Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Behavioral abnormality (HP:0000708)help
..Starting node
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Abnormal emotion/affect behavior (HP:0100851)help
Term ID: 100851
Name: Abnormal emotion/affect behavior
Synonym: Abnormal emotion/affect behaviour
Definition: An abnormality of emotional behaviour.
Comments:
Reference: HP:0100851
Genes and Diseases:
 
       Child Nodes:
........expandMood swings (HP:0000720) help
........expandIrritability (HP:0000737) help
........expandDiminished motivation (HP:0000745) help
................... HP:0000741 Apathy
................... HP:0012671 Abulia
................... HP:0012672 Akinetic mutism
................... HP:0030216 Inertia
........expandMood changes (HP:0001575) help
........expandAbnormal aggressive, impulsive or violent behavior (HP:0006919) help
................... HP:0000718 Aggressive behavior
................... HP:0008760 Violent behavior
................... HP:0100716 Self-injurious behavior
........expandEmotional blunting (HP:0030213) help
........expandUnhappy demeanor (HP:0031588) help
........expandSuicidal ideation (HP:0031589) help
........expandEuphoria (HP:0031844) help
........expandHappy demeanor (HP:0040082) help
........expandConspicuously happy disposition (HP:0100024) help

 Sister Nodes: 
..expandAbnormal consumption behavior (HP:0040202) help
..expandAbnormal social behavior (HP:0012433) help
..expandAbnormal temper tantrums (HP:0025160) help
..expandAddictive behavior (HP:0030858) help
..expandAutistic behavior (HP:0000729) help
..expandDelusions (HP:0000746) help
..expandDrooling (HP:0002307) help
..expandEcholalia (HP:0010529) help
..expandHallucinations (HP:0000738) help
..expandHyperorality (HP:0000710) help
..expandImpairment in personality functioning (HP:0031466) help
..expandInflexible adherence to routines or rituals (HP:0000732) help
..expandLack of insight (HP:0000757) help
..expandLack of spontaneous play (HP:0000721) help
..expandLow frustration tolerance (HP:0000744) help
..expandMania (HP:0100754) help
..expandMutism (HP:0002300) help
..expandObsessive-compulsive behavior (HP:0000722) help
..expandobsolete Psychomotor retardation (HP:0025356) help
..expandOppositional defiant disorder (HP:0010865) help
..expandPerseveration (HP:0030223) help
..expandPersonality changes (HP:0000751) help
..expandPhotophobia (HP:0000613) help
..expandPseudobulbar behavioral symptoms (HP:0002193) help
..expandPsychosis (HP:0000709) help
..expandRestlessness (HP:0000711) help
..expandSchizophrenia (HP:0100753) help
..expandSelf-neglect (HP:0025479) help
..expandShort attention span (HP:0000736) help
..expandSleep disturbance (HP:0002360) help
..expandSound sensitivity (HP:0025112) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100851HP:0100851Abnormal emotion/affect behavior0ABCA12 CL E G H2615414637ORPHA:457Harlequin ichthyosis130
HP:0100851HP:0100851Abnormal emotion/affect behavior0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0100851HP:0100851Abnormal emotion/affect behavior0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancy415
HP:0100851HP:0100851Abnormal emotion/affect behavior0ABCC8 CL E G H683359OMIM:240800Hypoglycemia of infancy, leucine-sensitive245
HP:0100851HP:0100851Abnormal emotion/affect behavior0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiency91
HP:0100851HP:0100851Abnormal emotion/affect behavior0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0100851HP:0100851Abnormal emotion/affect behavior0ACTN4 CL E G H81166ORPHA:656Genetic steroid-resistant nephrotic syndrome27
HP:0100851HP:0100851Abnormal emotion/affect behavior0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndrome116
HP:0100851HP:0100851Abnormal emotion/affect behavior0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6116
HP:0100851HP:0100851Abnormal emotion/affect behavior0ADAT3 CL E G H11317925151ORPHA:363528Intellectual disability-strabismus syndrome9
HP:0100851HP:0100851Abnormal emotion/affect behavior0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 369
HP:0100851HP:0100851Abnormal emotion/affect behavior0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0100851HP:0100851Abnormal emotion/affect behavior0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0100851HP:0100851Abnormal emotion/affect behavior0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disability59
HP:0100851HP:0100851Abnormal emotion/affect behavior0AFF2 CL E G H23343776OMIM:309548Mental retardation, X-linked, associated with fragile site fraxe59
HP:0100851HP:0100851Abnormal emotion/affect behavior0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0100851HP:0100851Abnormal emotion/affect behavior0AIFM1 CL E G H91318768OMIM:300816Combined oxidative phosphorylation deficiency 660
HP:0100851HP:0100851Abnormal emotion/affect behavior0AIFM1 CL E G H91318768ORPHA:238329Severe X-linked mitochondrial encephalomyopathy60
HP:0100851HP:0100851Abnormal emotion/affect behavior0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic95
HP:0100851HP:0100851Abnormal emotion/affect behavior0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0100851HP:0100851Abnormal emotion/affect behavior0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiency62
HP:0100851HP:0100851Abnormal emotion/affect behavior0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 274
HP:0100851HP:0100851Abnormal emotion/affect behavior0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0100851HP:0100851Abnormal emotion/affect behavior0ALDH7A1 CL E G H501877ORPHA:3006Pyridoxine-dependent epilepsy227
HP:0100851HP:0100851Abnormal emotion/affect behavior0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 3696
HP:0100851HP:0100851Abnormal emotion/affect behavior0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0100851HP:0100851Abnormal emotion/affect behavior0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0100851HP:0100851Abnormal emotion/affect behavior0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile126
HP:0100851HP:0100851Abnormal emotion/affect behavior0AMT CL E G H275473OMIM:605899Glycine encephalopathy56
HP:0100851HP:0100851Abnormal emotion/affect behavior0ANG CL E G H283483ORPHA:803Amyotrophic lateral sclerosis32
HP:0100851HP:0100851Abnormal emotion/affect behavior0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndrome176
HP:0100851HP:0100851Abnormal emotion/affect behavior0ANK3 CL E G H288494OMIM:615493Mental retardation, autosomal recessive 37176
HP:0100851HP:0100851Abnormal emotion/affect behavior0ANKFY1 CL E G H5147920763ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0ANLN CL E G H5444314082ORPHA:656Genetic steroid-resistant nephrotic syndrome6
HP:0100851HP:0100851Abnormal emotion/affect behavior0ANXA11 CL E G H311535ORPHA:803Amyotrophic lateral sclerosis
HP:0100851HP:0100851Abnormal emotion/affect behavior0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0100851HP:0100851Abnormal emotion/affect behavior0AP1G1 CL E G H164555OMIM:619548USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE; USRISR
HP:0100851HP:0100851Abnormal emotion/affect behavior0AP1S2 CL E G H8905560ORPHA:85335Fried syndrome13
HP:0100851HP:0100851Abnormal emotion/affect behavior0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndrome13
HP:0100851HP:0100851Abnormal emotion/affect behavior0AP1S2 CL E G H8905560ORPHA:85329X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome13
HP:0100851HP:0100851Abnormal emotion/affect behavior0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional
HP:0100851HP:0100851Abnormal emotion/affect behavior0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0100851HP:0100851Abnormal emotion/affect behavior0APOL1 CL E G H8542618ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0100851HP:0100851Abnormal emotion/affect behavior0AQP2 CL E G H359634OMIM:125800Diabetes insipidus, nephrogenic, 275
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARG1 CL E G H383663OMIM:207800Argininemia31
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARHGAP24 CL E G H8347825361ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARHGDIA CL E G H396678ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARPC4 CL E G H10093707OMIM:620141
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy253
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0100851HP:0100851Abnormal emotion/affect behavior0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathy166
HP:0100851HP:0100851Abnormal emotion/affect behavior0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis78
HP:0100851HP:0100851Abnormal emotion/affect behavior0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0100851HP:0100851Abnormal emotion/affect behavior0ASL CL E G H435746OMIM:207900Argininosuccinic aciduria81
HP:0100851HP:0100851Abnormal emotion/affect behavior0ASPA CL E G H443756ORPHA:314911Severe Canavan disease48
HP:0100851HP:0100851Abnormal emotion/affect behavior0ASS1 CL E G H445758OMIM:215700Citrullinemia, classic119
HP:0100851HP:0100851Abnormal emotion/affect behavior0ASXL1 CL E G H17102318318ORPHA:97297Bohring-Opitz syndrome145
HP:0100851HP:0100851Abnormal emotion/affect behavior0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome100
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndrome100
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP1A1 CL E G H476799OMIM:618314Hypomagnesemia, seizures, and mental retardation 24
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP1A3 CL E G H478801OMIM:128235Dystonia 12150
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonism150
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP5F1A CL E G H498823OMIM:615228Mitochondrial complex V (atp synthase) deficiency, nuclear type 4
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP6 CL E G H45087414ORPHA:644NARP syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATP7B CL E G H540870ORPHA:905Wilson disease315
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATXN1 CL E G H631010548ORPHA:98755Spinocerebellar ataxia type 119
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0100851HP:0100851Abnormal emotion/affect behavior0ATXN2 CL E G H631110555ORPHA:803Amyotrophic lateral sclerosis11
HP:0100851HP:0100851Abnormal emotion/affect behavior0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I49
HP:0100851HP:0100851Abnormal emotion/affect behavior0AVP CL E G H551894ORPHA:30925Hereditary central diabetes insipidus22
HP:0100851HP:0100851Abnormal emotion/affect behavior0AVPR2 CL E G H554897OMIM:304800Diabetes insipidus, nephrogenic, X-linked67
HP:0100851HP:0100851Abnormal emotion/affect behavior0AVPR2 CL E G H554897OMIM:300539Nephrogenic syndrome of inappropriate antidiuresis67
HP:0100851HP:0100851Abnormal emotion/affect behavior0B4GALNT1 CL E G H25834117OMIM:609195Spastic paraplegia 26, autosomal recessive25
HP:0100851HP:0100851Abnormal emotion/affect behavior0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0100851HP:0100851Abnormal emotion/affect behavior0BCAP31 CL E G H1013416695ORPHA:369939Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome8
HP:0100851HP:0100851Abnormal emotion/affect behavior0BCOR CL E G H5488020893ORPHA:568Microphthalmia, Lenz type101
HP:0100851HP:0100851Abnormal emotion/affect behavior0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0100851HP:0100851Abnormal emotion/affect behavior0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0100851HP:0100851Abnormal emotion/affect behavior0BCS1L CL E G H6171020OMIM:124000Mitochondrial complex III deficiency, nuclear type 172
HP:0100851HP:0100851Abnormal emotion/affect behavior0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0100851HP:0100851Abnormal emotion/affect behavior0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type X385
HP:0100851HP:0100851Abnormal emotion/affect behavior0BPTF CL E G H21863581ORPHA:52996217q24.2 microdeletion syndrome2
HP:0100851HP:0100851Abnormal emotion/affect behavior0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0100851HP:0100851Abnormal emotion/affect behavior0BRF1 CL E G H297211551OMIM:616202Cerebellofaciodental syndrome7
HP:0100851HP:0100851Abnormal emotion/affect behavior0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafness53
HP:0100851HP:0100851Abnormal emotion/affect behavior0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0100851HP:0100851Abnormal emotion/affect behavior0C19ORF12 CL E G H8363625443OMIM:614298Neurodegeneration with brain iron accumulation 4114
HP:0100851HP:0100851Abnormal emotion/affect behavior0C4A CL E G H7201323ORPHA:117Behçet disease1
HP:0100851HP:0100851Abnormal emotion/affect behavior0C9ORF72 CL E G H20322828337ORPHA:803Amyotrophic lateral sclerosis56
HP:0100851HP:0100851Abnormal emotion/affect behavior0C9ORF72 CL E G H20322828337OMIM:105550Amyotrophic lateral sclerosis and/or frontotemporal dementia 156
HP:0100851HP:0100851Abnormal emotion/affect behavior0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementia56
HP:0100851HP:0100851Abnormal emotion/affect behavior0C9ORF72 CL E G H20322828337ORPHA:275872Frontotemporal dementia with motor neuron disease56
HP:0100851HP:0100851Abnormal emotion/affect behavior0C9ORF72 CL E G H20322828337ORPHA:100069Semantic dementia56
HP:0100851HP:0100851Abnormal emotion/affect behavior0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy94
HP:0100851HP:0100851Abnormal emotion/affect behavior0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0100851HP:0100851Abnormal emotion/affect behavior0CACNA1A CL E G H7731388ORPHA:71518Benign paroxysmal torticollis of infancy449
HP:0100851HP:0100851Abnormal emotion/affect behavior0CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndrome449
HP:0100851HP:0100851Abnormal emotion/affect behavior0CACNB4 CL E G H7851404ORPHA:307Juvenile myoclonic epilepsy146
HP:0100851HP:0100851Abnormal emotion/affect behavior0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0100851HP:0100851Abnormal emotion/affect behavior0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0100851HP:0100851Abnormal emotion/affect behavior0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0100851HP:0100851Abnormal emotion/affect behavior0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability34
HP:0100851HP:0100851Abnormal emotion/affect behavior0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0100851HP:0100851Abnormal emotion/affect behavior0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathy118
HP:0100851HP:0100851Abnormal emotion/affect behavior0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemia272
HP:0100851HP:0100851Abnormal emotion/affect behavior0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0100851HP:0100851Abnormal emotion/affect behavior0CCNF CL E G H8991591ORPHA:803Amyotrophic lateral sclerosis
HP:0100851HP:0100851Abnormal emotion/affect behavior0CCR1 CL E G H12301602ORPHA:117Behçet disease
HP:0100851HP:0100851Abnormal emotion/affect behavior0CD2AP CL E G H2360714258ORPHA:656Genetic steroid-resistant nephrotic syndrome105
HP:0100851HP:0100851Abnormal emotion/affect behavior0CDC42BPB CL E G H95781738OMIM:619841
HP:0100851HP:0100851Abnormal emotion/affect behavior0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0100851HP:0100851Abnormal emotion/affect behavior0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0100851HP:0100851Abnormal emotion/affect behavior0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathy405
HP:0100851HP:0100851Abnormal emotion/affect behavior0CDKN2A CL E G H10291787ORPHA:1501Adrenocortical carcinoma289
HP:0100851HP:0100851Abnormal emotion/affect behavior0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0100851HP:0100851Abnormal emotion/affect behavior0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0100851HP:0100851Abnormal emotion/affect behavior0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0100851HP:0100851Abnormal emotion/affect behavior0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0100851HP:0100851Abnormal emotion/affect behavior0CEP104 CL E G H973124866OMIM:6199885
HP:0100851HP:0100851Abnormal emotion/affect behavior0CEP152 CL E G H2299529298OMIM:614852Microcephaly 9, primary, autosomal recessive146
HP:0100851HP:0100851Abnormal emotion/affect behavior0CEP290 CL E G H8018429021OMIM:610188Joubert syndrome 5342
HP:0100851HP:0100851Abnormal emotion/affect behavior0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0100851HP:0100851Abnormal emotion/affect behavior0CFAP410 CL E G H7551260ORPHA:803Amyotrophic lateral sclerosis
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHCHD10 CL E G H40091615559ORPHA:803Amyotrophic lateral sclerosis11
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHCHD10 CL E G H40091615559ORPHA:275872Frontotemporal dementia with motor neuron disease11
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndrome227
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional227
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHD5 CL E G H2603816816OMIM:619873
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHKA CL E G H11191937OMIM:620023
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHMP2B CL E G H2597824537ORPHA:803Amyotrophic lateral sclerosis42
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementia42
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHMP2B CL E G H2597824537OMIM:600795Frontotemporal dementia and/or amytrophic lateral sclerosis 742
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHMP2B CL E G H2597824537ORPHA:100069Semantic dementia42
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy188
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy225
HP:0100851HP:0100851Abnormal emotion/affect behavior0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy88
HP:0100851HP:0100851Abnormal emotion/affect behavior0CILK1 CL E G H2285821219ORPHA:307Juvenile myoclonic epilepsy
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLCN2 CL E G H11812020ORPHA:307Juvenile myoclonic epilepsy44
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndrome45
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome45
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafness9
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafness27
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLN5 CL E G H12032076ORPHA:228360CLN5 disease141
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLN8 CL E G H20552079OMIM:610003Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant111
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 107
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLTCL1 CL E G H82182093ORPHA:453510Congenital insensitivity to pain with severe intellectual disability6
HP:0100851HP:0100851Abnormal emotion/affect behavior0CLTRN CL E G H5739329437ORPHA:2116Hartnup disease
HP:0100851HP:0100851Abnormal emotion/affect behavior0CNP CL E G H12672158OMIM:619071LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0100851HP:0100851Abnormal emotion/affect behavior0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0100851HP:0100851Abnormal emotion/affect behavior0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1518
HP:0100851HP:0100851Abnormal emotion/affect behavior0COG4 CL E G H2583918620ORPHA:263501COG4-CDG67
HP:0100851HP:0100851Abnormal emotion/affect behavior0COG4 CL E G H2583918620OMIM:613489Congenital disorder of glycosylation, type IIj67
HP:0100851HP:0100851Abnormal emotion/affect behavior0COL4A3 CL E G H12852204ORPHA:656Genetic steroid-resistant nephrotic syndrome161
HP:0100851HP:0100851Abnormal emotion/affect behavior0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0100851HP:0100851Abnormal emotion/affect behavior0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0100851HP:0100851Abnormal emotion/affect behavior0COQ8B CL E G H7993419041ORPHA:656Genetic steroid-resistant nephrotic syndrome35
HP:0100851HP:0100851Abnormal emotion/affect behavior0COX15 CL E G H13552263ORPHA:255241Leigh syndrome with leukodystrophy104
HP:0100851HP:0100851Abnormal emotion/affect behavior0CP CL E G H13562295ORPHA:48818Aceruloplasminemia115
HP:0100851HP:0100851Abnormal emotion/affect behavior0CPS1 CL E G H13732323OMIM:237300Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to124
HP:0100851HP:0100851Abnormal emotion/affect behavior0CRB2 CL E G H28620418688ORPHA:656Genetic steroid-resistant nephrotic syndrome12
HP:0100851HP:0100851Abnormal emotion/affect behavior0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0100851HP:0100851Abnormal emotion/affect behavior0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0100851HP:0100851Abnormal emotion/affect behavior0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0100851HP:0100851Abnormal emotion/affect behavior0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0100851HP:0100851Abnormal emotion/affect behavior0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy1
HP:0100851HP:0100851Abnormal emotion/affect behavior0CTNNB1 CL E G H14992514ORPHA:1501Adrenocortical carcinoma88
HP:0100851HP:0100851Abnormal emotion/affect behavior0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0100851HP:0100851Abnormal emotion/affect behavior0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndrome88
HP:0100851HP:0100851Abnormal emotion/affect behavior0CTSF CL E G H87222531OMIM:615362Ceroid lipofuscinosis, neuronal, 1320
HP:0100851HP:0100851Abnormal emotion/affect behavior0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0100851HP:0100851Abnormal emotion/affect behavior0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas type38
HP:0100851HP:0100851Abnormal emotion/affect behavior0CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0100851HP:0100851Abnormal emotion/affect behavior0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent rickets41
HP:0100851HP:0100851Abnormal emotion/affect behavior0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A41
HP:0100851HP:0100851Abnormal emotion/affect behavior0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent rickets5
HP:0100851HP:0100851Abnormal emotion/affect behavior0DAAM2 CL E G H2350018143ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0DAO CL E G H16102671ORPHA:803Amyotrophic lateral sclerosis
HP:0100851HP:0100851Abnormal emotion/affect behavior0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0100851HP:0100851Abnormal emotion/affect behavior0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0100851HP:0100851Abnormal emotion/affect behavior0DCHS1 CL E G H864213681ORPHA:314679Cerebrofacioarticular syndrome27
HP:0100851HP:0100851Abnormal emotion/affect behavior0DCTN1 CL E G H16392711ORPHA:803Amyotrophic lateral sclerosis86
HP:0100851HP:0100851Abnormal emotion/affect behavior0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0100851HP:0100851Abnormal emotion/affect behavior0DCTN1 CL E G H16392711ORPHA:178509Perry syndrome86
HP:0100851HP:0100851Abnormal emotion/affect behavior0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutation145
HP:0100851HP:0100851Abnormal emotion/affect behavior0DDC CL E G H16442719OMIM:608643Aromatic L-amino acid decarboxylase deficiency43
HP:0100851HP:0100851Abnormal emotion/affect behavior0DDX3X CL E G H16542745OMIM:300958MENTAL RETARDATION, X-LINKED 102; MRX10257
HP:0100851HP:0100851Abnormal emotion/affect behavior0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndrome57
HP:0100851HP:0100851Abnormal emotion/affect behavior0DEAF1 CL E G H1052214677OMIM:617171Dyskinesia, seizures, and intellectual developmental disorder33
HP:0100851HP:0100851Abnormal emotion/affect behavior0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndrome33
HP:0100851HP:0100851Abnormal emotion/affect behavior0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 2433
HP:0100851HP:0100851Abnormal emotion/affect behavior0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0100851HP:0100851Abnormal emotion/affect behavior0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy172
HP:0100851HP:0100851Abnormal emotion/affect behavior0DGCR2 CL E G H99932845OMIM:192430Velocardiofacial syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0DGCR6 CL E G H82142846OMIM:192430Velocardiofacial syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0DGCR8 CL E G H544872847OMIM:192430Velocardiofacial syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0100851HP:0100851Abnormal emotion/affect behavior0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0100851HP:0100851Abnormal emotion/affect behavior0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0100851HP:0100851Abnormal emotion/affect behavior0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0100851HP:0100851Abnormal emotion/affect behavior0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0100851HP:0100851Abnormal emotion/affect behavior0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0100851HP:0100851Abnormal emotion/affect behavior0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0100851HP:0100851Abnormal emotion/affect behavior0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0100851HP:0100851Abnormal emotion/affect behavior0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0100851HP:0100851Abnormal emotion/affect behavior0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0100851HP:0100851Abnormal emotion/affect behavior0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathy3
HP:0100851HP:0100851Abnormal emotion/affect behavior0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0100851HP:0100851Abnormal emotion/affect behavior0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson disease6
HP:0100851HP:0100851Abnormal emotion/affect behavior0DNM1 CL E G H17592972OMIM:616346Epileptic encephalopathy, early infantile, 3172
HP:0100851HP:0100851Abnormal emotion/affect behavior0DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndrome72
HP:0100851HP:0100851Abnormal emotion/affect behavior0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0100851HP:0100851Abnormal emotion/affect behavior0DNMT1 CL E G H17862976OMIM:614116Neuropathy, hereditary sensory, type IE145
HP:0100851HP:0100851Abnormal emotion/affect behavior0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0100851HP:0100851Abnormal emotion/affect behavior0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0100851HP:0100851Abnormal emotion/affect behavior0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0100851HP:0100851Abnormal emotion/affect behavior0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndrome144
HP:0100851HP:0100851Abnormal emotion/affect behavior0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0100851HP:0100851Abnormal emotion/affect behavior0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0100851HP:0100851Abnormal emotion/affect behavior0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0100851HP:0100851Abnormal emotion/affect behavior0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion134
HP:0100851HP:0100851Abnormal emotion/affect behavior0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0100851HP:0100851Abnormal emotion/affect behavior0EBP CL E G H106823133ORPHA:401973MEND syndrome51
HP:0100851HP:0100851Abnormal emotion/affect behavior0ECHS1 CL E G H18923151ORPHA:255241Leigh syndrome with leukodystrophy33
HP:0100851HP:0100851Abnormal emotion/affect behavior0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0100851HP:0100851Abnormal emotion/affect behavior0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 3360
HP:0100851HP:0100851Abnormal emotion/affect behavior0EEF1A2 CL E G H19173192OMIM:616393Mental retardation, autosomal dominant 3860
HP:0100851HP:0100851Abnormal emotion/affect behavior0EFHC1 CL E G H11432716406ORPHA:307Juvenile myoclonic epilepsy153
HP:0100851HP:0100851Abnormal emotion/affect behavior0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0100851HP:0100851Abnormal emotion/affect behavior0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0100851HP:0100851Abnormal emotion/affect behavior0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutation223
HP:0100851HP:0100851Abnormal emotion/affect behavior0EIF2B1 CL E G H19673257OMIM:603896Leukoencephalopathy with vanishing white matter42
HP:0100851HP:0100851Abnormal emotion/affect behavior0EIF2B2 CL E G H88923258OMIM:603896Leukoencephalopathy with vanishing white matter24
HP:0100851HP:0100851Abnormal emotion/affect behavior0EIF2B3 CL E G H88913259OMIM:603896Leukoencephalopathy with vanishing white matter32
HP:0100851HP:0100851Abnormal emotion/affect behavior0EIF2B4 CL E G H88903260OMIM:603896Leukoencephalopathy with vanishing white matter38
HP:0100851HP:0100851Abnormal emotion/affect behavior0EIF2B5 CL E G H88933261OMIM:603896Leukoencephalopathy with vanishing white matter48
HP:0100851HP:0100851Abnormal emotion/affect behavior0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0100851HP:0100851Abnormal emotion/affect behavior0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson disease2
HP:0100851HP:0100851Abnormal emotion/affect behavior0ELP1 CL E G H85185959OMIM:223900Neuropathy, hereditary sensory and autonomic, type III133
HP:0100851HP:0100851Abnormal emotion/affect behavior0ELP2 CL E G H5525018248OMIM:617270Mental retardation, autosomal recessive 586
HP:0100851HP:0100851Abnormal emotion/affect behavior0EMP2 CL E G H20133334ORPHA:656Genetic steroid-resistant nephrotic syndrome4
HP:0100851HP:0100851Abnormal emotion/affect behavior0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancy151
HP:0100851HP:0100851Abnormal emotion/affect behavior0ENTPD1 CL E G H9533363ORPHA:401810Autosomal recessive spastic paraplegia type 643
HP:0100851HP:0100851Abnormal emotion/affect behavior0ENTPD1 CL E G H9533363OMIM:615683Spastic paraplegia 64, autosomal recessive3
HP:0100851HP:0100851Abnormal emotion/affect behavior0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0100851HP:0100851Abnormal emotion/affect behavior0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0100851HP:0100851Abnormal emotion/affect behavior0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathy170
HP:0100851HP:0100851Abnormal emotion/affect behavior0EPCAM CL E G H407211529ORPHA:144Lynch syndrome170
HP:0100851HP:0100851Abnormal emotion/affect behavior0EPHA4 CL E G H20433388ORPHA:803Amyotrophic lateral sclerosis4
HP:0100851HP:0100851Abnormal emotion/affect behavior0EPM2A CL E G H79573413ORPHA:501Lafora disease83
HP:0100851HP:0100851Abnormal emotion/affect behavior0ERAP1 CL E G H5175218173ORPHA:117Behçet disease1
HP:0100851HP:0100851Abnormal emotion/affect behavior0ERBB4 CL E G H20663432ORPHA:803Amyotrophic lateral sclerosis15
HP:0100851HP:0100851Abnormal emotion/affect behavior0ESS2 CL E G H822016817OMIM:192430Velocardiofacial syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0100851HP:0100851Abnormal emotion/affect behavior0EXOSC8 CL E G H1134017035OMIM:616081Pontocerebellar hypoplasia, type 1C4
HP:0100851HP:0100851Abnormal emotion/affect behavior0FAN1 CL E G H2290929170ORPHA:144Lynch syndrome15
HP:0100851HP:0100851Abnormal emotion/affect behavior0FAS CL E G H35511920ORPHA:117Behçet disease59
HP:0100851HP:0100851Abnormal emotion/affect behavior0FAT4 CL E G H7963323109ORPHA:314679Cerebrofacioarticular syndrome114
HP:0100851HP:0100851Abnormal emotion/affect behavior0FBP1 CL E G H22033606OMIM:229700Fructose-1,6-Bisphosphatase deficiency64
HP:0100851HP:0100851Abnormal emotion/affect behavior0FBP1 CL E G H22033606ORPHA:348Fructose-1,6-bisphosphatase deficiency64
HP:0100851HP:0100851Abnormal emotion/affect behavior0FBP2 CL E G H87893607OMIM:619864
HP:0100851HP:0100851Abnormal emotion/affect behavior0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0100851HP:0100851Abnormal emotion/affect behavior0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0100851HP:0100851Abnormal emotion/affect behavior0FDFT1 CL E G H22223629OMIM:618156SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0100851HP:0100851Abnormal emotion/affect behavior0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 2747
HP:0100851HP:0100851Abnormal emotion/affect behavior0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0100851HP:0100851Abnormal emotion/affect behavior0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0100851HP:0100851Abnormal emotion/affect behavior0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0100851HP:0100851Abnormal emotion/affect behavior0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0100851HP:0100851Abnormal emotion/affect behavior0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0100851HP:0100851Abnormal emotion/affect behavior0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0100851HP:0100851Abnormal emotion/affect behavior0FIG4 CL E G H989616873ORPHA:803Amyotrophic lateral sclerosis111
HP:0100851HP:0100851Abnormal emotion/affect behavior0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyria111
HP:0100851HP:0100851Abnormal emotion/affect behavior0FIG4 CL E G H989616873OMIM:612691Polymicrogyria, bilateral temporooccipital111
HP:0100851HP:0100851Abnormal emotion/affect behavior0FIG4 CL E G H989616873OMIM:216340Yunis-Varon syndrome111
HP:0100851HP:0100851Abnormal emotion/affect behavior0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0FMO3 CL E G H23283771ORPHA:468726Severe primary trimethylaminuria55
HP:0100851HP:0100851Abnormal emotion/affect behavior0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0100851HP:0100851Abnormal emotion/affect behavior0FMR1 CL E G H23323775ORPHA:908Fragile X syndrome30
HP:0100851HP:0100851Abnormal emotion/affect behavior0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0100851HP:0100851Abnormal emotion/affect behavior0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriers30
HP:0100851HP:0100851Abnormal emotion/affect behavior0FOCAD CL E G H5491423377OMIM:6199913
HP:0100851HP:0100851Abnormal emotion/affect behavior0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0100851HP:0100851Abnormal emotion/affect behavior0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0100851HP:0100851Abnormal emotion/affect behavior0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0100851HP:0100851Abnormal emotion/affect behavior0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0100851HP:0100851Abnormal emotion/affect behavior0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0100851HP:0100851Abnormal emotion/affect behavior0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0100851HP:0100851Abnormal emotion/affect behavior0FOXRED1 CL E G H5557226927ORPHA:255241Leigh syndrome with leukodystrophy61
HP:0100851HP:0100851Abnormal emotion/affect behavior0FOXRED1 CL E G H5557226927OMIM:618241Mitochondrial complex I deficiency, nuclear type 1961
HP:0100851HP:0100851Abnormal emotion/affect behavior0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0100851HP:0100851Abnormal emotion/affect behavior0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleep4
HP:0100851HP:0100851Abnormal emotion/affect behavior0FTL CL E G H25123999OMIM:606159Neurodegeneration with brain iron accumulation 333
HP:0100851HP:0100851Abnormal emotion/affect behavior0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0100851HP:0100851Abnormal emotion/affect behavior0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0100851HP:0100851Abnormal emotion/affect behavior0FUS CL E G H25214010ORPHA:803Amyotrophic lateral sclerosis105
HP:0100851HP:0100851Abnormal emotion/affect behavior0FUS CL E G H25214010ORPHA:275872Frontotemporal dementia with motor neuron disease105
HP:0100851HP:0100851Abnormal emotion/affect behavior0FUZ CL E G H8019926219ORPHA:1136Arnold-Chiari malformation type II3
HP:0100851HP:0100851Abnormal emotion/affect behavior0GABBR2 CL E G H95684507OMIM:617904Epileptic encephalopathy, early infantile, 595
HP:0100851HP:0100851Abnormal emotion/affect behavior0GABRA1 CL E G H25544075ORPHA:307Juvenile myoclonic epilepsy134
HP:0100851HP:0100851Abnormal emotion/affect behavior0GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndrome57
HP:0100851HP:0100851Abnormal emotion/affect behavior0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0100851HP:0100851Abnormal emotion/affect behavior0GABRD CL E G H25634084ORPHA:307Juvenile myoclonic epilepsy10
HP:0100851HP:0100851Abnormal emotion/affect behavior0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsy139
HP:0100851HP:0100851Abnormal emotion/affect behavior0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0100851HP:0100851Abnormal emotion/affect behavior0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0100851HP:0100851Abnormal emotion/affect behavior0GAMT CL E G H25934136OMIM:612736Cerebral creatine deficiency syndrome 291
HP:0100851HP:0100851Abnormal emotion/affect behavior0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiency91
HP:0100851HP:0100851Abnormal emotion/affect behavior0GAPVD1 CL E G H2613023375ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0100851HP:0100851Abnormal emotion/affect behavior0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0100851HP:0100851Abnormal emotion/affect behavior0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0100851HP:0100851Abnormal emotion/affect behavior0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0100851HP:0100851Abnormal emotion/affect behavior0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome33
HP:0100851HP:0100851Abnormal emotion/affect behavior0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal
HP:0100851HP:0100851Abnormal emotion/affect behavior0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson disease
HP:0100851HP:0100851Abnormal emotion/affect behavior0GCH1 CL E G H26434193OMIM:233910Hyperphenylalaninemia, BH4-deficient, B86
HP:0100851HP:0100851Abnormal emotion/affect behavior0GCSH CL E G H26534208OMIM:605899Glycine encephalopathy5
HP:0100851HP:0100851Abnormal emotion/affect behavior0GFAP CL E G H26704235OMIM:203450Alexander disease188
HP:0100851HP:0100851Abnormal emotion/affect behavior0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson disease8
HP:0100851HP:0100851Abnormal emotion/affect behavior0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0100851HP:0100851Abnormal emotion/affect behavior0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0100851HP:0100851Abnormal emotion/affect behavior0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0100851HP:0100851Abnormal emotion/affect behavior0GLDC CL E G H27314313OMIM:605899Glycine encephalopathy166
HP:0100851HP:0100851Abnormal emotion/affect behavior0GLE1 CL E G H27334315ORPHA:803Amyotrophic lateral sclerosis45
HP:0100851HP:0100851Abnormal emotion/affect behavior0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0100851HP:0100851Abnormal emotion/affect behavior0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0100851HP:0100851Abnormal emotion/affect behavior0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0100851HP:0100851Abnormal emotion/affect behavior0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0100851HP:0100851Abnormal emotion/affect behavior0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemia17
HP:0100851HP:0100851Abnormal emotion/affect behavior0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0100851HP:0100851Abnormal emotion/affect behavior0GLT8D1 CL E G H5583024870ORPHA:803Amyotrophic lateral sclerosis
HP:0100851HP:0100851Abnormal emotion/affect behavior0GM2A CL E G H27604367OMIM:272750Gm2-Gangliosidosis, ab variant69
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemia16
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathy36
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNAO1 CL E G H27754389OMIM:617493Neurodevelopmental disorder with involuntary movements36
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia101
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNAS CL E G H27784392ORPHA:94089Pseudohypoparathyroidism type 1B101
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0100851HP:0100851Abnormal emotion/affect behavior0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIA1 CL E G H28904571OMIM:6199313
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutations30
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathy108
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIN1 CL E G H29024584OMIM:614254Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant108
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleep434
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndrome434
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsy434
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathy5
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRM7 CL E G H29174599OMIM:618922NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA5
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementia126
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRN CL E G H28964601OMIM:607485Frontotemporal lobar degeneration with TDP43 inclusions126
HP:0100851HP:0100851Abnormal emotion/affect behavior0GRN CL E G H28964601ORPHA:100069Semantic dementia126
HP:0100851HP:0100851Abnormal emotion/affect behavior0GYS2 CL E G H29984707ORPHA:2089Glycogen storage disease due to hepatic glycogen synthase deficiency100
HP:0100851HP:0100851Abnormal emotion/affect behavior0H4C5 CL E G H83674790OMIM:619950
HP:0100851HP:0100851Abnormal emotion/affect behavior0HBB CL E G H30434827ORPHA:231214Beta-thalassemia major580
HP:0100851HP:0100851Abnormal emotion/affect behavior0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemia580
HP:0100851HP:0100851Abnormal emotion/affect behavior0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome33
HP:0100851HP:0100851Abnormal emotion/affect behavior0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 537
HP:0100851HP:0100851Abnormal emotion/affect behavior0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndrome37
HP:0100851HP:0100851Abnormal emotion/affect behavior0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome1
HP:0100851HP:0100851Abnormal emotion/affect behavior0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0100851HP:0100851Abnormal emotion/affect behavior0HEPHL1 CL E G H34120830477OMIM:261990PILI TORTI AND DEVELOPMENTAL DELAY
HP:0100851HP:0100851Abnormal emotion/affect behavior0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0100851HP:0100851Abnormal emotion/affect behavior0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0100851HP:0100851Abnormal emotion/affect behavior0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0100851HP:0100851Abnormal emotion/affect behavior0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency32
HP:0100851HP:0100851Abnormal emotion/affect behavior0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0100851HP:0100851Abnormal emotion/affect behavior0HLA-B CL E G H31064932ORPHA:117Behçet disease4
HP:0100851HP:0100851Abnormal emotion/affect behavior0HLA-DQB1 CL E G H31194944OMIM:123400Creutzfeldt-Jakob disease
HP:0100851HP:0100851Abnormal emotion/affect behavior0HLA-DQB1 CL E G H31194944OMIM:126200Multiple sclerosis, susceptibility to
HP:0100851HP:0100851Abnormal emotion/affect behavior0HLA-DRB1 CL E G H31234948OMIM:126200Multiple sclerosis, susceptibility to2
HP:0100851HP:0100851Abnormal emotion/affect behavior0HLCS CL E G H31414976OMIM:253270Holocarboxylase synthetase deficiency148
HP:0100851HP:0100851Abnormal emotion/affect behavior0HLCS CL E G H31414976ORPHA:79242Holocarboxylase synthetase deficiency148
HP:0100851HP:0100851Abnormal emotion/affect behavior0HMGCL CL E G H31555005ORPHA:203-hydroxy-3-methylglutaric aciduria35
HP:0100851HP:0100851Abnormal emotion/affect behavior0HMGCL CL E G H31555005OMIM:2464503-Hydroxy-3-Methylglutaryl-Coa lyase deficiency35
HP:0100851HP:0100851Abnormal emotion/affect behavior0HNRNPA1 CL E G H31785031ORPHA:803Amyotrophic lateral sclerosis31
HP:0100851HP:0100851Abnormal emotion/affect behavior0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0100851HP:0100851Abnormal emotion/affect behavior0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome76
HP:0100851HP:0100851Abnormal emotion/affect behavior0HSD17B10 CL E G H30284800OMIM:300438HSD10 mitochondrial disease19
HP:0100851HP:0100851Abnormal emotion/affect behavior0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0100851HP:0100851Abnormal emotion/affect behavior0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0100851HP:0100851Abnormal emotion/affect behavior0HTR2A CL E G H33565293OMIM:164230Obsessive-Compulsive disorder 14
HP:0100851HP:0100851Abnormal emotion/affect behavior0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0100851HP:0100851Abnormal emotion/affect behavior0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson disease39
HP:0100851HP:0100851Abnormal emotion/affect behavior0HTT CL E G H30644851ORPHA:399Huntington disease12
HP:0100851HP:0100851Abnormal emotion/affect behavior0HTT CL E G H30644851ORPHA:248111Juvenile Huntington disease12
HP:0100851HP:0100851Abnormal emotion/affect behavior0IBA57 CL E G H20020527302OMIM:615330Multiple mitochondrial dysfunctions syndrome 316
HP:0100851HP:0100851Abnormal emotion/affect behavior0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndrome28
HP:0100851HP:0100851Abnormal emotion/affect behavior0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0100851HP:0100851Abnormal emotion/affect behavior0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100851HP:0100851Abnormal emotion/affect behavior0IFNGR1 CL E G H34595439ORPHA:117Behçet disease60
HP:0100851HP:0100851Abnormal emotion/affect behavior0IL10 CL E G H35865962ORPHA:117Behçet disease2
HP:0100851HP:0100851Abnormal emotion/affect behavior0IL12A CL E G H35925969ORPHA:117Behçet disease
HP:0100851HP:0100851Abnormal emotion/affect behavior0IL12A-AS1 CL E G H10192837649094ORPHA:117Behçet disease
HP:0100851HP:0100851Abnormal emotion/affect behavior0IL23R CL E G H14923319100ORPHA:117Behçet disease1
HP:0100851HP:0100851Abnormal emotion/affect behavior0IMPA1 CL E G H36126050OMIM:617323Mental retardation, autosomal recessive 591
HP:0100851HP:0100851Abnormal emotion/affect behavior0INF2 CL E G H6442323791ORPHA:656Genetic steroid-resistant nephrotic syndrome135
HP:0100851HP:0100851Abnormal emotion/affect behavior0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0100851HP:0100851Abnormal emotion/affect behavior0INPP5E CL E G H5662321474ORPHA:75858MORM syndrome111
HP:0100851HP:0100851Abnormal emotion/affect behavior0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0100851HP:0100851Abnormal emotion/affect behavior0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0100851HP:0100851Abnormal emotion/affect behavior0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome119
HP:0100851HP:0100851Abnormal emotion/affect behavior0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0100851HP:0100851Abnormal emotion/affect behavior0ITPA CL E G H37046176OMIM:616647Epileptic encephalopathy, early infantile, 358
HP:0100851HP:0100851Abnormal emotion/affect behavior0JPH3 CL E G H5733814203OMIM:606438Huntington disease-like 22
HP:0100851HP:0100851Abnormal emotion/affect behavior0JRK CL E G H86296199ORPHA:307Juvenile myoclonic epilepsy
HP:0100851HP:0100851Abnormal emotion/affect behavior0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0100851HP:0100851Abnormal emotion/affect behavior0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0100851HP:0100851Abnormal emotion/affect behavior0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0100851HP:0100851Abnormal emotion/affect behavior0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathy145
HP:0100851HP:0100851Abnormal emotion/affect behavior0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0100851HP:0100851Abnormal emotion/affect behavior0KCNQ3 CL E G H37866297ORPHA:307Juvenile myoclonic epilepsy302
HP:0100851HP:0100851Abnormal emotion/affect behavior0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy321
HP:0100851HP:0100851Abnormal emotion/affect behavior0KCNT1 CL E G H5758218865OMIM:615005Epilepsy, nocturnal frontal lobe, 5321
HP:0100851HP:0100851Abnormal emotion/affect behavior0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0100851HP:0100851Abnormal emotion/affect behavior0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0100851HP:0100851Abnormal emotion/affect behavior0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0100851HP:0100851Abnormal emotion/affect behavior0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0100851HP:0100851Abnormal emotion/affect behavior0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0100851HP:0100851Abnormal emotion/affect behavior0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0100851HP:0100851Abnormal emotion/affect behavior0KIF15 CL E G H5699217273ORPHA:26132321q22.11q22.12 microdeletion syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0KIF5C CL E G H38006325OMIM:615282CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM218
HP:0100851HP:0100851Abnormal emotion/affect behavior0KLRC4 CL E G H83026377ORPHA:117Behçet disease
HP:0100851HP:0100851Abnormal emotion/affect behavior0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0100851HP:0100851Abnormal emotion/affect behavior0KMT2A CL E G H42977132OMIM:605130Wiedemann-Steiner syndrome91
HP:0100851HP:0100851Abnormal emotion/affect behavior0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0100851HP:0100851Abnormal emotion/affect behavior0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutation99
HP:0100851HP:0100851Abnormal emotion/affect behavior0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome1
HP:0100851HP:0100851Abnormal emotion/affect behavior0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0100851HP:0100851Abnormal emotion/affect behavior0KNL1 CL E G H5708224054OMIM:604321Microcephaly 4, primary, autosomal recessive112
HP:0100851HP:0100851Abnormal emotion/affect behavior0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0100851HP:0100851Abnormal emotion/affect behavior0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0100851HP:0100851Abnormal emotion/affect behavior0KRAS CL E G H38456407ORPHA:144Lynch syndrome196
HP:0100851HP:0100851Abnormal emotion/affect behavior0LARP7 CL E G H5157424912ORPHA:319671Alazami syndrome16
HP:0100851HP:0100851Abnormal emotion/affect behavior0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndrome8
HP:0100851HP:0100851Abnormal emotion/affect behavior0LAS1L CL E G H8188725726OMIM:309585WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS8
HP:0100851HP:0100851Abnormal emotion/affect behavior0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency46
HP:0100851HP:0100851Abnormal emotion/affect behavior0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0100851HP:0100851Abnormal emotion/affect behavior0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64
HP:0100851HP:0100851Abnormal emotion/affect behavior0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 2725
HP:0100851HP:0100851Abnormal emotion/affect behavior0LIPT1 CL E G H5160129569ORPHA:255241Leigh syndrome with leukodystrophy21
HP:0100851HP:0100851Abnormal emotion/affect behavior0LMAN2L CL E G H8156219263OMIM:616887Mental retardation, autosomal recessive 521
HP:0100851HP:0100851Abnormal emotion/affect behavior0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson disease221
HP:0100851HP:0100851Abnormal emotion/affect behavior0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson disease221
HP:0100851HP:0100851Abnormal emotion/affect behavior0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0LSM11 CL E G H13435330860OMIM:619486AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0100851HP:0100851Abnormal emotion/affect behavior0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAB21L1 CL E G H40816757OMIM:618479Cerebellar, ocular, craniofacial, and genital syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0100851HP:0100851Abnormal emotion/affect behavior0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndrome63
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAGI2 CL E G H986318957ORPHA:656Genetic steroid-resistant nephrotic syndrome59
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0100851HP:0100851Abnormal emotion/affect behavior0MANBA CL E G H41266831OMIM:248510MANNOSIDOSIS, BETA A, LYSOSOMAL55
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndrome61
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementia140
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAPT CL E G H41376893OMIM:600274Frontotemporal dementia140
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAPT CL E G H41376893OMIM:172700Pick disease of brain140
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAPT CL E G H41376893ORPHA:240085Progressive supranuclear palsy-parkinsonism syndrome140
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAPT CL E G H41376893ORPHA:240112Progressive supranuclear palsy-progressive non-fluent aphasia syndrome140
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAPT CL E G H41376893ORPHA:100069Semantic dementia140
HP:0100851HP:0100851Abnormal emotion/affect behavior0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1140
HP:0100851HP:0100851Abnormal emotion/affect behavior0MATR3 CL E G H97826912ORPHA:803Amyotrophic lateral sclerosis80
HP:0100851HP:0100851Abnormal emotion/affect behavior0MBD5 CL E G H5577720444ORPHA:2284022q23.1 microdeletion syndrome252
HP:0100851HP:0100851Abnormal emotion/affect behavior0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0100851HP:0100851Abnormal emotion/affect behavior0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0100851HP:0100851Abnormal emotion/affect behavior0MECP2 CL E G H42046990ORPHA:3077X-linked intellectual disability-psychosis-macroorchidism syndrome950
HP:0100851HP:0100851Abnormal emotion/affect behavior0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0100851HP:0100851Abnormal emotion/affect behavior0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0100851HP:0100851Abnormal emotion/affect behavior0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0100851HP:0100851Abnormal emotion/affect behavior0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiency74
HP:0100851HP:0100851Abnormal emotion/affect behavior0MED23 CL E G H94392372OMIM:614249Mental retardation, autosomal recessive 1825
HP:0100851HP:0100851Abnormal emotion/affect behavior0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0100851HP:0100851Abnormal emotion/affect behavior0MEFV CL E G H42106998ORPHA:117Behçet disease281
HP:0100851HP:0100851Abnormal emotion/affect behavior0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0100851HP:0100851Abnormal emotion/affect behavior0MGAT2 CL E G H42477045OMIM:212066Congenital disorder of glycosylation, type IIa39
HP:0100851HP:0100851Abnormal emotion/affect behavior0MIR17HG CL E G H40797523564ORPHA:391646Feingold syndrome type 21
HP:0100851HP:0100851Abnormal emotion/affect behavior0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0100851HP:0100851Abnormal emotion/affect behavior0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0MLH1 CL E G H42927127ORPHA:144Lynch syndrome1819
HP:0100851HP:0100851Abnormal emotion/affect behavior0MLH3 CL E G H270307128ORPHA:144Lynch syndrome131
HP:0100851HP:0100851Abnormal emotion/affect behavior0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0MOCS2 CL E G H43387193OMIM:252160Molybdenum cofactor deficiency, complementation group B26
HP:0100851HP:0100851Abnormal emotion/affect behavior0MSH2 CL E G H44367325ORPHA:144Lynch syndrome2162
HP:0100851HP:0100851Abnormal emotion/affect behavior0MSH6 CL E G H29567329ORPHA:144Lynch syndrome2232
HP:0100851HP:0100851Abnormal emotion/affect behavior0MTFMT CL E G H12326329666ORPHA:255241Leigh syndrome with leukodystrophy29
HP:0100851HP:0100851Abnormal emotion/affect behavior0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome19
HP:0100851HP:0100851Abnormal emotion/affect behavior0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive19
HP:0100851HP:0100851Abnormal emotion/affect behavior0MYO1E CL E G H46437599ORPHA:656Genetic steroid-resistant nephrotic syndrome3
HP:0100851HP:0100851Abnormal emotion/affect behavior0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0100851HP:0100851Abnormal emotion/affect behavior0NAA10 CL E G H826018704ORPHA:568Microphthalmia, Lenz type23
HP:0100851HP:0100851Abnormal emotion/affect behavior0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0100851HP:0100851Abnormal emotion/affect behavior0NAA10 CL E G H826018704OMIM:300855Ogden syndrome23
HP:0100851HP:0100851Abnormal emotion/affect behavior0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0100851HP:0100851Abnormal emotion/affect behavior0NACC1 CL E G H11293920967OMIM:617393Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination1
HP:0100851HP:0100851Abnormal emotion/affect behavior0NACC1 CL E G H11293920967ORPHA:500545Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract1
HP:0100851HP:0100851Abnormal emotion/affect behavior0NAGLU CL E G H46697632OMIM:252920Mucopolysaccharidosis type IIIB72
HP:0100851HP:0100851Abnormal emotion/affect behavior0NAGS CL E G H16241717996ORPHA:927Hyperammonemia due to N-acetylglutamate synthase deficiency36
HP:0100851HP:0100851Abnormal emotion/affect behavior0NAGS CL E G H16241717996OMIM:237310N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY36
HP:0100851HP:0100851Abnormal emotion/affect behavior0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndrome48
HP:0100851HP:0100851Abnormal emotion/affect behavior0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY1
HP:0100851HP:0100851Abnormal emotion/affect behavior0NAXD CL E G H5573925576OMIM:618321Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0100851HP:0100851Abnormal emotion/affect behavior0NAXE CL E G H12824018453OMIM:617186Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 19
HP:0100851HP:0100851Abnormal emotion/affect behavior0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDP CL E G H46937678OMIM:310600Norrie disease39
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFA10 CL E G H47057684ORPHA:255241Leigh syndrome with leukodystrophy91
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFA12 CL E G H5596723987ORPHA:255241Leigh syndrome with leukodystrophy7
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFA13 CL E G H5107917194ORPHA:255241Leigh syndrome with leukodystrophy3
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFA2 CL E G H46957685ORPHA:255241Leigh syndrome with leukodystrophy19
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFA4 CL E G H46977687ORPHA:255241Leigh syndrome with leukodystrophy4
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFA6 CL E G H47007690OMIM:618253Mitochondrial complex I deficiency, nuclear type 331
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFA9 CL E G H47047693ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFAF2 CL E G H9194228086ORPHA:255241Leigh syndrome with leukodystrophy26
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 1550
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFAF5 CL E G H7913315899ORPHA:255241Leigh syndrome with leukodystrophy34
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFAF6 CL E G H13768228625ORPHA:255241Leigh syndrome with leukodystrophy39
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFS1 CL E G H47197707ORPHA:255241Leigh syndrome with leukodystrophy81
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFS1 CL E G H47197707OMIM:618226Mitochondrial complex I deficiency, nuclear type 581
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFS2 CL E G H47207708ORPHA:255241Leigh syndrome with leukodystrophy65
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFS3 CL E G H47227710ORPHA:255241Leigh syndrome with leukodystrophy22
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFS4 CL E G H47247711ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFS7 CL E G H3742917714ORPHA:255241Leigh syndrome with leukodystrophy38
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFS8 CL E G H47287715ORPHA:255241Leigh syndrome with leukodystrophy42
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFV1 CL E G H47237716ORPHA:255241Leigh syndrome with leukodystrophy74
HP:0100851HP:0100851Abnormal emotion/affect behavior0NDUFV2 CL E G H47297717ORPHA:255241Leigh syndrome with leukodystrophy27
HP:0100851HP:0100851Abnormal emotion/affect behavior0NEFH CL E G H47447737ORPHA:803Amyotrophic lateral sclerosis24
HP:0100851HP:0100851Abnormal emotion/affect behavior0NEK1 CL E G H47507744ORPHA:803Amyotrophic lateral sclerosis101
HP:0100851HP:0100851Abnormal emotion/affect behavior0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathy
HP:0100851HP:0100851Abnormal emotion/affect behavior0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0100851HP:0100851Abnormal emotion/affect behavior0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional52
HP:0100851HP:0100851Abnormal emotion/affect behavior0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0100851HP:0100851Abnormal emotion/affect behavior0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0100851HP:0100851Abnormal emotion/affect behavior0NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual development1
HP:0100851HP:0100851Abnormal emotion/affect behavior0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndrome40
HP:0100851HP:0100851Abnormal emotion/affect behavior0NHLRC1 CL E G H37888421576ORPHA:501Lafora disease77
HP:0100851HP:0100851Abnormal emotion/affect behavior0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0100851HP:0100851Abnormal emotion/affect behavior0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndrome117
HP:0100851HP:0100851Abnormal emotion/affect behavior0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndrome1
HP:0100851HP:0100851Abnormal emotion/affect behavior0NIPBL CL E G H2583628862OMIM:122470Cornelia de Lange syndrome 1494
HP:0100851HP:0100851Abnormal emotion/affect behavior0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0100851HP:0100851Abnormal emotion/affect behavior0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0100851HP:0100851Abnormal emotion/affect behavior0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0100851HP:0100851Abnormal emotion/affect behavior0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0100851HP:0100851Abnormal emotion/affect behavior0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0100851HP:0100851Abnormal emotion/affect behavior0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0100851HP:0100851Abnormal emotion/affect behavior0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0100851HP:0100851Abnormal emotion/affect behavior0NOTCH3 CL E G H48547883OMIM:125310Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy144
HP:0100851HP:0100851Abnormal emotion/affect behavior0NOTCH3 CL E G H48547883ORPHA:136Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy144
HP:0100851HP:0100851Abnormal emotion/affect behavior0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0100851HP:0100851Abnormal emotion/affect behavior0NPHS1 CL E G H48687908ORPHA:656Genetic steroid-resistant nephrotic syndrome241
HP:0100851HP:0100851Abnormal emotion/affect behavior0NPHS2 CL E G H782713394ORPHA:656Genetic steroid-resistant nephrotic syndrome69
HP:0100851HP:0100851Abnormal emotion/affect behavior0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0100851HP:0100851Abnormal emotion/affect behavior0NRCAM CL E G H48977994OMIM:6198332
HP:0100851HP:0100851Abnormal emotion/affect behavior0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0100851HP:0100851Abnormal emotion/affect behavior0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0100851HP:0100851Abnormal emotion/affect behavior0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0100851HP:0100851Abnormal emotion/affect behavior0NSDHL CL E G H5081413398ORPHA:251383CK syndrome34
HP:0100851HP:0100851Abnormal emotion/affect behavior0NSDHL CL E G H5081413398OMIM:300831Ck syndrome34
HP:0100851HP:0100851Abnormal emotion/affect behavior0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0100851HP:0100851Abnormal emotion/affect behavior0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0100851HP:0100851Abnormal emotion/affect behavior0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis97
HP:0100851HP:0100851Abnormal emotion/affect behavior0NUP107 CL E G H5712229914ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0100851HP:0100851Abnormal emotion/affect behavior0NUP133 CL E G H5574618016ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0100851HP:0100851Abnormal emotion/affect behavior0NUP160 CL E G H2327918017ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0NUP205 CL E G H2316518658ORPHA:656Genetic steroid-resistant nephrotic syndrome1
HP:0100851HP:0100851Abnormal emotion/affect behavior0NUP37 CL E G H7902329929ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0NUP85 CL E G H799028734ORPHA:656Genetic steroid-resistant nephrotic syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0NUP93 CL E G H968828958ORPHA:656Genetic steroid-resistant nephrotic syndrome5
HP:0100851HP:0100851Abnormal emotion/affect behavior0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletion121
HP:0100851HP:0100851Abnormal emotion/affect behavior0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0100851HP:0100851Abnormal emotion/affect behavior0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0100851HP:0100851Abnormal emotion/affect behavior0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0100851HP:0100851Abnormal emotion/affect behavior0OCRL CL E G H49528108OMIM:309000Lowe syndrome88
HP:0100851HP:0100851Abnormal emotion/affect behavior0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0100851HP:0100851Abnormal emotion/affect behavior0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0100851HP:0100851Abnormal emotion/affect behavior0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0100851HP:0100851Abnormal emotion/affect behavior0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0100851HP:0100851Abnormal emotion/affect behavior0OPTN CL E G H1013317142ORPHA:803Amyotrophic lateral sclerosis62
HP:0100851HP:0100851Abnormal emotion/affect behavior0OSTM1 CL E G H2896221652OMIM:259720Osteopetrosis, autosomal recessive 573
HP:0100851HP:0100851Abnormal emotion/affect behavior0OTC CL E G H50098512OMIM:311250Ornithine transcarbamylase deficiency, hyperammonemia due to369
HP:0100851HP:0100851Abnormal emotion/affect behavior0PACS1 CL E G H5569030032OMIM:615009Schuurs-Hoeijmakers syndrome24
HP:0100851HP:0100851Abnormal emotion/affect behavior0PAH CL E G H50538582ORPHA:79254Classic phenylketonuria641
HP:0100851HP:0100851Abnormal emotion/affect behavior0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0100851HP:0100851Abnormal emotion/affect behavior0PANK2 CL E G H8002515894ORPHA:216873Atypical pantothenate kinase-associated neurodegeneration55
HP:0100851HP:0100851Abnormal emotion/affect behavior0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson disease23
HP:0100851HP:0100851Abnormal emotion/affect behavior0PAX2 CL E G H50768616ORPHA:656Genetic steroid-resistant nephrotic syndrome39
HP:0100851HP:0100851Abnormal emotion/affect behavior0PCBD1 CL E G H50928646ORPHA:1578Pterin-4 alpha-carbinolamine dehydratase deficiency24
HP:0100851HP:0100851Abnormal emotion/affect behavior0PCDH19 CL E G H5752614270OMIM:300088Epileptic encephalopathy, early infantile, 9225
HP:0100851HP:0100851Abnormal emotion/affect behavior0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disability225
HP:0100851HP:0100851Abnormal emotion/affect behavior0PDCD1 CL E G H51338760OMIM:126200Multiple sclerosis, susceptibility to1
HP:0100851HP:0100851Abnormal emotion/affect behavior0PDCD6IP CL E G H100158766OMIM:620047
HP:0100851HP:0100851Abnormal emotion/affect behavior0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 213
HP:0100851HP:0100851Abnormal emotion/affect behavior0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical disease13
HP:0100851HP:0100851Abnormal emotion/affect behavior0PDE2A CL E G H51388777OMIM:619150INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0100851HP:0100851Abnormal emotion/affect behavior0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical disease75
HP:0100851HP:0100851Abnormal emotion/affect behavior0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 59
HP:0100851HP:0100851Abnormal emotion/affect behavior0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0100851HP:0100851Abnormal emotion/affect behavior0PDHA1 CL E G H51608806ORPHA:255241Leigh syndrome with leukodystrophy88
HP:0100851HP:0100851Abnormal emotion/affect behavior0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathy
HP:0100851HP:0100851Abnormal emotion/affect behavior0PET100 CL E G H10013180140038ORPHA:255241Leigh syndrome with leukodystrophy6
HP:0100851HP:0100851Abnormal emotion/affect behavior0PFN1 CL E G H52168881ORPHA:803Amyotrophic lateral sclerosis6
HP:0100851HP:0100851Abnormal emotion/affect behavior0PGK1 CL E G H52308896OMIM:300653Phosphoglycerate kinase 1 deficiency21
HP:0100851HP:0100851Abnormal emotion/affect behavior0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form37
HP:0100851HP:0100851Abnormal emotion/affect behavior0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0100851HP:0100851Abnormal emotion/affect behavior0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0100851HP:0100851Abnormal emotion/affect behavior0PIGF CL E G H52818962OMIM:619356ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0100851HP:0100851Abnormal emotion/affect behavior0PIGH CL E G H52838964OMIM:618010Glycosylphosphatidylinositol biosynthesis defect 171
HP:0100851HP:0100851Abnormal emotion/affect behavior0PIGL CL E G H94878966OMIM:280000Zunich neuroectodermal syndrome36
HP:0100851HP:0100851Abnormal emotion/affect behavior0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathy2
HP:0100851HP:0100851Abnormal emotion/affect behavior0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathy3
HP:0100851HP:0100851Abnormal emotion/affect behavior0PIGY CL E G H8499228213OMIM:616809Hyperphosphatasia with mental retardation syndrome 62
HP:0100851HP:0100851Abnormal emotion/affect behavior0PIK3CA CL E G H52908975ORPHA:144Lynch syndrome162
HP:0100851HP:0100851Abnormal emotion/affect behavior0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0100851HP:0100851Abnormal emotion/affect behavior0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson disease55
HP:0100851HP:0100851Abnormal emotion/affect behavior0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0100851HP:0100851Abnormal emotion/affect behavior0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0100851HP:0100851Abnormal emotion/affect behavior0PLA2G6 CL E G H83989039OMIM:612953Parkinson disease 14, autosomal recessive133
HP:0100851HP:0100851Abnormal emotion/affect behavior0PLCE1 CL E G H5119617175ORPHA:656Genetic steroid-resistant nephrotic syndrome118
HP:0100851HP:0100851Abnormal emotion/affect behavior0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0100851HP:0100851Abnormal emotion/affect behavior0PLP1 CL E G H53549086OMIM:312080Pelizaeus-Merzbacher disease60
HP:0100851HP:0100851Abnormal emotion/affect behavior0PLPBP CL E G H112129457OMIM:617290Epilepsy, early-onset, vitamin b6-dependent6
HP:0100851HP:0100851Abnormal emotion/affect behavior0PLPBP CL E G H112129457ORPHA:3006Pyridoxine-dependent epilepsy6
HP:0100851HP:0100851Abnormal emotion/affect behavior0PMS1 CL E G H53789121ORPHA:144Lynch syndrome56
HP:0100851HP:0100851Abnormal emotion/affect behavior0PMS2 CL E G H53959122ORPHA:144Lynch syndrome1121
HP:0100851HP:0100851Abnormal emotion/affect behavior0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathy244
HP:0100851HP:0100851Abnormal emotion/affect behavior0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson disease6
HP:0100851HP:0100851Abnormal emotion/affect behavior0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0100851HP:0100851Abnormal emotion/affect behavior0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndrome35
HP:0100851HP:0100851Abnormal emotion/affect behavior0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0100851HP:0100851Abnormal emotion/affect behavior0POLG CL E G H54289179OMIM:607459Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis464
HP:0100851HP:0100851Abnormal emotion/affect behavior0PON1 CL E G H54449204ORPHA:803Amyotrophic lateral sclerosis4
HP:0100851HP:0100851Abnormal emotion/affect behavior0PON2 CL E G H54459205ORPHA:803Amyotrophic lateral sclerosis2
HP:0100851HP:0100851Abnormal emotion/affect behavior0PON3 CL E G H54469206ORPHA:803Amyotrophic lateral sclerosis1
HP:0100851HP:0100851Abnormal emotion/affect behavior0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disability
HP:0100851HP:0100851Abnormal emotion/affect behavior0PPARGC1A CL E G H108919237ORPHA:803Amyotrophic lateral sclerosis1
HP:0100851HP:0100851Abnormal emotion/affect behavior0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0100851HP:0100851Abnormal emotion/affect behavior0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1172
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRF1 CL E G H55519360OMIM:603553Hemophagocytic lymphohistiocytosis, familial, 258
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 42
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical disease2
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRKAR1A CL E G H55739388ORPHA:1501Adrenocortical carcinoma134
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1134
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical disease134
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filaments2
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson disease138
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRNP CL E G H56219449OMIM:123400Creutzfeldt-Jakob disease69
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRNP CL E G H56219449ORPHA:280397Familial Alzheimer-like prion disease69
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease69
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRNP CL E G H56219449OMIM:603218Huntington disease-like 169
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob disease69
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I13
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRPH CL E G H56309461ORPHA:803Amyotrophic lateral sclerosis25
HP:0100851HP:0100851Abnormal emotion/affect behavior0PRRT2 CL E G H11247630500ORPHA:98811Paroxysmal exertion-induced dyskinesia94
HP:0100851HP:0100851Abnormal emotion/affect behavior0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0100851HP:0100851Abnormal emotion/affect behavior0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0100851HP:0100851Abnormal emotion/affect behavior0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0100851HP:0100851Abnormal emotion/affect behavior0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0100851HP:0100851Abnormal emotion/affect behavior0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementia241
HP:0100851HP:0100851Abnormal emotion/affect behavior0PSEN1 CL E G H56639508OMIM:600274Frontotemporal dementia241
HP:0100851HP:0100851Abnormal emotion/affect behavior0PSEN1 CL E G H56639508OMIM:172700Pick disease of brain