterioration1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0000726Dementia1PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0002344Progressive neurologic deterioration1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0002361Psychomotor deterioration1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0002333Motor deterioration1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0000726Dementia1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0007086Social and occupational deterioration1PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0002344Progressive neurologic deterioration1PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0002361Psychomotor deterioration1PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0002333Motor deterioration1PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0007086Social and occupational deterioration1PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0000726Dementia1PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0007086Social and occupational deterioration1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0000726Dementia1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0002361Psychomotor deterioration1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0002344Progressive neurologic deterioration1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0002333Motor deterioration1PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0002344Progressive neurologic deterioration1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0002361Psychomotor deterioration1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0002333Motor deterioration1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0007086Social and occupational deterioration1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0000726Dementia1PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0000726Dementia1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0007086Social and occupational deterioration1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0002344Progressive neurologic deterioration1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0002361Psychomotor deterioration1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0002333Motor deterioration1SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0002344Progressive neurologic deterioration1SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0002361Psychomotor deterioration1SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0002333Motor deterioration1SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0000726Dementia1SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0007086Social and occupational deterioration1SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0002344Progressive neurologic deterioration1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0002361Psychomotor deterioration1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0002333Motor deterioration1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0000726Dementia1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0007086Social and occupational deterioration1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0007086Social and occupational deterioration1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0000726Dementia1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0002344Progressive neurologic deterioration1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0002361Psychomotor deterioration1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0002333Motor deterioration1SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0002344Progressive neurologic deterioration1SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0002361Psychomotor deterioration1SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0002333Motor deterioration1SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0007086Social and occupational deterioration1SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0000726Dementia1SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0002344Progressive neurologic deterioration1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0002361Psychomotor deterioration1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0002333Motor deterioration1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0007086Social and occupational deterioration1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0000726Dementia1SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0007086Social and occupational deterioration1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0000726Dementia1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0002361Psychomotor deterioration1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0002344Progressive neurologic deterioration1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0002333Motor deterioration1SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0002344Progressive neurologic deterioration1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0002361Psychomotor deterioration1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0002333Motor deterioration1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0007086Social and occupational deterioration1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0000726Dementia1SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0002344Progressive neurologic deterioration1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0002361Psychomotor deterioration1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0002333Motor deterioration1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0007086Social and occupational deterioration1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0000726Dementia1SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0007086Social and occupational deterioration1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0000726Dementia1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0002361Psychomotor deterioration1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0002344Progressive neurologic deterioration1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0002333Motor deterioration1SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0000726Dementia1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0007086Social and occupational deterioration1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0002344Progressive neurologic deterioration1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0002361Psychomotor deterioration1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0002333Motor deterioration1TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0002344Progressive neurologic deterioration1TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0002361Psychomotor deterioration1TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0002333Motor deterioration1TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0007086Social and occupational deterioration1TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0000726Dementia1TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0007086Social and occupational deterioration1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0000726Dementia1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0002344Progressive neurologic deterioration1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0002361Psychomotor deterioration1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0002333Motor deterioration1TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0002344Progressive neurologic deterioration1TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0002361Psychomotor deterioration1TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0002333Motor deterioration1TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0007086Social and occupational deterioration1TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0000726Dementia1TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0000726Dementia1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0007086Social and occupational deterioration1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0002344Progressive neurologic deterioration1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0002361Psychomotor deterioration1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0002333Motor deterioration1UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0002344Progressive neurologic deterioration1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0002361Psychomotor deterioration1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0002333Motor deterioration1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0007086Social and occupational deterioration1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0000726Dementia1XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0002145Frontotemporal dementia2ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0002439Frontolimbic dementia2ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0007307Rapid neurologic deterioration2ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0000727Frontal lobe dementia2ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0007123Subcortical dementia2ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0007272Progressive psychomotor deterioration2ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0007064Progressive language deterioration2ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0000727Frontal lobe dementia2ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0007123Subcortical dementia2ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0007272Progressive psychomotor deterioration2ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0007064Progressive language deterioration2ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0002145Frontotemporal dementia2ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0002439Frontolimbic dementia2ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0007307Rapid neurologic deterioration2ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0002145Frontotemporal dementia2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0007307Rapid neurologic deterioration2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0002439Frontolimbic dementia2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0007272Progressive psychomotor deterioration2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0000727Frontal lobe dementia2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0007123Subcortical dementia2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0007064Progressive language deterioration2AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0000727Frontal lobe dementia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0007123Subcortical dementia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0007272Progressive psychomotor deterioration2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0007064Progressive language deterioration2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0002145Frontotemporal dementia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0002439Frontolimbic dementia2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0007307Rapid neurologic deterioration2ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0002145Frontotemporal dementia2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0002439Frontolimbic dementia2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0007307Rapid neurologic deterioration2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0000727Frontal lobe dementia2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0007123Subcortical dementia2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0007272Progressive psychomotor deterioration2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0007064Progressive language deterioration2ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0000727Frontal lobe dementia2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0007123Subcortical dementia2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0007272Progressive psychomotor deterioration2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0007064Progressive language deterioration2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0002145Frontotemporal dementia2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0002439Frontolimbic dementia2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0007307Rapid neurologic deterioration2ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0000727Frontal lobe dementia2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0007123Subcortical dementia2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0007272Progressive psychomotor deterioration2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0007064Progressive language deterioration2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0002145Frontotemporal dementia2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0002439Frontolimbic dementia2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0007307Rapid neurologic deterioration2ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0002145Frontotemporal dementia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0007307Rapid neurologic deterioration2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0002439Frontolimbic dementia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0007123Subcortical dementia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0007272Progressive psychomotor deterioration2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0000727Frontal lobe dementia2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0007064Progressive language deterioration2BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0000727Frontal lobe dementia2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0007123Subcortical dementia2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0007272Progressive psychomotor deterioration2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0007064Progressive language deterioration2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0002145Frontotemporal dementia2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0002439Frontolimbic dementia2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0007307Rapid neurologic deterioration2C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0000727Frontal lobe dementia2CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0007123Subcortical dementia2CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0002145Frontotemporal dementia2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0007272Progressive psychomotor deterioration2CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0002439Frontolimbic dementia2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0007064Progressive language deterioration2CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0007307Rapid neurologic deterioration2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0002145Frontotemporal dementia2CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0000727Frontal lobe dementia2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0007123Subcortical dementia2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0007272Progressive psychomotor deterioration2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0002439Frontolimbic dementia2CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0007307Rapid neurologic deterioration2CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0007064Progressive language deterioration2CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0007272Progressive psychomotor deterioration2CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0000727Frontal lobe dementia2CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0007123Subcortical dementia2CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0007064Progressive language deterioration2CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0002145Frontotemporal dementia2CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0007307Rapid neurologic deterioration2CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0002439Frontolimbic dementia2CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0002145Frontotemporal dementia2CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0007307Rapid neurologic deterioration2CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0002439Frontolimbic dementia2CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0007272Progressive psychomotor deterioration2CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0000727Frontal lobe dementia2CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0007123Subcortical dementia2CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0007064Progressive language deterioration2CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0000727Frontal lobe dementia2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0007123Subcortical dementia2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0007272Progressive psychomotor deterioration2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0007064Progressive language deterioration2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0002145Frontotemporal dementia2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0002439Frontolimbic dementia2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0007307Rapid neurologic deterioration2COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0002145Frontotemporal dementia2CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0002439Frontolimbic dementia2CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0007307Rapid neurologic deterioration2CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0000727Frontal lobe dementia2CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0007123Subcortical dementia2CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0007272Progressive psychomotor deterioration2CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0007064Progressive language deterioration2CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0002145Frontotemporal dementia2CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0002439Frontolimbic dementia2CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0007307Rapid neurologic deterioration2CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0000727Frontal lobe dementia2CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0007123Subcortical dementia2CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0007272Progressive psychomotor deterioration2CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0007064Progressive language deterioration2CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0002145Frontotemporal dementia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0002439Frontolimbic dementia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0007307Rapid neurologic deterioration2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0000727Frontal lobe dementia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0007123Subcortical dementia2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0007272Progressive psychomotor deterioration2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0007064Progressive language deterioration2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0000727Frontal lobe dementia2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0007123Subcortical dementia2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0007272Progressive psychomotor deterioration2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0007064Progressive language deterioration2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0002145Frontotemporal dementia2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0002439Frontolimbic dementia2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0007307Rapid neurologic deterioration2CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0000727Frontal lobe dementia2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0007123Subcortical dementia2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0007272Progressive psychomotor deterioration2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0007064Progressive language deterioration2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0002145Frontotemporal dementia2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0002439Frontolimbic dementia2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0007307Rapid neurologic deterioration2CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0007272Progressive psychomotor deterioration2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0000727Frontal lobe dementia2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0007123Subcortical dementia2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0007064Progressive language deterioration2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0002145Frontotemporal dementia2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0007307Rapid neurologic deterioration2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0002439Frontolimbic dementia2DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0002145Frontotemporal dementia2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0007307Rapid neurologic deterioration2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0002439Frontolimbic dementia2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0007123Subcortical dementia2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0007272Progressive psychomotor deterioration2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0000727Frontal lobe dementia2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0007064Progressive language deterioration2DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0000727Frontal lobe dementia2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0007123Subcortical dementia2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0007272Progressive psychomotor deterioration2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0007064Progressive language deterioration2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0002145Frontotemporal dementia2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0002439Frontolimbic dementia2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0007307Rapid neurologic deterioration2ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0002145Frontotemporal dementia2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0002439Frontolimbic dementia2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0007307Rapid neurologic deterioration2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0000727Frontal lobe dementia2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0007123Subcortical dementia2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0007272Progressive psychomotor deterioration2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0007064Progressive language deterioration2ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0007272Progressive psychomotor deterioration2FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0000727Frontal lobe dementia2FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0007123Subcortical dementia2FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0007064Progressive language deterioration2FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0002145Frontotemporal dementia2FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0007307Rapid neurologic deterioration2FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0002439Frontolimbic dementia2FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0000727Frontal lobe dementia2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0007123Subcortical dementia2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0007272Progressive psychomotor deterioration2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0007064Progressive language deterioration2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0002145Frontotemporal dementia2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0002439Frontolimbic dementia2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0007307Rapid neurologic deterioration2FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0007272Progressive psychomotor deterioration2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0000727Frontal lobe dementia2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0007123Subcortical dementia2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0007064Progressive language deterioration2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0002145Frontotemporal dementia2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0007307Rapid neurologic deterioration2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0002439Frontolimbic dementia2GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0002145Frontotemporal dementia2GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0002439Frontolimbic dementia2GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0007307Rapid neurologic deterioration2GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0000727Frontal lobe dementia2GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0007123Subcortical dementia2GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0007272Progressive psychomotor deterioration2GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0007064Progressive language deterioration2GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0002145Frontotemporal dementia2HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0002439Frontolimbic dementia2HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0007307Rapid neurologic deterioration2HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0000727Frontal lobe dementia2HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0007123Subcortical dementia2HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0007272Progressive psychomotor deterioration2HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0007064Progressive language deterioration2HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0002145Frontotemporal dementia2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0002439Frontolimbic dementia2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0007307Rapid neurologic deterioration2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0000727Frontal lobe dementia2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0007123Subcortical dementia2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0007272Progressive psychomotor deterioration2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0007064Progressive language deterioration2MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0000727Frontal lobe dementia2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0007123Subcortical dementia2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0007272Progressive psychomotor deterioration2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0007064Progressive language deterioration2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0002145Frontotemporal dementia2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0002439Frontolimbic dementia2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0007307Rapid neurologic deterioration2MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0002145Frontotemporal dementia2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0002439Frontolimbic dementia2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0007307Rapid neurologic deterioration2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0000727Frontal lobe dementia2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0007123Subcortical dementia2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0007272Progressive psychomotor deterioration2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0007064Progressive language deterioration2MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0007272Progressive psychomotor deterioration2NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0000727Frontal lobe dementia2NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0007123Subcortical dementia2NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0007064Progressive language deterioration2NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0002145Frontotemporal dementia2NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0007307Rapid neurologic deterioration2NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0002439Frontolimbic dementia2NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0007123Subcortical dementia2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0007272Progressive psychomotor deterioration2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0000727Frontal lobe dementia2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0007064Progressive language deterioration2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0002145Frontotemporal dementia2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0002439Frontolimbic dementia2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0007307Rapid neurologic deterioration2NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0002145Frontotemporal dementia2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0007307Rapid neurologic deterioration2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0002439Frontolimbic dementia2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0007123Subcortical dementia2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0007272Progressive psychomotor deterioration2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0000727Frontal lobe dementia2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0007064Progressive language deterioration2PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0007123Subcortical dementia2PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0007272Progressive psychomotor deterioration2PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0000727Frontal lobe dementia2PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0007064Progressive language deterioration2PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0002145Frontotemporal dementia2PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0002439Frontolimbic dementia2PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0007307Rapid neurologic deterioration2PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0007123Subcortical dementia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0007272Progressive psychomotor deterioration2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0000727Frontal lobe dementia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0007064Progressive language deterioration2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0002145Frontotemporal dementia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0002439Frontolimbic dementia2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0007307Rapid neurologic deterioration2PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0002145Frontotemporal dementia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0007307Rapid neurologic deterioration2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0002439Frontolimbic dementia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0007272Progressive psychomotor deterioration2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0000727Frontal lobe dementia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0007123Subcortical dementia2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0007064Progressive language deterioration2PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0002145Frontotemporal dementia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0002439Frontolimbic dementia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0007307Rapid neurologic deterioration2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0000727Frontal lobe dementia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0007123Subcortical dementia2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0007272Progressive psychomotor deterioration2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0007064Progressive language deterioration2PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0002145Frontotemporal dementia2PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0007307Rapid neurologic deterioration2PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0002439Frontolimbic dementia2PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0007272Progressive psychomotor deterioration2PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0000727Frontal lobe dementia2PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0007123Subcortical dementia2PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0007064Progressive language deterioration2PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0000727Frontal lobe dementia2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0007123Subcortical dementia2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0007272Progressive psychomotor deterioration2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0007064Progressive language deterioration2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0002145Frontotemporal dementia2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0002439Frontolimbic dementia2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0007307Rapid neurologic deterioration2PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0002145Frontotemporal dementia2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0007307Rapid neurologic deterioration2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0002439Frontolimbic dementia2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0007272Progressive psychomotor deterioration2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0000727Frontal lobe dementia2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0007123Subcortical dementia2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0007064Progressive language deterioration2PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0000727Frontal lobe dementia2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0007123Subcortical dementia2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0007272Progressive psychomotor deterioration2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0007064Progressive language deterioration2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0002145Frontotemporal dementia2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0002439Frontolimbic dementia2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0007307Rapid neurologic deterioration2SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0002145Frontotemporal dementia2SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0002439Frontolimbic dementia2SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0007307Rapid neurologic deterioration2SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0000727Frontal lobe dementia2SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0007123Subcortical dementia2SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0007272Progressive psychomotor deterioration2SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0007064Progressive language deterioration2SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0002145Frontotemporal dementia2SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0002439Frontolimbic dementia2SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0007307Rapid neurologic deterioration2SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0000727Frontal lobe dementia2SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0007123Subcortical dementia2SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0007272Progressive psychomotor deterioration2SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0007064Progressive language deterioration2SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0000727Frontal lobe dementia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0007123Subcortical dementia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0007272Progressive psychomotor deterioration2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0007064Progressive language deterioration2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0002145Frontotemporal dementia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0002439Frontolimbic dementia2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0007307Rapid neurologic deterioration2SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0002145Frontotemporal dementia2SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0007307Rapid neurologic deterioration2SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0002439Frontolimbic dementia2SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0007123Subcortical dementia2SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0007272Progressive psychomotor deterioration2SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0000727Frontal lobe dementia2SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0007064Progressive language deterioration2SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0002145Frontotemporal dementia2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0007307Rapid neurologic deterioration2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0002439Frontolimbic dementia2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0007272Progressive psychomotor deterioration2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0000727Frontal lobe dementia2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0007123Subcortical dementia2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0007064Progressive language deterioration2SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0000727Frontal lobe dementia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0007123Subcortical dementia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0007272Progressive psychomotor deterioration2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0007064Progressive language deterioration2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0002145Frontotemporal dementia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0002439Frontolimbic dementia2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0007307Rapid neurologic deterioration2SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0002145Frontotemporal dementia2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0007307Rapid neurologic deterioration2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0002439Frontolimbic dementia2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0007123Subcortical dementia2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0007272Progressive psychomotor deterioration2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0000727Frontal lobe dementia2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0007064Progressive language deterioration2SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0002145Frontotemporal dementia2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0007307Rapid neurologic deterioration2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0002439Frontolimbic dementia2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0007272Progressive psychomotor deterioration2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0000727Frontal lobe dementia2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0007123Subcortical dementia2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0007064Progressive language deterioration2SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0007272Progressive psychomotor deterioration2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0000727Frontal lobe dementia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0007123Subcortical dementia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0007064Progressive language deterioration2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0002145Frontotemporal dementia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0007307Rapid neurologic deterioration2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0002439Frontolimbic dementia2SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0007307Rapid neurologic deterioration2TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0000727Frontal lobe dementia2TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0007123Subcortical dementia2TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0007272Progressive psychomotor deterioration2TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0007064Progressive language deterioration2TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0002145Frontotemporal dementia2TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0002439Frontolimbic dementia2TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0002145Frontotemporal dementia2TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0007307Rapid neurologic deterioration2TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0002439Frontolimbic dementia2TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0007123Subcortical dementia2TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0007272Progressive psychomotor deterioration2TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0000727Frontal lobe dementia2TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0007064Progressive language deterioration2TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0007123Subcortical dementia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0007272Progressive psychomotor deterioration2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0000727Frontal lobe dementia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0007064Progressive language deterioration2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0002145Frontotemporal dementia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0002439Frontolimbic dementia2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0007307Rapid neurologic deterioration2TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0002145Frontotemporal dementia2TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0002439Frontolimbic dementia2TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0007307Rapid neurologic deterioration2TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0000727Frontal lobe dementia2TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0007123Subcortical dementia2TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0007272Progressive psychomotor deterioration2TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0007064Progressive language deterioration2TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0000727Frontal lobe dementia2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0007123Subcortical dementia2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0007272Progressive psychomotor deterioration2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0007064Progressive language deterioration2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0002145Frontotemporal dementia2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0002439Frontolimbic dementia2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0007307Rapid neurologic deterioration2UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0002145Frontotemporal dementia2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0007307Rapid neurologic deterioration2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0002439Frontolimbic dementia2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0007272Progressive psychomotor deterioration2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0000727Frontal lobe dementia2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0007123Subcortical dementia2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0007064Progressive language deterioration2XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
HP:0001268HP:0030219Semantic dementia3ACTB CL E G H6079107ORPHA1512132102630
HP:0001268HP:0030219Semantic dementia3ADA2 CL E G H51816182410Idiopathic livedo reticularis with systemic involvement182410C0282492OMIM15331839607575
HP:0001268HP:0030219Semantic dementia3AP5Z1 CL E G H9907613647Spastic paraplegia 48, autosomal recessive613647C3150901OMIM1102122197613653
HP:0001268HP:0030219Semantic dementia3ARSA CL E G H410250100Metachromatic leukodystrophy250100C0023522OMIM11140713607574
HP:0001268HP:0030219Semantic dementia3ATP1A2 CL E G H477104290Alternating hemiplegia of childhood 1104290C3549447OMIM11117800182340
HP:0001268HP:0030219Semantic dementia3ATP1A3 CL E G H478614820Alternating hemiplegia of childhood 2614820C3553788OMIM1993801182350
HP:0001268HP:0030219Semantic dementia3ATXN7 CL E G H631494147ORPHA19810560607640
HP:0001268HP:0030219Semantic dementia3BSCL2 CL E G H26580615924Encephalopathy, progressive, with or without lipodystrophy615924C4014700OMIM151015832606158
HP:0001268HP:0030219Semantic dementia3C19orf12 CL E G H83636289560ORPHA130725443614297
HP:0001268HP:0030219Semantic dementia3CHD2 CL E G H11061942ORPHA118381917602119
HP:0001268HP:0030219Semantic dementia3CHD2 CL E G H11062382ORPHA118381917602119
HP:0001268HP:0030219Semantic dementia3CLN8 CL E G H20551947ORPHA16402079607837
HP:0001268HP:0030219Semantic dementia3CLN8 CL E G H2055610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant610003C1864923OMIM16402079607837
HP:0001268HP:0030219Semantic dementia3COASY CL E G H80347615643Neurodegeneration with brain iron accumulation 6615643C3810230OMIM128129932609855
HP:0001268HP:0030219Semantic dementia3CPLX1 CL E G H10815352582ORPHA12062309605032
HP:0001268HP:0030219Semantic dementia3CSTB CL E G H1476254800Unverricht-Lundborg syndrome254800C0751785OMIM12612482601145
HP:0001268HP:0030219Semantic dementia3CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1129226169613129
HP:0001268HP:0030219Semantic dementia3CTSD CL E G H1509610127Ceroid lipofuscinosis neuronal 10610127C1864669OMIM16692529116840
HP:0001268HP:0030219Semantic dementia3CUX2 CL E G H233162382ORPHA122719347610648
HP:0001268HP:0030219Semantic dementia3DCAF17 CL E G H800673464ORPHA136625784612515
HP:0001268HP:0030219Semantic dementia3DNM1 CL E G H17592382ORPHA17652972602377
HP:0001268HP:0030219Semantic dementia3ERCC2 CL E G H2068278730Xeroderma pigmentosum, group D278730C0268138OMIM115723434126340
HP:0001268HP:0030219Semantic dementia3ERCC6 CL E G H2074278800DE SANCTIS-CACCHIONE SYNDROME278800C0265201OMIM116453438609413
HP:0001268HP:0030219Semantic dementia3FA2H CL E G H79152171629ORPHA138121197611026
HP:0001268HP:0030219Semantic dementia3FA2H CL E G H79152612319Spastic paraplegia 35612319C3668943OMIM138121197611026
HP:0001268HP:0030219Semantic dementia3GABRB3 CL E G H25622382ORPHA18384083137192
HP:0001268HP:0030219Semantic dementia3GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM16444392139320
HP:0001268HP:0030219Semantic dementia3HTRA1 CL E G H5654616779Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779C4225211OMIM12859476602194
HP:0001268HP:0030219Semantic dementia3MAPK10 CL E G H56022382ORPHA1706872602897
HP:0001268HP:0030219Semantic dementia3MFSD8 CL E G H256471610951Ceroid lipofuscinosis neuronal 7610951C1838571OMIM186928486611124
HP:0001268HP:0030219Semantic dementia3MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001268HP:0030219Semantic dementia3NBN CL E G H4683647ORPHA132507652602667
HP:0001268HP:0030219Semantic dementia3NRAS CL E G H4893249400Neurocutaneous melanosis249400C0544862OMIM12817989164790
HP:0001268HP:0030219Semantic dementia3PDE10A CL E G H10846616922Striatal degeneration, autosomal dominant 2616922C4310791OMIM12228772610652
HP:0001268HP:0030219Semantic dementia3PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM12038773604961
HP:0001268HP:0030219Semantic dementia3PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM11518800190040
HP:0001268HP:0030219Semantic dementia3PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM15318804173410
HP:0001268HP:0030219Semantic dementia3PLA2G6 CL E G H8398610217Neurodegeneration with brain iron accumulation 2b610217C1857747OMIM17759039603604
HP:0001268HP:0030219Semantic dementia3PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM111319388188830
HP:0001268HP:0030219Semantic dementia3PRKCG CL E G H5582605361Spinocerebellar ataxia 14605361C1854369OMIM13239402176980
HP:0001268HP:0030219Semantic dementia3PSAP CL E G H5660249900Sphingolipid activator protein 1 deficiency249900C0268262OMIM17729498176801
HP:0001268HP:0030219Semantic dementia3SCN1A CL E G H63232382ORPHA1403010585182389
HP:0001268HP:0030219Semantic dementia3SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM1403010585182389
HP:0001268HP:0030219Semantic dementia3SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0001268HP:0030219Semantic dementia3SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM133710947158378
HP:0001268HP:0030219Semantic dementia3SLC6A1 CL E G H65291942ORPHA180911042137165
HP:0001268HP:0030219Semantic dementia3SNCA CL E G H6622168601Parkinson disease 1168601C1868595OMIM119311138163890
HP:0001268HP:0030219Semantic dementia3SNORD118 CL E G H727676614561Leukoencephalopathy, brain calcifications, and cysts614561C3281200OMIM118932952616663
HP:0001268HP:0030219Semantic dementia3SPG11 CL E G H802082822Hyperinsulinism, focalORPHA1262511226610844
HP:0001268HP:0030219Semantic dementia3SPG11 CL E G H80208604360Spastic paraplegia 11, autosomal recessive604360C1858479OMIM1262511226610844
HP:0001268HP:0030219Semantic dementia3SQSTM1 CL E G H8878617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset617145C4310693OMIM167711280601530
HP:0001268HP:0030219Semantic dementia3TBC1D24 CL E G H57465352582ORPHA189329203613577
HP:0001268HP:0030219Semantic dementia3TBP CL E G H690898759ORPHA113111588600075
HP:0001268HP:0030219Semantic dementia3TIMM8A CL E G H1678304700Mohr-Tranebjaerg syndrome304700C0796074OMIM122711817300356
HP:0001268HP:0030219Semantic dementia3TREX1 CL E G H11277247691ORPHA141812269606609
HP:0001268HP:0030219Semantic dementia3UBTF CL E G H7343617672NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY617672C4540086OMIM18412511600673
HP:0001268HP:0030219Semantic dementia3XPA CL E G H7507278700Xeroderma pigmentosum, type 1278700C0268135OMIM132112814611153
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001268HP:0001268Mental deterioration0AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0001268Mental deterioration0AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0001268Mental deterioration0APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0001268Mental deterioration0ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0001268Mental deterioration0ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0001268Mental deterioration0ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0001268Mental deterioration0CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0001268Mental deterioration0CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0001268Mental deterioration0CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0001268Mental deterioration0COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0001268Mental deterioration0CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0001268Mental deterioration0DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0001268Mental deterioration0DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0001268Mental deterioration0DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0001268Mental deterioration0EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0001268Mental deterioration0FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0001268Mental deterioration0GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0001268Mental deterioration0GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0001268Mental deterioration0GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0001268Mental deterioration0HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0001268Mental deterioration0KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0001268Mental deterioration0KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0001268Mental deterioration0KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0001268Mental deterioration0MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0001268Mental deterioration0NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0001268Mental deterioration0NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0001268Mental deterioration0NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0001268Mental deterioration0PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0001268Mental deterioration0PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0001268Mental deterioration0SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0001268Mental deterioration0SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0001268Mental deterioration0SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0001268Mental deterioration0SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0001268Mental deterioration0STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0001268Mental deterioration0SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0001268Mental deterioration0SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0001268Mental deterioration0SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0001268Mental deterioration0SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0001268Mental deterioration0TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0001268Mental deterioration0TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0001268Mental deterioration0UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0001268Mental deterioration0VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0001268Mental deterioration0WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0001268Mental deterioration0YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0007086Social and occupational deterioration1AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0000726Dementia1AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0002344Progressive neurologic deterioration1AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0002361Psychomotor deterioration1AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0002333Motor deterioration1AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0002333Motor deterioration1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0007086Social and occupational deterioration1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0000726Dementia1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0002344Progressive neurologic deterioration1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0002361Psychomotor deterioration1AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0002344Progressive neurologic deterioration1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0002361Psychomotor deterioration1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0002333Motor deterioration1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0000726Dementia1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0007086Social and occupational deterioration1APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0007086Social and occupational deterioration1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0000726Dementia1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0002344Progressive neurologic deterioration1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0002361Psychomotor deterioration1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0002333Motor deterioration1ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0002333Motor deterioration1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0000726Dementia1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0007086Social and occupational deterioration1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0002344Progressive neurologic deterioration1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0002361Psychomotor deterioration1ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0007086Social and occupational deterioration1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0000726Dementia1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0002344Progressive neurologic deterioration1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0002361Psychomotor deterioration1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0002333Motor deterioration1ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0007086Social and occupational deterioration1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0000726Dementia1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0002344Progressive neurologic deterioration1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0002361Psychomotor deterioration1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0002333Motor deterioration1CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0002333Motor deterioration1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0007086Social and occupational deterioration1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0000726Dementia1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0002344Progressive neurologic deterioration1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0002361Psychomotor deterioration1CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0007086Social and occupational deterioration1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0000726Dementia1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0002344Progressive neurologic deterioration1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0002361Psychomotor deterioration1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0002333Motor deterioration1CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0007086Social and occupational deterioration1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0000726Dementia1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0002344Progressive neurologic deterioration1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0002361Psychomotor deterioration1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0002333Motor deterioration1COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0002333Motor deterioration1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0000726Dementia1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0007086Social and occupational deterioration1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0002344Progressive neurologic deterioration1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0002361Psychomotor deterioration1CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0007086Social and occupational deterioration1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0000726Dementia1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0002344Progressive neurologic deterioration1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0002361Psychomotor deterioration1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0002333Motor deterioration1DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0002333Motor deterioration1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0007086Social and occupational deterioration1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0000726Dementia1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0002344Progressive neurologic deterioration1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0002361Psychomotor deterioration1DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0002344Progressive neurologic deterioration1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0002361Psychomotor deterioration1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0002333Motor deterioration1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0007086Social and occupational deterioration1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0000726Dementia1DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0007086Social and occupational deterioration1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0000726Dementia1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0002361Psychomotor deterioration1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0002344Progressive neurologic deterioration1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0002333Motor deterioration1EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0002333Motor deterioration1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0000726Dementia1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0007086Social and occupational deterioration1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0002344Progressive neurologic deterioration1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0002361Psychomotor deterioration1FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0007086Social and occupational deterioration1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0000726Dementia1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0002344Progressive neurologic deterioration1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0002361Psychomotor deterioration1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0002333Motor deterioration1GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0002333Motor deterioration1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0007086Social and occupational deterioration1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0000726Dementia1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0002344Progressive neurologic deterioration1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0002361Psychomotor deterioration1GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0002344Progressive neurologic deterioration1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0002361Psychomotor deterioration1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0002333Motor deterioration1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0000726Dementia1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0007086Social and occupational deterioration1GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0007086Social and occupational deterioration1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0000726Dementia1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0002361Psychomotor deterioration1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0002344Progressive neurologic deterioration1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0002333Motor deterioration1HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0002333Motor deterioration1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0000726Dementia1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0007086Social and occupational deterioration1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0002344Progressive neurologic deterioration1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0002361Psychomotor deterioration1KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0007086Social and occupational deterioration1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0000726Dementia1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0002344Progressive neurologic deterioration1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0002361Psychomotor deterioration1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0002333Motor deterioration1KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0007086Social and occupational deterioration1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0000726Dementia1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0002361Psychomotor deterioration1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0002344Progressive neurologic deterioration1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0002333Motor deterioration1KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0007086Social and occupational deterioration1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0000726Dementia1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0002344Progressive neurologic deterioration1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0002361Psychomotor deterioration1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0002333Motor deterioration1MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0002333Motor deterioration1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0007086Social and occupational deterioration1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0000726Dementia1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0002344Progressive neurologic deterioration1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0002361Psychomotor deterioration1NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0007086Social and occupational deterioration1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0000726Dementia1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0002361Psychomotor deterioration1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0002344Progressive neurologic deterioration1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0002333Motor deterioration1NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0002333Motor deterioration1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0000726Dementia1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0007086Social and occupational deterioration1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0002344Progressive neurologic deterioration1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0002361Psychomotor deterioration1NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0007086Social and occupational deterioration1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0000726Dementia1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0002344Progressive neurologic deterioration1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0002361Psychomotor deterioration1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0002333Motor deterioration1PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0007086Social and occupational deterioration1PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0000726Dementia1PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0002344Progressive neurologic deterioration1PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0002361Psychomotor deterioration1PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0002333Motor deterioration1PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0002333Motor deterioration1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0007086Social and occupational deterioration1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0000726Dementia1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0002344Progressive neurologic deterioration1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0002361Psychomotor deterioration1SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0007086Social and occupational deterioration1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0000726Dementia1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0002361Psychomotor deterioration1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0002344Progressive neurologic deterioration1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0002333Motor deterioration1SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0002333Motor deterioration1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0000726Dementia1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0007086Social and occupational deterioration1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0002344Progressive neurologic deterioration1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0002361Psychomotor deterioration1SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0007086Social and occupational deterioration1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0000726Dementia1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0002344Progressive neurologic deterioration1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0002361Psychomotor deterioration1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0002333Motor deterioration1SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0002333Motor deterioration1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0007086Social and occupational deterioration1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0000726Dementia1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0002344Progressive neurologic deterioration1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0002361Psychomotor deterioration1STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0007086Social and occupational deterioration1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0000726Dementia1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0002361Psychomotor deterioration1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0002344Progressive neurologic deterioration1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0002333Motor deterioration1SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0002333Motor deterioration1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0000726Dementia1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0007086Social and occupational deterioration1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0002344Progressive neurologic deterioration1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0002361Psychomotor deterioration1SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0002344Progressive neurologic deterioration1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0002361Psychomotor deterioration1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0002333Motor deterioration1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0000726Dementia1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0007086Social and occupational deterioration1SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0007086Social and occupational deterioration1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0000726Dementia1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0002344Progressive neurologic deterioration1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0002361Psychomotor deterioration1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0002333Motor deterioration1SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0002333Motor deterioration1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0007086Social and occupational deterioration1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0000726Dementia1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0002344Progressive neurologic deterioration1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0002361Psychomotor deterioration1TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0002344Progressive neurologic deterioration1TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0002361Psychomotor deterioration1TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0002333Motor deterioration1TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0007086Social and occupational deterioration1TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0000726Dementia1TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0007086Social and occupational deterioration1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0000726Dementia1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0002361Psychomotor deterioration1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0002344Progressive neurologic deterioration1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0002333Motor deterioration1UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0000726Dementia1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0007086Social and occupational deterioration1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0002344Progressive neurologic deterioration1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0002361Psychomotor deterioration1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0002333Motor deterioration1VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0002333Motor deterioration1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0000726Dementia1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0007086Social and occupational deterioration1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0002344Progressive neurologic deterioration1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0002361Psychomotor deterioration1WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0007086Social and occupational deterioration1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0000726Dementia1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0002344Progressive neurologic deterioration1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0002361Psychomotor deterioration1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0002333Motor deterioration1YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0007064Progressive language deterioration2AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0002145Frontotemporal dementia2AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0007307Rapid neurologic deterioration2AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0002439Frontolimbic dementia2AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0007123Subcortical dementia2AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0007272Progressive psychomotor deterioration2AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0000727Frontal lobe dementia2AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0007307Rapid neurologic deterioration2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0002439Frontolimbic dementia2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0007272Progressive psychomotor deterioration2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0000727Frontal lobe dementia2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0007123Subcortical dementia2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0007064Progressive language deterioration2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0002145Frontotemporal dementia2AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0002145Frontotemporal dementia2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0002439Frontolimbic dementia2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0007307Rapid neurologic deterioration2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0000727Frontal lobe dementia2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0007123Subcortical dementia2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0007272Progressive psychomotor deterioration2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0007064Progressive language deterioration2APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0007064Progressive language deterioration2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0002145Frontotemporal dementia2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0002439Frontolimbic dementia2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0007307Rapid neurologic deterioration2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0000727Frontal lobe dementia2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0007123Subcortical dementia2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0007272Progressive psychomotor deterioration2ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0002439Frontolimbic dementia2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0007307Rapid neurologic deterioration2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0000727Frontal lobe dementia2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0007123Subcortical dementia2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0007272Progressive psychomotor deterioration2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0007064Progressive language deterioration2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0002145Frontotemporal dementia2ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0007123Subcortical dementia2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0007272Progressive psychomotor deterioration2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0000727Frontal lobe dementia2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0007064Progressive language deterioration2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0002145Frontotemporal dementia2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0002439Frontolimbic dementia2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0007307Rapid neurologic deterioration2ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0007064Progressive language deterioration2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0002145Frontotemporal dementia2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0002439Frontolimbic dementia2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0007307Rapid neurologic deterioration2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0007123Subcortical dementia2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0007272Progressive psychomotor deterioration2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0000727Frontal lobe dementia2CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0007307Rapid neurologic deterioration2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0002439Frontolimbic dementia2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0007272Progressive psychomotor deterioration2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0000727Frontal lobe dementia2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0007123Subcortical dementia2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0007064Progressive language deterioration2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0002145Frontotemporal dementia2CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0007064Progressive language deterioration2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0002145Frontotemporal dementia2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0002439Frontolimbic dementia2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0007307Rapid neurologic deterioration2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0000727Frontal lobe dementia2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0007123Subcortical dementia2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0007272Progressive psychomotor deterioration2CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0007123Subcortical dementia2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0007272Progressive psychomotor deterioration2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0000727Frontal lobe dementia2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0007064Progressive language deterioration2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0002145Frontotemporal dementia2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0002439Frontolimbic dementia2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0007307Rapid neurologic deterioration2COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0002439Frontolimbic dementia2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0007307Rapid neurologic deterioration2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0000727Frontal lobe dementia2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0007123Subcortical dementia2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0007272Progressive psychomotor deterioration2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0007064Progressive language deterioration2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0002145Frontotemporal dementia2CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0007064Progressive language deterioration2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0002145Frontotemporal dementia2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0002439Frontolimbic dementia2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0007307Rapid neurologic deterioration2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0007123Subcortical dementia2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0007272Progressive psychomotor deterioration2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0000727Frontal lobe dementia2DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0007307Rapid neurologic deterioration2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0002439Frontolimbic dementia2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0007272Progressive psychomotor deterioration2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0000727Frontal lobe dementia2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0007123Subcortical dementia2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0007064Progressive language deterioration2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0002145Frontotemporal dementia2DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0002145Frontotemporal dementia2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0007307Rapid neurologic deterioration2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0002439Frontolimbic dementia2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0007123Subcortical dementia2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0007272Progressive psychomotor deterioration2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0000727Frontal lobe dementia2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0007064Progressive language deterioration2DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0007064Progressive language deterioration2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0002145Frontotemporal dementia2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0002439Frontolimbic dementia2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0007307Rapid neurologic deterioration2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0000727Frontal lobe dementia2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0007123Subcortical dementia2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0007272Progressive psychomotor deterioration2EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0002439Frontolimbic dementia2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0007307Rapid neurologic deterioration2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0000727Frontal lobe dementia2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0007123Subcortical dementia2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0007272Progressive psychomotor deterioration2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0007064Progressive language deterioration2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0002145Frontotemporal dementia2FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0007064Progressive language deterioration2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0002145Frontotemporal dementia2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0002439Frontolimbic dementia2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0007307Rapid neurologic deterioration2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0007123Subcortical dementia2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0007272Progressive psychomotor deterioration2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0000727Frontal lobe dementia2GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0007307Rapid neurologic deterioration2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0002439Frontolimbic dementia2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0007272Progressive psychomotor deterioration2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0000727Frontal lobe dementia2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0007123Subcortical dementia2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0007064Progressive language deterioration2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0002145Frontotemporal dementia2GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0002145Frontotemporal dementia2GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0002439Frontolimbic dementia2GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0007307Rapid neurologic deterioration2GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0000727Frontal lobe dementia2GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0007123Subcortical dementia2GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0007272Progressive psychomotor deterioration2GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0007064Progressive language deterioration2GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0007064Progressive language deterioration2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0002145Frontotemporal dementia2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0002439Frontolimbic dementia2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0007307Rapid neurologic deterioration2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0000727Frontal lobe dementia2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0007123Subcortical dementia2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0007272Progressive psychomotor deterioration2HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0002439Frontolimbic dementia2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0007307Rapid neurologic deterioration2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0000727Frontal lobe dementia2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0007123Subcortical dementia2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0007272Progressive psychomotor deterioration2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0007064Progressive language deterioration2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0002145Frontotemporal dementia2KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0007064Progressive language deterioration2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0002145Frontotemporal dementia2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0002439Frontolimbic dementia2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0007307Rapid neurologic deterioration2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0007123Subcortical dementia2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0007272Progressive psychomotor deterioration2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0000727Frontal lobe dementia2KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0007272Progressive psychomotor deterioration2KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0000727Frontal lobe dementia2KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0007123Subcortical dementia2KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0007064Progressive language deterioration2KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0002145Frontotemporal dementia2KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0007307Rapid neurologic deterioration2KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0002439Frontolimbic dementia2KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0007123Subcortical dementia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0007272Progressive psychomotor deterioration2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0000727Frontal lobe dementia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0007064Progressive language deterioration2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0002145Frontotemporal dementia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0002439Frontolimbic dementia2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0007307Rapid neurologic deterioration2MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0007307Rapid neurologic deterioration2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0002439Frontolimbic dementia2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0007272Progressive psychomotor deterioration2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0000727Frontal lobe dementia2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0007123Subcortical dementia2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0007064Progressive language deterioration2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0002145Frontotemporal dementia2NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0007064Progressive language deterioration2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0002145Frontotemporal dementia2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0002439Frontolimbic dementia2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0007307Rapid neurologic deterioration2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0000727Frontal lobe dementia2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0007123Subcortical dementia2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0007272Progressive psychomotor deterioration2NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0002439Frontolimbic dementia2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0007307Rapid neurologic deterioration2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0000727Frontal lobe dementia2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0007123Subcortical dementia2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0007272Progressive psychomotor deterioration2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0007064Progressive language deterioration2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0002145Frontotemporal dementia2NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0007064Progressive language deterioration2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0002145Frontotemporal dementia2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0002439Frontolimbic dementia2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0007307Rapid neurologic deterioration2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0007123Subcortical dementia2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0007272Progressive psychomotor deterioration2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0000727Frontal lobe dementia2PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0007272Progressive psychomotor deterioration2PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0000727Frontal lobe dementia2PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0007123Subcortical dementia2PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0007064Progressive language deterioration2PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0002145Frontotemporal dementia2PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0007307Rapid neurologic deterioration2PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0002439Frontolimbic dementia2PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0007307Rapid neurologic deterioration2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0002439Frontolimbic dementia2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0007272Progressive psychomotor deterioration2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0000727Frontal lobe dementia2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0007123Subcortical dementia2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0007064Progressive language deterioration2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0002145Frontotemporal dementia2SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0007064Progressive language deterioration2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0002145Frontotemporal dementia2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0002439Frontolimbic dementia2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0007307Rapid neurologic deterioration2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0000727Frontal lobe dementia2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0007123Subcortical dementia2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0007272Progressive psychomotor deterioration2SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0002439Frontolimbic dementia2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0007307Rapid neurologic deterioration2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0000727Frontal lobe dementia2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0007123Subcortical dementia2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0007272Progressive psychomotor deterioration2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0007064Progressive language deterioration2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0002145Frontotemporal dementia2SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0007064Progressive language deterioration2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0002145Frontotemporal dementia2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0002439Frontolimbic dementia2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0007307Rapid neurologic deterioration2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0007123Subcortical dementia2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0007272Progressive psychomotor deterioration2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0000727Frontal lobe dementia2SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0007307Rapid neurologic deterioration2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0002439Frontolimbic dementia2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0007272Progressive psychomotor deterioration2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0000727Frontal lobe dementia2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0007123Subcortical dementia2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0007064Progressive language deterioration2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0002145Frontotemporal dementia2STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0007064Progressive language deterioration2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0002145Frontotemporal dementia2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0002439Frontolimbic dementia2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0007307Rapid neurologic deterioration2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0000727Frontal lobe dementia2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0007123Subcortical dementia2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0007272Progressive psychomotor deterioration2SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0002439Frontolimbic dementia2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0007307Rapid neurologic deterioration2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0000727Frontal lobe dementia2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0007123Subcortical dementia2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0007272Progressive psychomotor deterioration2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0007064Progressive language deterioration2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0002145Frontotemporal dementia2SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0002145Frontotemporal dementia2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0002439Frontolimbic dementia2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0007307Rapid neurologic deterioration2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0000727Frontal lobe dementia2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0007123Subcortical dementia2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0007272Progressive psychomotor deterioration2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0007064Progressive language deterioration2SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0007064Progressive language deterioration2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0002145Frontotemporal dementia2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0002439Frontolimbic dementia2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0007307Rapid neurologic deterioration2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0007123Subcortical dementia2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0007272Progressive psychomotor deterioration2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0000727Frontal lobe dementia2SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0007307Rapid neurologic deterioration2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0002439Frontolimbic dementia2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0007272Progressive psychomotor deterioration2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0000727Frontal lobe dementia2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0007123Subcortical dementia2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0007064Progressive language deterioration2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0002145Frontotemporal dementia2TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0002145Frontotemporal dementia2TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0007307Rapid neurologic deterioration2TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0002439Frontolimbic dementia2TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0007123Subcortical dementia2TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0007272Progressive psychomotor deterioration2TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0000727Frontal lobe dementia2TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0007064Progressive language deterioration2TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0007064Progressive language deterioration2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0002145Frontotemporal dementia2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0002439Frontolimbic dementia2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0007307Rapid neurologic deterioration2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0000727Frontal lobe dementia2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0007123Subcortical dementia2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0007272Progressive psychomotor deterioration2UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0000727Frontal lobe dementia2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0007123Subcortical dementia2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0007272Progressive psychomotor deterioration2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0007064Progressive language deterioration2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0002145Frontotemporal dementia2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0002439Frontolimbic dementia2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0007307Rapid neurologic deterioration2VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0002439Frontolimbic dementia2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0007307Rapid neurologic deterioration2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0000727Frontal lobe dementia2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0007123Subcortical dementia2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0007272Progressive psychomotor deterioration2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0007064Progressive language deterioration2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0002145Frontotemporal dementia2WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0007064Progressive language deterioration2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0002145Frontotemporal dementia2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0002439Frontolimbic dementia2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0007307Rapid neurologic deterioration2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0000727Frontal lobe dementia2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0007123Subcortical dementia2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0007272Progressive psychomotor deterioration2YWHAG CL E G H7532442835ORPHA018912852605356
HP:0001268HP:0030219Semantic dementia3AARS CL E G H16442835ORPHA020601065
HP:0001268HP:0030219Semantic dementia3AP3B2 CL E G H8120442835ORPHA0690567602166
HP:0001268HP:0030219Semantic dementia3APTX CL E G H54840208920Ataxia-oculomotor apraxia type 1208920C1859598OMIM033115984606350
HP:0001268HP:0030219Semantic dementia3ARV1 CL E G H64801442835ORPHA08929561611647
HP:0001268HP:0030219Semantic dementia3ATP6V1A CL E G H523442835ORPHA0229851607027
HP:0001268HP:0030219Semantic dementia3ATXN7 CL E G H6314164500Spinocerebellar ataxia 7164500C0752125OMIM09810560607640
HP:0001268HP:0030219Semantic dementia3CACNA1A CL E G H773442835ORPHA032481388601011
HP:0001268HP:0030219Semantic dementia3CLTC CL E G H1213442835ORPHA06452092118955
HP:0001268HP:0030219Semantic dementia3CNKSR2 CL E G H22866442835ORPHA030619701300724
HP:0001268HP:0030219Semantic dementia3COL18A1 CL E G H80781267750Knobloch syndrome 1267750C1849409OMIM027172195120328
HP:0001268HP:0030219Semantic dementia3CYFIP2 CL E G H26999442835ORPHA066813760606323
HP:0001268HP:0030219Semantic dementia3DHDDS CL E G H79947442835ORPHA043420603608172
HP:0001268HP:0030219Semantic dementia3DNM1 CL E G H1759442835ORPHA07652972602377
HP:0001268HP:0030219Semantic dementia3DNMT1 CL E G H1786314404ORPHA011962976126375
HP:0001268HP:0030219Semantic dementia3EEF1A2 CL E G H1917442835ORPHA05753192602959
HP:0001268HP:0030219Semantic dementia3FGF12 CL E G H2257442835ORPHA02593668601513
HP:0001268HP:0030219Semantic dementia3GABRB2 CL E G H2561442835ORPHA04944082600232
HP:0001268HP:0030219Semantic dementia3GRIN2D CL E G H2906442835ORPHA08234588602717
HP:0001268HP:0030219Semantic dementia3GRN CL E G H2896614706Ceroid lipofuscinosis, neuronal, 11614706C3539123OMIM05944601138945
HP:0001268HP:0030219Semantic dementia3HCN1 CL E G H348980442835ORPHA07964845602780
HP:0001268HP:0030219Semantic dementia3KCNA2 CL E G H3737442835ORPHA04016220176262
HP:0001268HP:0030219Semantic dementia3KCNB1 CL E G H3745442835ORPHA06356231600397
HP:0001268HP:0030219Semantic dementia3KCNC1 CL E G H3746616187Epilepsy, progressive myoclonic 7616187C4015420OMIM03916233176258
HP:0001268HP:0030219Semantic dementia3MFN2 CL E G H9927609260Charcot-Marie-Tooth disease, type 2A2A609260C1836485OMIM0122216877608507
HP:0001268HP:0030219Semantic dementia3NECAP1 CL E G H25977442835ORPHA022124539611623
HP:0001268HP:0030219Semantic dementia3NTRK2 CL E G H4915442835ORPHA05098032600456
HP:0001268HP:0030219Semantic dementia3NUS1 CL E G H116150442835ORPHA032621042610463
HP:0001268HP:0030219Semantic dementia3PPP3CA CL E G H5530442835ORPHA03519314114105
HP:0001268HP:0030219Semantic dementia3PRDM8 CL E G H56978324290ORPHA043913993616639
HP:0001268HP:0030219Semantic dementia3SCN3A CL E G H6328442835ORPHA0142010590182391
HP:0001268HP:0030219Semantic dementia3SCN8A CL E G H6334442835ORPHA0179910596600702
HP:0001268HP:0030219Semantic dementia3SLC13A5 CL E G H284111442835ORPHA068523089608305
HP:0001268HP:0030219Semantic dementia3SLC1A2 CL E G H6506442835ORPHA035910940600300
HP:0001268HP:0030219Semantic dementia3STXBP1 CL E G H6812442835ORPHA0101711444602926
HP:0001268HP:0030219Semantic dementia3SYNGAP1 CL E G H8831442835ORPHA0133511497603384
HP:0001268HP:0030219Semantic dementia3SYNJ1 CL E G H8867442835ORPHA0131511503604297
HP:0001268HP:0030219Semantic dementia3SYNJ1 CL E G H8867615530Parkinson disease 20, early-onset615530C3809824OMIM0131511503604297
HP:0001268HP:0030219Semantic dementia3SZT2 CL E G H23334442835ORPHA0286229040615463
HP:0001268HP:0030219Semantic dementia3TRAK1 CL E G H22906442835ORPHA020829947608112
HP:0001268HP:0030219Semantic dementia3TTPA CL E G H727496ORPHA038912404600415
HP:0001268HP:0030219Semantic dementia3UBA5 CL E G H79876442835ORPHA022323230610552
HP:0001268HP:0030219Semantic dementia3VPS13C CL E G H54832616840Parkinson disease 23, autosomal recessive early-onset616840C4225186OMIM082823594608879
HP:0001268HP:0030219Semantic dementia3WWOX CL E G H51741442835ORPHA0110212799605131
HP:0001268HP:0030219Semantic dementia3YWHAG CL E G H7532442835ORPHA018912852605356


Genes (262) :AARS AARS2 ABCA7 ABCC8 ABCD1 ACTB ADA2 ALDH18A1 AMN AP3B2 AP5Z1 APOE APP APTX ARSA ARV1 ASAH1 ATN1 ATP13A2 ATP1A2 ATP1A3 ATP6 ATP6V0A2 ATP6V1A ATP6V1E1 ATP7B ATXN10 ATXN2 ATXN3 ATXN7 BSCL2 C19ORF12 C19orf12 C9ORF72 CACNA1A CERS1 CHCHD10 CHD2 CHMP2B CISD2 CLN3 CLN5 CLN6 CLN8 CLTC CNKSR2 CNTNAP2 COASY COL18A1 COX1 COX2 COX3 CP CPLX1 CSF1R CST3 CSTB CTC1 CTNS CTSD CTSF CUBN CUX2 CYFIP2 CYP27A1 CYTB DCAF17 DCTN1 DGUOK DHDDS DISC2 DNAJC13 DNAJC5 DNM1 DNMT1 EEF1A2 EIF4G1 EPM2A ERCC2 ERCC4 ERCC6 ERCC8 FA2H FBXO7 FGF12 FMR1 FTL FUS GABRB2 GABRB3 GALC GBA GBA2 GBE1 GCH1 GIGYF2 GLB1 GM2A GNAS GPIHBP1 GRIN2D GRN HCN1 HEPACAM HEXA HEXB HGSNAT HNF1A HNF4A HNRNPA1 HNRNPA2B1 HSD17B10 HTRA1 HTT IDUA IRF6 ITM2B JPH3 KCNA2 KCNB1 KCNC1 KCNJ11 KCTD7 KMT2A LMF1 LMNB1 LRRK2 MAPK10 MAPT MATR3 MBTPS2 MCOLN1 MECP2 MFN2 MFSD8 MMACHC MT-TK NAGLU NBN ND1 ND5 ND6 NDP NDUFA6 NECAP1 NHLRC1 NOTCH3 NPC1 NPC2 NR4A2 NRAS NTRK2 NUS1 PAH PANK2 PDE10A PDE11A PDGFB PDGFRB PINK1 PLA2G6 PLEKHG4 PLP1 PNPLA6 POLG PPP2R2B PPP3CA PPT1 PRDM8 PRDX1 PRICKLE1 PRKAR1A PRKAR1B PRKCG PRNP PSAP PSEN1 PSEN2 PTS QDPR RAB27A RAB39B RBM28 RNASEH1 RNF216 ROGDI RRM2B SCARB2 SCN1A SCN3A SCN8A SDHA SDHAF1 SDHB SDHD SERPINI1 SGPL1 SLC13A5 SLC1A2 SLC20A2 SLC2A3 SLC6A1 SMC1A SNCA SNCAIP SNCB SNORD118 SORL1 SPAST SPG11 SPG21 SQSTM1 STXBP1 SUMF1 SYNGAP1 SYNJ1 SZT2 TARDBP TBC1D24 TBK1 TBP TIMM8A TIMMDC1 TINF2 TK2 TMEM106B TOMM40 TRAK1 TREM2 TREX1 TRNC TRNE TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNV TRNW TTPA TTR TUBA4A TUBB4A TWNK TYMP TYROBP UBA5 UBQLN2 UBTF UCP2 VCP VPS13A VPS13C VPS35 WDR45 WFS1 WWOX XPA XPR1 YWHAG ZFYVE26

Diseases (261) :442835 79107 182410 613647 208920 250100 104290 614820 94147 164500 615924 289560 2382 1942 1947 610003 615643 267750 352582 254800 612199 610127 3464 314404 278730 278800 171629 612319 219080 614706 616779 616187 609260 610951 647 249400 616922 610475 213600 610217 324290 610489 605361 249900 607208 617575 168601 614561 2822 604360 617145 615530 98759 304700 247691 1349 96 617672 616840 278700 615889 276575 300100 820 447757 447753 261100 104310 606889 100006 324708 324713 324703 104300 605714 309271 2590 159950 101 125370 306674 513436 606693 617225 644 551500 357074 277900 603516 98756 183090 109150 614298 100069 616230 3463 204200 256731 204300 601780 540000 48818 105150 308 219800 615362 213700 178509 329314 181500 411602 162350 604121 614116 254780 278760 216400 171695 93256 300623 157846 245200 77261 230900 608013 231000 320391 614409 206583 233910 272750 444490 613925 272800 252930 324575 263455 300438 600142 248111 399 143100 607014 119500 176500 117300 98934 606438 276580 263516 319182 169500 260540 600 606070 2273 252650 312750 277400 252920 310600 618253 136 257220 607625 168600 79254 607236 234200 615483 615007 616592 605909 98765 312080 1173 298 203700 98762 604326 256730 616640 412066 157941 282166 600072 137440 603218 123400 606688 607822 261640 261630 607624 311510 612079 329336 212840 1946 226750 612075 3208 604218 127750 605543 182601 101001 248900 617389 618251 268130 254875 192315 2596 105210 98805 609286 276556 329478 167320 200150 329284 300894 411590 616413 309263 363400 275864 275872 100070 105550 615911 614696 600795 610042 221820 168605 606159 230600 607485 268800 52430 615422 600274 172700 601104 125310 199351 612953 616437 585 272200 612069 616439 607136 2770 616208 221770 300857 100996 1020
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.