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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Short attention span (HP:0000736)help
Term ID: 736
Name: Short attention span
Synonym: Easily distracted; Poor attention span; Problem paying attention; Short attention span
Definition: Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder.
Comments:
Reference: HP:0000736
Genes and Diseases:
 
       Child Nodes:
........expandAttention deficit hyperactivity disorder (HP:0007018) help

 Sister Nodes: 
..expandAbnormal consumption behavior (HP:0040202) help
..expandAbnormal emotion/affect behavior (HP:0100851) 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
..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:0000736HP:0000736Short attention span0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000736HP:0000736Short attention span0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040282 - Frequent15
HP:0000736HP:0000736Short attention span0AASS CL E G H1015717366OMIM:238700Hyperlysinemia, type I.15
HP:0000736HP:0000736Short attention span0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0000736HP:0000736Short attention span0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0000736HP:0000736Short attention span0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000736HP:0000736Short attention span0ADGRL1 CL E G H2285920973OMIM:620065
HP:0000736HP:0000736Short attention span0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0000736HP:0000736Short attention span0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0000736HP:0000736Short attention span0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000736HP:0000736Short attention span0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0000736HP:0000736Short attention span0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0000736HP:0000736Short attention span0ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71
HP:0000736HP:0000736Short attention span0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0000736HP:0000736Short attention span0ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000736HP:0000736Short attention span0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000736HP:0000736Short attention span0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsy
HP:0000736HP:0000736Short attention span0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathy7
HP:0000736HP:0000736Short attention span0APC2 CL E G H1029724036ORPHA:821Sotos syndrome1
HP:0000736HP:0000736Short attention span0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000736HP:0000736Short attention span0ARPC4 CL E G H10093707OMIM:620141
HP:0000736HP:0000736Short attention span0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent253
HP:0000736HP:0000736Short attention span0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent253
HP:0000736HP:0000736Short attention span0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000736HP:0000736Short attention span0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000736HP:0000736Short attention span0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive512
HP:0000736HP:0000736Short attention span0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional4
HP:0000736HP:0000736Short attention span0ATP13A2 CL E G H2340030213ORPHA:306674Kufor-Rakeb syndromeHP:0040282 - Frequent100
HP:0000736HP:0000736Short attention span0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0000736HP:0000736Short attention span0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathy239
HP:0000736HP:0000736Short attention span0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathy150
HP:0000736HP:0000736Short attention span0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0000736HP:0000736Short attention span0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000736HP:0000736Short attention span0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I.49
HP:0000736HP:0000736Short attention span0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiency61
HP:0000736HP:0000736Short attention span0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000736HP:0000736Short attention span0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0000736HP:0000736Short attention span0BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndrome5
HP:0000736HP:0000736Short attention span0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type X385
HP:0000736HP:0000736Short attention span0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000736HP:0000736Short attention span0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0000736HP:0000736Short attention span0CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy94
HP:0000736HP:0000736Short attention span0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathy449
HP:0000736HP:0000736Short attention span0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0000736HP:0000736Short attention span0CACNA1C CL E G H7751390OMIM:620029572
HP:0000736HP:0000736Short attention span0CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsy75
HP:0000736HP:0000736Short attention span0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathy59
HP:0000736HP:0000736Short attention span0CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000736HP:0000736Short attention span0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000736HP:0000736Short attention span0CC2D1A CL E G H5486230237OMIM:608443Mental retardation, autosomal recessive 3.57
HP:0000736HP:0000736Short attention span0CDC42BPB CL E G H95781738OMIM:619841
HP:0000736HP:0000736Short attention span0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000736HP:0000736Short attention span0CDH2 CL E G H10001759OMIM:619957
HP:0000736HP:0000736Short attention span0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000736HP:0000736Short attention span0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000736HP:0000736Short attention span0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000736HP:0000736Short attention span0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0000736HP:0000736Short attention span0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0000736HP:0000736Short attention span0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutation114
HP:0000736HP:0000736Short attention span0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0000736HP:0000736Short attention span0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0000736HP:0000736Short attention span0CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephaly200
HP:0000736HP:0000736Short attention span0CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephaly200
HP:0000736HP:0000736Short attention span0CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephaly200
HP:0000736HP:0000736Short attention span0CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephaly200
HP:0000736HP:0000736Short attention span0CDON CL E G H5093717104ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent200
HP:0000736HP:0000736Short attention span0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000736HP:0000736Short attention span0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsy227
HP:0000736HP:0000736Short attention span0CHD5 CL E G H2603816816OMIM:619873
HP:0000736HP:0000736Short attention span0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000736HP:0000736Short attention span0CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy188
HP:0000736HP:0000736Short attention span0CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy225
HP:0000736HP:0000736Short attention span0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0000736HP:0000736Short attention span0CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy88
HP:0000736HP:0000736Short attention span0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0000736HP:0000736Short attention span0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000736HP:0000736Short attention span0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000736HP:0000736Short attention span0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0000736HP:0000736Short attention span0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathy18
HP:0000736HP:0000736Short attention span0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000736HP:0000736Short attention span0COQ5 CL E G H8427428722OMIM:619028COENZYME Q10 DEFICIENCY, PRIMARY, 9; COQ10D9
HP:0000736HP:0000736Short attention span0COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0000736HP:0000736Short attention span0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000736HP:0000736Short attention span0CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy1
HP:0000736HP:0000736Short attention span0CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndrome
HP:0000736HP:0000736Short attention span0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000736HP:0000736Short attention span0CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome12
HP:0000736HP:0000736Short attention span0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000736HP:0000736Short attention span0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0000736HP:0000736Short attention span0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000736HP:0000736Short attention span0DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000736HP:0000736Short attention span0DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000736HP:0000736Short attention span0DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndrome33
HP:0000736HP:0000736Short attention span0DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy172
HP:0000736HP:0000736Short attention span0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000736HP:0000736Short attention span0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathy47
HP:0000736HP:0000736Short attention span0DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0000736HP:0000736Short attention span0DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephaly22
HP:0000736HP:0000736Short attention span0DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephaly22
HP:0000736HP:0000736Short attention span0DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephaly22
HP:0000736HP:0000736Short attention span0DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephaly22
HP:0000736HP:0000736Short attention span0DISP1 CL E G H8497619711ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent22
HP:0000736HP:0000736Short attention span0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0000736HP:0000736Short attention span0DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephaly3
HP:0000736HP:0000736Short attention span0DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephaly3
HP:0000736HP:0000736Short attention span0DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephaly3
HP:0000736HP:0000736Short attention span0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0000736HP:0000736Short attention span0DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephaly3
HP:0000736HP:0000736Short attention span0DLL1 CL E G H285142908ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent3
HP:0000736HP:0000736Short attention span0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0000736HP:0000736Short attention span0DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0000736HP:0000736Short attention span0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0000736HP:0000736Short attention span0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0000736HP:0000736Short attention span0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathy72
HP:0000736HP:0000736Short attention span0DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome3
HP:0000736HP:0000736Short attention span0DRD4 CL E G H18153025OMIM:143465Attention deficit-hyperactivity disorder4
HP:0000736HP:0000736Short attention span0DRD5 CL E G H18163026OMIM:143465Attention deficit-hyperactivity disorder3
HP:0000736HP:0000736Short attention span0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0000736HP:0000736Short attention span0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0000736HP:0000736Short attention span0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathy60
HP:0000736HP:0000736Short attention span0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0000736HP:0000736Short attention span0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000736HP:0000736Short attention span0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000736HP:0000736Short attention span0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000736HP:0000736Short attention span0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000736HP:0000736Short attention span0EPCAM CL E G H407211529ORPHA:144Lynch syndrome170
HP:0000736HP:0000736Short attention span0FAN1 CL E G H2290929170ORPHA:144Lynch syndrome15
HP:0000736HP:0000736Short attention span0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000736HP:0000736Short attention span0FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0000736HP:0000736Short attention span0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0000736HP:0000736Short attention span0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0000736HP:0000736Short attention span0FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndrome62
HP:0000736HP:0000736Short attention span0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000736HP:0000736Short attention span0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000736HP:0000736Short attention span0FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephaly17
HP:0000736HP:0000736Short attention span0FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephaly17
HP:0000736HP:0000736Short attention span0FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephaly17
HP:0000736HP:0000736Short attention span0FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephaly17
HP:0000736HP:0000736Short attention span0FGF8 CL E G H22533686ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent17
HP:0000736HP:0000736Short attention span0FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephaly172
HP:0000736HP:0000736Short attention span0FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephaly172
HP:0000736HP:0000736Short attention span0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000736HP:0000736Short attention span0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosis63
HP:0000736HP:0000736Short attention span0FLI1 CL E G H23133749ORPHA:2308Jacobsen syndrome8
HP:0000736HP:0000736Short attention span0FLII CL E G H23143750ORPHA:819Smith-Magenis syndrome
HP:0000736HP:0000736Short attention span0FMR1 CL E G H23323775ORPHA:908Fragile X syndrome30
HP:0000736HP:0000736Short attention span0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0000736HP:0000736Short attention span0FOCAD CL E G H5491423377OMIM:6199913
HP:0000736HP:0000736Short attention span0FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephaly48
HP:0000736HP:0000736Short attention span0FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephaly48
HP:0000736HP:0000736Short attention span0FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephaly48
HP:0000736HP:0000736Short attention span0FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephaly48
HP:0000736HP:0000736Short attention span0FOXH1 CL E G H89283814ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent48
HP:0000736HP:0000736Short attention span0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000736HP:0000736Short attention span0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0000736HP:0000736Short attention span0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000736HP:0000736Short attention span0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0000736HP:0000736Short attention span0GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsy134
HP:0000736HP:0000736Short attention span0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040283 - Occasional134
HP:0000736HP:0000736Short attention span0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathy4
HP:0000736HP:0000736Short attention span0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000736HP:0000736Short attention span0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathy44
HP:0000736HP:0000736Short attention span0GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsy57
HP:0000736HP:0000736Short attention span0GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 4357
HP:0000736HP:0000736Short attention span0GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsy139
HP:0000736HP:0000736Short attention span0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040283 - Occasional139
HP:0000736HP:0000736Short attention span0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathy139
HP:0000736HP:0000736Short attention span0GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional139
HP:0000736HP:0000736Short attention span0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0000736HP:0000736Short attention span0GALT CL E G H25924135ORPHA:79239Classic galactosemia351
HP:0000736HP:0000736Short attention span0GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephaly2
HP:0000736HP:0000736Short attention span0GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephaly2
HP:0000736HP:0000736Short attention span0GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephaly2
HP:0000736HP:0000736Short attention span0GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephaly2
HP:0000736HP:0000736Short attention span0GAS1 CL E G H26194165ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent2
HP:0000736HP:0000736Short attention span0GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndrome87
HP:0000736HP:0000736Short attention span0GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephaly173
HP:0000736HP:0000736Short attention span0GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephaly173
HP:0000736HP:0000736Short attention span0GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephaly173
HP:0000736HP:0000736Short attention span0GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephaly173
HP:0000736HP:0000736Short attention span0GLI2 CL E G H27364318ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent173
HP:0000736HP:0000736Short attention span0GLRX5 CL E G H5121820134ORPHA:401866Childhood-onset spasticity with hyperglycinemiaHP:0040282 - Frequent17
HP:0000736HP:0000736Short attention span0GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndrome56
HP:0000736HP:0000736Short attention span0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndrome7
HP:0000736HP:0000736Short attention span0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000736HP:0000736Short attention span0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia7
HP:0000736HP:0000736Short attention span0GNE CL E G H1002023657ORPHA:3166Sialuria173
HP:0000736HP:0000736Short attention span0GNE CL E G H1002023657OMIM:269921SIALURIA173
HP:0000736HP:0000736Short attention span0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000736HP:0000736Short attention span0GRIA1 CL E G H28904571OMIM:6199273
HP:0000736HP:0000736Short attention span0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0000736HP:0000736Short attention span0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000736HP:0000736Short attention span0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0000736HP:0000736Short attention span0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040283 - Occasional434
HP:0000736HP:0000736Short attention span0GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional434
HP:0000736HP:0000736Short attention span0GRIN2A CL E G H29034585ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040283 - Occasional434
HP:0000736HP:0000736Short attention span0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000736HP:0000736Short attention span0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000736HP:0000736Short attention span0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000736HP:0000736Short attention span0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000736HP:0000736Short attention span0H4C5 CL E G H83674790OMIM:619950
HP:0000736HP:0000736Short attention span0HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 2454
HP:0000736HP:0000736Short attention span0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathy54
HP:0000736HP:0000736Short attention span0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0000736HP:0000736Short attention span0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0000736HP:0000736Short attention span0HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome1
HP:0000736HP:0000736Short attention span0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000736HP:0000736Short attention span0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000736HP:0000736Short attention span0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutation2
HP:0000736HP:0000736Short attention span0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000736HP:0000736Short attention span0HNRNPR CL E G H102365047OMIM:620073
HP:0000736HP:0000736Short attention span0HOXA2 CL E G H31995103ORPHA:83463Microtia21
HP:0000736HP:0000736Short attention span0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndrome345
HP:0000736HP:0000736Short attention span0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0000736HP:0000736Short attention span0IDS CL E G H34235389ORPHA:217093Mucopolysaccharidosis type 2, attenuated formHP:0040283 - Occasional86
HP:0000736HP:0000736Short attention span0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0000736HP:0000736Short attention span0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0000736HP:0000736Short attention span0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0000736HP:0000736Short attention span0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency.91
HP:0000736HP:0000736Short attention span0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutation9
HP:0000736HP:0000736Short attention span0IKBKG CL E G H85175961ORPHA:464Incontinentia pigmenti52
HP:0000736HP:0000736Short attention span0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000736HP:0000736Short attention span0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000736HP:0000736Short attention span0IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndrome119
HP:0000736HP:0000736Short attention span0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000736HP:0000736Short attention span0JRK CL E G H86296199ORPHA:64280Childhood absence epilepsy
HP:0000736HP:0000736Short attention span0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndrome283
HP:0000736HP:0000736Short attention span0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutation283
HP:0000736HP:0000736Short attention span0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000736HP:0000736Short attention span0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000736HP:0000736Short attention span0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0000736HP:0000736Short attention span0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathy65
HP:0000736HP:0000736Short attention span0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000736HP:0000736Short attention span0KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsy321
HP:0000736HP:0000736Short attention span0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000736HP:0000736Short attention span0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000736HP:0000736Short attention span0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation46
HP:0000736HP:0000736Short attention span0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive9
HP:0000736HP:0000736Short attention span0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0000736HP:0000736Short attention span0KMT2B CL E G H975715840OMIM:61993411
HP:0000736HP:0000736Short attention span0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0000736HP:0000736Short attention span0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000736HP:0000736Short attention span0KRAS CL E G H38456407ORPHA:144Lynch syndrome196
HP:0000736HP:0000736Short attention span0LGI3 CL E G H20319018711OMIM:620007
HP:0000736HP:0000736Short attention span0LHCGR CL E G H39736585ORPHA:3000Familial male-limited precocious puberty67
HP:0000736HP:0000736Short attention span0LIG4 CL E G H39816601ORPHA:235Dubowitz syndrome88
HP:0000736HP:0000736Short attention span0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0LMAN2L CL E G H8156219263OMIM:6178631
HP:0000736HP:0000736Short attention span0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0000736HP:0000736Short attention span0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000736HP:0000736Short attention span0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000736HP:0000736Short attention span0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0000736HP:0000736Short attention span0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000736HP:0000736Short attention span0MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndrome2
HP:0000736HP:0000736Short attention span0MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000736HP:0000736Short attention span0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000736HP:0000736Short attention span0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15q3
HP:0000736HP:0000736Short attention span0MED12 CL E G H996811957ORPHA:93932FG syndrome type 1228
HP:0000736HP:0000736Short attention span0MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndrome228
HP:0000736HP:0000736Short attention span0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome228
HP:0000736HP:0000736Short attention span0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000736HP:0000736Short attention span0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000736HP:0000736Short attention span0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0000736HP:0000736Short attention span0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000736HP:0000736Short attention span0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000736HP:0000736Short attention span0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040282 - Frequent57
HP:0000736HP:0000736Short attention span0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000736HP:0000736Short attention span0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000736HP:0000736Short attention span0MLH1 CL E G H42927127ORPHA:144Lynch syndrome1819
HP:0000736HP:0000736Short attention span0MLH3 CL E G H270307128ORPHA:144Lynch syndrome131
HP:0000736HP:0000736Short attention span0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000736HP:0000736Short attention span0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000736HP:0000736Short attention span0MSH2 CL E G H44367325ORPHA:144Lynch syndrome2162
HP:0000736HP:0000736Short attention span0MSH6 CL E G H29567329ORPHA:144Lynch syndrome2232
HP:0000736HP:0000736Short attention span0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0000736HP:0000736Short attention span0NAT8L CL E G H33998326742OMIM:614063N-ACETYLASPARTATE DEFICIENCY.1
HP:0000736HP:0000736Short attention span0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0000736HP:0000736Short attention span0NBN CL E G H46837652ORPHA:647Nijmegen breakage syndrome706
HP:0000736HP:0000736Short attention span0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000736HP:0000736Short attention span0ND1 CL E G H45357455ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0ND4 CL E G H45387459ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0ND5 CL E G H45407461ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0ND6 CL E G H45417462ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0000736HP:0000736Short attention span0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000736HP:0000736Short attention span0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsy52
HP:0000736HP:0000736Short attention span0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040281 - Very frequent1952
HP:0000736HP:0000736Short attention span0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0000736HP:0000736Short attention span0NFIA CL E G H47747784ORPHA:4019861p31p32 microdeletion syndrome12
HP:0000736HP:0000736Short attention span0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional117
HP:0000736HP:0000736Short attention span0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional1
HP:0000736HP:0000736Short attention span0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0000736HP:0000736Short attention span0NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000736HP:0000736Short attention span0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040284 - Very rare51
HP:0000736HP:0000736Short attention span0NLGN1 CL E G H2287114291OMIM:618830Autism, susceptibility to, 204
HP:0000736HP:0000736Short attention span0NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephaly45
HP:0000736HP:0000736Short attention span0NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephaly45
HP:0000736HP:0000736Short attention span0NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephaly45
HP:0000736HP:0000736Short attention span0NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephaly45
HP:0000736HP:0000736Short attention span0NODAL CL E G H48387865ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent45
HP:0000736HP:0000736Short attention span0NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 369
HP:0000736HP:0000736Short attention span0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000736HP:0000736Short attention span0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0000736HP:0000736Short attention span0NSD1 CL E G H6432414234ORPHA:821Sotos syndrome544
HP:0000736HP:0000736Short attention span0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000736HP:0000736Short attention span0NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndrome84
HP:0000736HP:0000736Short attention span0NTRK1 CL E G H49148031ORPHA:642Hereditary sensory and autonomic neuropathy type 4HP:0040283 - Occasional97
HP:0000736HP:0000736Short attention span0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathy8
HP:0000736HP:0000736Short attention span0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000736HP:0000736Short attention span0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0000736HP:0000736Short attention span0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of Lowe88
HP:0000736HP:0000736Short attention span0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000736HP:0000736Short attention span0ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome1
HP:0000736HP:0000736Short attention span0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndrome55
HP:0000736HP:0000736Short attention span0PAH CL E G H50538582ORPHA:79254Classic phenylketonuria641
HP:0000736HP:0000736Short attention span0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0000736HP:0000736Short attention span0PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegeneration55
HP:0000736HP:0000736Short attention span0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0000736HP:0000736Short attention span0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathy14
HP:0000736HP:0000736Short attention span0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040283 - Occasional225
HP:0000736HP:0000736Short attention span0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome
HP:0000736HP:0000736Short attention span0PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type II531
HP:0000736HP:0000736Short attention span0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 428
HP:0000736HP:0000736Short attention span0PDZD8 CL E G H11898726974OMIM:620021
HP:0000736HP:0000736Short attention span0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0000736HP:0000736Short attention span0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features11
HP:0000736HP:0000736Short attention span0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000736HP:0000736Short attention span0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000736HP:0000736Short attention span0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndrome77
HP:0000736HP:0000736Short attention span0PIK3CA CL E G H52908975ORPHA:144Lynch syndrome162
HP:0000736HP:0000736Short attention span0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0000736HP:0000736Short attention span0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0000736HP:0000736Short attention span0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0000736HP:0000736Short attention span0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutation3
HP:0000736HP:0000736Short attention span0PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephaly
HP:0000736HP:0000736Short attention span0PMS1 CL E G H53789121ORPHA:144Lynch syndrome56
HP:0000736HP:0000736Short attention span0PMS2 CL E G H53959122ORPHA:144Lynch syndrome1121
HP:0000736HP:0000736Short attention span0PNKP CL E G H112849154ORPHA:459033Ataxia-oculomotor apraxia type 4HP:0040283 - Occasional244
HP:0000736HP:0000736Short attention span0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0000736HP:0000736Short attention span0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000736HP:0000736Short attention span0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0000736HP:0000736Short attention span0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold22
HP:0000736HP:0000736Short attention span0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000736HP:0000736Short attention span0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000736HP:0000736Short attention span0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000736HP:0000736Short attention span0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000736HP:0000736Short attention span0PRKAR1B CL E G H55759390ORPHA:412066PRKAR1B-related neurodegenerative dementia with intermediate filamentsHP:0040282 - Frequent2
HP:0000736HP:0000736Short attention span0PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 1483
HP:0000736HP:0000736Short attention span0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional138
HP:0000736HP:0000736Short attention span0PRNP CL E G H56219449ORPHA:280397Familial Alzheimer-like prion disease69
HP:0000736HP:0000736Short attention span0PRNP CL E G H56219449ORPHA:282166Inherited Creutzfeldt-Jakob diseaseHP:0040282 - Frequent69
HP:0000736HP:0000736Short attention span0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000736HP:0000736Short attention span0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040282 - Frequent81
HP:0000736HP:0000736Short attention span0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040282 - Frequent81
HP:0000736HP:0000736Short attention span0PSMB1 CL E G H56899537OMIM:6200382
HP:0000736HP:0000736Short attention span0PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephaly665
HP:0000736HP:0000736Short attention span0PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephaly665
HP:0000736HP:0000736Short attention span0PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephaly665
HP:0000736HP:0000736Short attention span0PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephaly665
HP:0000736HP:0000736Short attention span0PTCH1 CL E G H57279585ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent665
HP:0000736HP:0000736Short attention span0PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 434
HP:0000736HP:0000736Short attention span0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0000736HP:0000736Short attention span0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000736HP:0000736Short attention span0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000736HP:0000736Short attention span0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000736HP:0000736Short attention span0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0000736HP:0000736Short attention span0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0000736HP:0000736Short attention span0RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndrome150
HP:0000736HP:0000736Short attention span0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000736HP:0000736Short attention span0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndrome16
HP:0000736HP:0000736Short attention span0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0000736HP:0000736Short attention span0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type X1
HP:0000736HP:0000736Short attention span0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0000736HP:0000736Short attention span0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 702
HP:0000736HP:0000736Short attention span0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000736HP:0000736Short attention span0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0000736HP:0000736Short attention span0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variant34
HP:0000736HP:0000736Short attention span0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0000736HP:0000736Short attention span0SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0000736HP:0000736Short attention span0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040283 - Occasional1053
HP:0000736HP:0000736Short attention span0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsy1053
HP:0000736HP:0000736Short attention span0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040283 - Occasional126
HP:0000736HP:0000736Short attention span0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040283 - Occasional427
HP:0000736HP:0000736Short attention span0SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 470
HP:0000736HP:0000736Short attention span0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathy70
HP:0000736HP:0000736Short attention span0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia357
HP:0000736HP:0000736Short attention span0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathy357
HP:0000736HP:0000736Short attention span0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040283 - Occasional318
HP:0000736HP:0000736Short attention span0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0000736HP:0000736Short attention span0SECISBP2 CL E G H7904830972ORPHA:171706Short stature-delayed bone age due to thyroid hormone metabolism deficiency3
HP:0000736HP:0000736Short attention span0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0000736HP:0000736Short attention span0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type X48
HP:0000736HP:0000736Short attention span0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000736HP:0000736Short attention span0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0000736HP:0000736Short attention span0SETD2 CL E G H2907218420ORPHA:821Sotos syndrome60
HP:0000736HP:0000736Short attention span0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency43
HP:0000736HP:0000736Short attention span0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndrome
HP:0000736HP:0000736Short attention span0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndrome
HP:0000736HP:0000736Short attention span0SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 612
HP:0000736HP:0000736Short attention span0SHH CL E G H646910848ORPHA:93925Alobar holoprosencephaly67
HP:0000736HP:0000736Short attention span0SHH CL E G H646910848ORPHA:93924Lobar holoprosencephaly67
HP:0000736HP:0000736Short attention span0SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephaly67
HP:0000736HP:0000736Short attention span0SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephaly67
HP:0000736HP:0000736Short attention span0SHH CL E G H646910848ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent67
HP:0000736HP:0000736Short attention span0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000736HP:0000736Short attention span0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000736HP:0000736Short attention span0SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiency40
HP:0000736HP:0000736Short attention span0SIN3A CL E G H2594219353ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutationHP:0040283 - Occasional9
HP:0000736HP:0000736Short attention span0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000736HP:0000736Short attention span0SIN3B CL E G H2330919354ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutationHP:0040283 - Occasional
HP:0000736HP:0000736Short attention span0SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephaly32
HP:0000736HP:0000736Short attention span0SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephaly32
HP:0000736HP:0000736Short attention span0SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000736HP:0000736Short attention span0SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephaly32
HP:0000736HP:0000736Short attention span0SIX3 CL E G H649610889ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0000736HP:0000736Short attention span0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathy73
HP:0000736HP:0000736Short attention span0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000736HP:0000736Short attention span0SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsy255
HP:0000736HP:0000736Short attention span0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsy255
HP:0000736HP:0000736Short attention span0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000736HP:0000736Short attention span0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsy29
HP:0000736HP:0000736Short attention span0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0000736HP:0000736Short attention span0SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0000736HP:0000736Short attention span0SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome58
HP:0000736HP:0000736Short attention span0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000736HP:0000736Short attention span0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000736HP:0000736Short attention span0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0000736HP:0000736Short attention span0SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephaly135
HP:0000736HP:0000736Short attention span0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0000736HP:0000736Short attention span0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type B164
HP:0000736HP:0000736Short attention span0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0000736HP:0000736Short attention span0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000736HP:0000736Short attention span0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000736HP:0000736Short attention span0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional37
HP:0000736HP:0000736Short attention span0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0000736HP:0000736Short attention span0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismus.29
HP:0000736HP:0000736Short attention span0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiency11
HP:0000736HP:0000736Short attention span0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000736HP:0000736Short attention span0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000736HP:0000736Short attention span0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0000736HP:0000736Short attention span0SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7171
HP:0000736HP:0000736Short attention span0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0000736HP:0000736Short attention span0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0000736HP:0000736Short attention span0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000736HP:0000736Short attention span0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000736HP:0000736Short attention span0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0000736HP:0000736Short attention span0SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional50
HP:0000736HP:0000736Short attention span0SRPX2 CL E G H2728630668ORPHA:163721Rolandic epilepsy-speech dyspraxia syndromeHP:0040283 - Occasional50
HP:0000736HP:0000736Short attention span0STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephaly1
HP:0000736HP:0000736Short attention span0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0000736HP:0000736Short attention span0STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephaly1
HP:0000736HP:0000736Short attention span0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000736HP:0000736Short attention span0STIL CL E G H649110879ORPHA:93925Alobar holoprosencephaly99
HP:0000736HP:0000736Short attention span0STIL CL E G H649110879ORPHA:93924Lobar holoprosencephaly99
HP:0000736HP:0000736Short attention span0STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephaly99
HP:0000736HP:0000736Short attention span0STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephaly99
HP:0000736HP:0000736Short attention span0STIL CL E G H649110879ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent99
HP:0000736HP:0000736Short attention span0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosis19
HP:0000736HP:0000736Short attention span0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0000736HP:0000736Short attention span0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040283 - Occasional60
HP:0000736HP:0000736Short attention span0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040282 - Frequent1129
HP:0000736HP:0000736Short attention span0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsy108
HP:0000736HP:0000736Short attention span0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathy108
HP:0000736HP:0000736Short attention span0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathy9
HP:0000736HP:0000736Short attention span0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional9
HP:0000736HP:0000736Short attention span0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathy123
HP:0000736HP:0000736Short attention span0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000736HP:0000736Short attention span0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000736HP:0000736Short attention span0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000736HP:0000736Short attention span0TBL1X CL E G H690711585OMIM:301033Hypothyroidism, congenital, nongoitrous, 81
HP:0000736HP:0000736Short attention span0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0000736HP:0000736Short attention span0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndrome32
HP:0000736HP:0000736Short attention span0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0000736HP:0000736Short attention span0TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephaly1
HP:0000736HP:0000736Short attention span0TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephaly1
HP:0000736HP:0000736Short attention span0TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephaly1
HP:0000736HP:0000736Short attention span0TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephaly1
HP:0000736HP:0000736Short attention span0TDGF1 CL E G H699711701ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent1
HP:0000736HP:0000736Short attention span0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000736HP:0000736Short attention span0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000736HP:0000736Short attention span0TGFBR2 CL E G H704811773ORPHA:144Lynch syndrome253
HP:0000736HP:0000736Short attention span0TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephaly32
HP:0000736HP:0000736Short attention span0TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephaly32
HP:0000736HP:0000736Short attention span0TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephaly32
HP:0000736HP:0000736Short attention span0TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephaly32
HP:0000736HP:0000736Short attention span0TGIF1 CL E G H705011776ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent32
HP:0000736HP:0000736Short attention span0THRB CL E G H706811799OMIM:188570Thyroid hormone resistance, generalized, autosomal dominant161
HP:0000736HP:0000736Short attention span0THRB CL E G H706811799OMIM:274300Thyroid hormone resistance, generalized, autosomal recessive161
HP:0000736HP:0000736Short attention span0TIAM1 CL E G H707411805OMIM:6199082
HP:0000736HP:0000736Short attention span0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndrome15
HP:0000736HP:0000736Short attention span0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects4
HP:0000736HP:0000736Short attention span0TKT CL E G H708611834ORPHA:488618Transketolase deficiency4
HP:0000736HP:0000736Short attention span0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 571
HP:0000736HP:0000736Short attention span0TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome6
HP:0000736HP:0000736Short attention span0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000736HP:0000736Short attention span0TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 542
HP:0000736HP:0000736Short attention span0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000736HP:0000736Short attention span0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000736HP:0000736Short attention span0TPH2 CL E G H12127820692OMIM:613003ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 731
HP:0000736HP:0000736Short attention span0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000736HP:0000736Short attention span0TRAPPC14 CL E G H5526225604OMIM:618351Microcephaly 25, primary, autosomal recessive
HP:0000736HP:0000736Short attention span0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000736HP:0000736Short attention span0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000736HP:0000736Short attention span0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome8
HP:0000736HP:0000736Short attention span0TRNF CL E G H45587481ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0TRNH CL E G H45647487ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0TRNQ CL E G H45727495ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0TRNW CL E G H45787501ORPHA:550MELASHP:0040282 - Frequent
HP:0000736HP:0000736Short attention span0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0000736HP:0000736Short attention span0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0000736HP:0000736Short attention span0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0000736HP:0000736Short attention span0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0000736HP:0000736Short attention span0TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiency9
HP:0000736HP:0000736Short attention span0TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0000736HP:0000736Short attention span0TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutation39
HP:0000736HP:0000736Short attention span0TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0000736HP:0000736Short attention span0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0000736HP:0000736Short attention span0TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0000736HP:0000736Short attention span0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional14
HP:0000736HP:0000736Short attention span0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0000736HP:0000736Short attention span0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0000736HP:0000736Short attention span0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040283 - Occasional278
HP:0000736HP:0000736Short attention span0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0000736HP:0000736Short attention span0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0000736HP:0000736Short attention span0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional21
HP:0000736HP:0000736Short attention span0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0000736HP:0000736Short attention span0UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndrome33
HP:0000736HP:0000736Short attention span0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndrome2
HP:0000736HP:0000736Short attention span0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040283 - Occasional130
HP:0000736HP:0000736Short attention span0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0000736HP:0000736Short attention span0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000736HP:0000736Short attention span0WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome20
HP:0000736HP:0000736Short attention span0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion20
HP:0000736HP:0000736Short attention span0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation20
HP:0000736HP:0000736Short attention span0WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000736HP:0000736Short attention span0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathy149
HP:0000736HP:0000736Short attention span0YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56
HP:0000736HP:0000736Short attention span0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000736HP:0000736Short attention span0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000736HP:0000736Short attention span0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0000736HP:0000736Short attention span0ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndrome10
HP:0000736HP:0000736Short attention span0ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephaly34
HP:0000736HP:0000736Short attention span0ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephaly34
HP:0000736HP:0000736Short attention span0ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephaly34
HP:0000736HP:0000736Short attention span0ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephaly34
HP:0000736HP:0000736Short attention span0ZIC2 CL E G H754612873ORPHA:280195Septopreoptic holoprosencephalyHP:0040282 - Frequent34
HP:0000736HP:0000736Short attention span0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000736HP:0000736Short attention span0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000736HP:0000736Short attention span0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000736HP:0007018Attention deficit hyperactivity disorder1AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ADGRL1 CL E G H2285920973OMIM:620065
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040282 - Frequent47
HP:0000736HP:0007018Attention deficit hyperactivity disorder1AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ALKBH8 CL E G H9180125189OMIM:618504Intellectual developmental disorder, autosomal recessive 71.
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ANKRD11 CL E G H2912321316OMIM:148050Kbg syndrome102
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0000736HP:0007018Attention deficit hyperactivity disorder1APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 625
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ARPC4 CL E G H10093707OMIM:620141
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ATP6V0A1 CL E G H535865OMIM:6199711
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040283 - Occasional61
HP:0000736HP:0007018Attention deficit hyperactivity disorder1BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000736HP:0007018Attention deficit hyperactivity disorder1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0000736HP:0007018Attention deficit hyperactivity disorder1BCR CL E G H6131014ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional5
HP:0000736HP:0007018Attention deficit hyperactivity disorder1BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent385
HP:0000736HP:0007018Attention deficit hyperactivity disorder1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CABP4 CL E G H570101386ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare94
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CACNA1C CL E G H7751390OMIM:620029572
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CACNA1H CL E G H89121395ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent75
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CAMTA1 CL E G H2326118806OMIM:614756Cerebellar ataxia, nonprogressive, with mental retardation34
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDC42BPB CL E G H95781738OMIM:619841
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDH2 CL E G H10001759OMIM:619957
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional114
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDON CL E G H5093717104ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent200
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDON CL E G H5093717104ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent200
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDON CL E G H5093717104ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent200
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CDON CL E G H5093717104ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent200
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent227
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CHD5 CL E G H2603816816OMIM:619873
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CHRNA2 CL E G H11351956ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare188
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CHRNA4 CL E G H11371958ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare225
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CHRNB2 CL E G H11411962ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare88
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 45.39
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 56.1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0000736HP:0007018Attention deficit hyperactivity disorder1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent6
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 2.19
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CRH CL E G H13922355ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CRKL CL E G H13992363ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CSNK2A1 CL E G H14572457OMIM:617062Okur-Chung neurodevelopmental syndrome.12
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DCDC2 CL E G H5147318141ORPHA:84081Senior-Boichis syndrome8
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DDB1 CL E G H16422717OMIM:619426WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DEAF1 CL E G H1052214677ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent33
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DEPDC5 CL E G H968118423ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare172
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DISP1 CL E G H8497619711ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent22
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DISP1 CL E G H8497619711ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent22
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DISP1 CL E G H8497619711ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent22
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DISP1 CL E G H8497619711ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent22
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DLL1 CL E G H285142908ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DLL1 CL E G H285142908ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DLL1 CL E G H285142908ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DLL1 CL E G H285142908ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DNAJC12 CL E G H5652128908OMIM:617384Hyperphenylalaninemia, MILD, non-bh4-deficient3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DPH1 CL E G H18013003ORPHA:459061Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndromeHP:0040283 - Occasional3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DRD4 CL E G H18153025OMIM:143465Attention deficit-hyperactivity disorder.4
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DRD5 CL E G H18163026OMIM:143465Attention deficit-hyperactivity disorder.3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0000736HP:0007018Attention deficit hyperactivity disorder1EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0000736HP:0007018Attention deficit hyperactivity disorder1EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0000736HP:0007018Attention deficit hyperactivity disorder1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000736HP:0007018Attention deficit hyperactivity disorder1EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040282 - Frequent170
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040282 - Frequent15
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FANCL CL E G H5512020748OMIM:614083Fanconi anemia, complementation group L53
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGD1 CL E G H22453663ORPHA:915Aarskog-Scott syndromeHP:0040283 - Occasional62
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGF8 CL E G H22533686ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent17
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGF8 CL E G H22533686ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent17
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGF8 CL E G H22533686ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent17
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGF8 CL E G H22533686ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent17
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGFR1 CL E G H22603688ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent172
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGFR1 CL E G H22603688ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent172
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosisHP:0040282 - Frequent63
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FLI1 CL E G H23133749ORPHA:2308Jacobsen syndromeHP:0040282 - Frequent8
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FLII CL E G H23143750ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040282 - Frequent30
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FOXH1 CL E G H89283814ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent48
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FOXH1 CL E G H89283814ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent48
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FOXH1 CL E G H89283814ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent48
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FOXH1 CL E G H89283814ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent48
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040283 - Occasional184
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0000736HP:0007018Attention deficit hyperactivity disorder1FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GABRA1 CL E G H25544075ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent134
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GABRB3 CL E G H25624083ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent57
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GABRB3 CL E G H25624083OMIM:617113Epileptic encephalopathy, early infantile, 4357
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GABRG2 CL E G H25664087ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent139
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GABRG2 CL E G H25664087ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional139
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040283 - Occasional160
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GAS1 CL E G H26194165ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GAS1 CL E G H26194165ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GAS1 CL E G H26194165ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GAS1 CL E G H26194165ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GATA4 CL E G H26264173ORPHA:2510718p23.1 microdeletion syndromeHP:0040282 - Frequent87
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GLI2 CL E G H27364318ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent173
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GLI2 CL E G H27364318ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent173
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GLI2 CL E G H27364318ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent173
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GLI2 CL E G H27364318ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent173
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GLUD1 CL E G H27464335ORPHA:35878Hyperinsulinism-hyperammonemia syndromeHP:0040282 - Frequent56
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040282 - Frequent7
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia.7
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GNE CL E G H1002023657OMIM:269921SIALURIA.173
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent8
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GRIA1 CL E G H28904571OMIM:6199273
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040282 - Frequent434
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GRIN2A CL E G H29034585ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional434
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1H4C5 CL E G H83674790OMIM:619950
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 2454
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent37
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HDC CL E G H30674855OMIM:137580Gilles de la tourette syndrome.1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HNRNPR CL E G H102365047OMIM:620073
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HOXA2 CL E G H31995103ORPHA:83463MicrotiaHP:0040283 - Occasional21
HP:0000736HP:0007018Attention deficit hyperactivity disorder1HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040283 - Occasional345
HP:0000736HP:0007018Attention deficit hyperactivity disorder1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional23
HP:0000736HP:0007018Attention deficit hyperactivity disorder1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0000736HP:0007018Attention deficit hyperactivity disorder1IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040281 - Very frequent91
HP:0000736HP:0007018Attention deficit hyperactivity disorder1IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional9
HP:0000736HP:0007018Attention deficit hyperactivity disorder1IKBKG CL E G H85175961ORPHA:464Incontinentia pigmentiHP:0040282 - Frequent52
HP:0000736HP:0007018Attention deficit hyperactivity disorder1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000736HP:0007018Attention deficit hyperactivity disorder1IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0000736HP:0007018Attention deficit hyperactivity disorder1IQSEC2 CL E G H2309629059ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent119
HP:0000736HP:0007018Attention deficit hyperactivity disorder1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1JRK CL E G H86296199ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KCNT1 CL E G H5758218865ORPHA:98784Autosomal dominant nocturnal frontal lobe epilepsyHP:0040284 - Very rare321
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KMT2B CL E G H975715840OMIM:61993411
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 512
HP:0000736HP:0007018Attention deficit hyperactivity disorder1KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040282 - Frequent196
HP:0000736HP:0007018Attention deficit hyperactivity disorder1LGI3 CL E G H20319018711OMIM:620007
HP:0000736HP:0007018Attention deficit hyperactivity disorder1LHCGR CL E G H39736585ORPHA:3000Familial male-limited precocious pubertyHP:0040283 - Occasional67
HP:0000736HP:0007018Attention deficit hyperactivity disorder1LIG4 CL E G H39816601ORPHA:235Dubowitz syndromeHP:0040282 - Frequent88
HP:0000736HP:0007018Attention deficit hyperactivity disorder1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1LMAN2L CL E G H8156219263OMIM:6178631
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MAPK1 CL E G H55946871ORPHA:261330Distal 22q11.2 microdeletion syndromeHP:0040283 - Occasional2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MAPK1 CL E G H55946871OMIM:619087NOONAN SYNDROME 13; NS132
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MED12 CL E G H996811957ORPHA:93932FG syndrome type 1HP:0040283 - Occasional228
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MED12 CL E G H996811957ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent228
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000736HP:0007018Attention deficit hyperactivity disorder1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040282 - Frequent1819
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040282 - Frequent131
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040282 - Frequent2162
HP:0000736HP:0007018Attention deficit hyperactivity disorder1MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040282 - Frequent2232
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NBN CL E G H46837652ORPHA:647Nijmegen breakage syndromeHP:0040281 - Very frequent706
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent52
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040282 - Frequent1952
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NFIA CL E G H47747784ORPHA:4019861p31p32 microdeletion syndrome12
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent117
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent494
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NKAP CL E G H7957629873OMIM:301039INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NLGN1 CL E G H2287114291OMIM:618830Autism, susceptibility to, 20.4
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NODAL CL E G H48387865ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent45
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NODAL CL E G H48387865ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent45
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NODAL CL E G H48387865ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent45
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NODAL CL E G H48387865ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent45
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NOP56 CL E G H1052815911ORPHA:276198Spinocerebellar ataxia type 36HP:0040284 - Very rare9
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NSUN2 CL E G H5488825994ORPHA:235Dubowitz syndromeHP:0040282 - Frequent84
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0000736HP:0007018Attention deficit hyperactivity disorder1NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040282 - Frequent88
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ODC1 CL E G H49538109ORPHA:544488Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndromeHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040283 - Occasional55
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040282 - Frequent641
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PANK2 CL E G H8002515894ORPHA:216866Classic pantothenate kinase-associated neurodegenerationHP:0040282 - Frequent55
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PCNT CL E G H511616068ORPHA:2637Microcephalic osteodysplastic primordial dwarfism type IIHP:0040283 - Occasional531
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 428
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PDZD8 CL E G H11898726974OMIM:620021
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040282 - Frequent77
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040282 - Frequent162
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040283 - Occasional3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PLCH1 CL E G H2300729185ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040282 - Frequent56
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040282 - Frequent1121
HP:0000736HP:0007018Attention deficit hyperactivity disorder1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PRKCG CL E G H55829402OMIM:605361Spinocerebellar ataxia 14.83
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PRNP CL E G H56219449ORPHA:280397Familial Alzheimer-like prion diseaseHP:0040281 - Very frequent69
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PSMB1 CL E G H56899537OMIM:6200382
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PTCH1 CL E G H57279585ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent665
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PTCH1 CL E G H57279585ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent665
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PTCH1 CL E G H57279585ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent665
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PTCH1 CL E G H57279585ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent665
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 4.34
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000736HP:0007018Attention deficit hyperactivity disorder1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000736HP:0007018Attention deficit hyperactivity disorder1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent25
HP:0000736HP:0007018Attention deficit hyperactivity disorder1RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0000736HP:0007018Attention deficit hyperactivity disorder1RAI1 CL E G H107439834ORPHA:819Smith-Magenis syndromeHP:0040281 - Very frequent150
HP:0000736HP:0007018Attention deficit hyperactivity disorder1RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000736HP:0007018Attention deficit hyperactivity disorder1RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000736HP:0007018Attention deficit hyperactivity disorder1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0000736HP:0007018Attention deficit hyperactivity disorder1RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 70.2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SCAPER CL E G H4985513081OMIM:618195Intellectual developmental disorder and retinitis pigmentosa
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent1053
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SCN3A CL E G H632810590OMIM:617935Epilepsy, familial focal, with variable foci 470
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxia.357
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040282 - Frequent48
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29.143
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SH3KBP1 CL E G H3001113867OMIM:300310Immunodeficiency 61.2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SHH CL E G H646910848ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent67
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SHH CL E G H646910848ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent67
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SHH CL E G H646910848ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent67
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SHH CL E G H646910848ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent67
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiencyHP:0040282 - Frequent40
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome.9
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SIX3 CL E G H649610889ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SIX3 CL E G H649610889ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SIX3 CL E G H649610889ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SIX3 CL E G H649610889ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SLC2A1 CL E G H651311005ORPHA:64280Childhood absence epilepsyHP:0040282 - Frequent255
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent255
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent29
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SLC7A6OS CL E G H8413825807OMIM:619191EPILEPSY, PROGRESSIVE MYOCLONIC, 12; EPM12
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SLITRK1 CL E G H11479820297OMIM:137580Gilles de la tourette syndrome.58
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent135
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SMC1A CL E G H824311111ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent135
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040282 - Frequent91
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040284 - Very rare164
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040283 - Occasional11
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SPG7 CL E G H668711237ORPHA:99013Spastic paraplegia type 7HP:0040282 - Frequent171
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SRPX2 CL E G H2728630668ORPHA:1945Rolandic epilepsyHP:0040283 - Occasional50
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STAG2 CL E G H1073511355ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalitiesHP:0040284 - Very rare1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STAG2 CL E G H1073511355ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STIL CL E G H649110879ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent99
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STIL CL E G H649110879ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent99
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STIL CL E G H649110879ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent99
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STIL CL E G H649110879ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent99
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosisHP:0040282 - Frequent19
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040282 - Frequent19
HP:0000736HP:0007018Attention deficit hyperactivity disorder1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent108
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0000736HP:0007018Attention deficit hyperactivity disorder1SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TBL1X CL E G H690711585OMIM:301033Hypothyroidism, congenital, nongoitrous, 8.1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040283 - Occasional32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TDGF1 CL E G H699711701ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TDGF1 CL E G H699711701ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TDGF1 CL E G H699711701ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TDGF1 CL E G H699711701ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040282 - Frequent253
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TGIF1 CL E G H705011776ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TGIF1 CL E G H705011776ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TGIF1 CL E G H705011776ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TGIF1 CL E G H705011776ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent32
HP:0000736HP:0007018Attention deficit hyperactivity disorder1THRB CL E G H706811799OMIM:188570Thyroid hormone resistance, generalized, autosomal dominant.161
HP:0000736HP:0007018Attention deficit hyperactivity disorder1THRB CL E G H706811799OMIM:274300Thyroid hormone resistance, generalized, autosomal recessive161
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TIAM1 CL E G H707411805OMIM:6199082
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040284 - Very rare15
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defectsHP:0040283 - Occasional4
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040282 - Frequent4
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TMCO1 CL E G H5449918188OMIM:213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndromeHP:0040283 - Occasional6
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TMEM67 CL E G H9114728396ORPHA:84081Senior-Boichis syndrome166
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TNIK CL E G H2304330765OMIM:617028Mental retardation, autosomal recessive 542
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TPH2 CL E G H12127820692OMIM:613003ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 731
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TRAPPC14 CL E G H5526225604OMIM:618351Microcephaly 25, primary, autosomal recessive.
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 44.8
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional1090
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040283 - Occasional2738
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TSHB CL E G H725212372ORPHA:90674Isolated thyroid-stimulating hormone deficiencyHP:0040283 - Occasional9
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TUBA1A CL E G H784620766ORPHA:467166Tubulinopathy-associated dysgyria106
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TUBB2B CL E G H34773330829ORPHA:300573Polymicrogyria due to TUBB2B mutationHP:0040283 - Occasional39
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TUBB2B CL E G H34773330829ORPHA:467166Tubulinopathy-associated dysgyria39
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TUBB3 CL E G H1038120772ORPHA:467166Tubulinopathy-associated dysgyria64
HP:0000736HP:0007018Attention deficit hyperactivity disorder1TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent14
HP:0000736HP:0007018Attention deficit hyperactivity disorder1UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000736HP:0007018Attention deficit hyperactivity disorder1UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040281 - Very frequent278
HP:0000736HP:0007018Attention deficit hyperactivity disorder1UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0000736HP:0007018Attention deficit hyperactivity disorder1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1UPF3B CL E G H6510920439ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent33
HP:0000736HP:0007018Attention deficit hyperactivity disorder1USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000736HP:0007018Attention deficit hyperactivity disorder1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000736HP:0007018Attention deficit hyperactivity disorder1WAC CL E G H5132217327OMIM:616708Desanto-Shinawi syndrome.20
HP:0000736HP:0007018Attention deficit hyperactivity disorder1WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040281 - Very frequent20
HP:0000736HP:0007018Attention deficit hyperactivity disorder1WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040282 - Frequent20
HP:0000736HP:0007018Attention deficit hyperactivity disorder1WBP11 CL E G H5172916461OMIM:619227VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0000736HP:0007018Attention deficit hyperactivity disorder1WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0000736HP:0007018Attention deficit hyperactivity disorder1YWHAG CL E G H753212852OMIM:617665Epileptic encephalopathy, early infantile, 56.
HP:0000736HP:0007018Attention deficit hyperactivity disorder1YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000736HP:0007018Attention deficit hyperactivity disorder1YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000736HP:0007018Attention deficit hyperactivity disorder1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ZDHHC9 CL E G H5111418475ORPHA:776Lujan-Fryns syndromeHP:0040282 - Frequent10
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ZIC2 CL E G H754612873ORPHA:93925Alobar holoprosencephalyHP:0040282 - Frequent34
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ZIC2 CL E G H754612873ORPHA:93924Lobar holoprosencephalyHP:0040282 - Frequent34
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ZIC2 CL E G H754612873ORPHA:93926Midline interhemispheric variant of holoprosencephalyHP:0040282 - Frequent34
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ZIC2 CL E G H754612873ORPHA:220386Semilobar holoprosencephalyHP:0040282 - Frequent34
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000736HP:0007018Attention deficit hyperactivity disorder1ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643


Genes (431) :AARS1 AASS ABCD1 ACTL6B ADGRL1 ADH5 ADNP AGO2 AHCY ALDH4A1 ALKBH8 ANAPC1 ANKRD11 ANKRD17 AP2M1 AP3B2 APC2 ARID2 ARPC4 ARSA ARV1 ARVCF ASPM ATP10A ATP13A2 ATP1A2 ATP1A3 ATP6V0A1 ATP6V1A AUH AUTS2 BAP1 BAZ1B BCL7B BCORL1 BCR BMPR1A BRD4 BUD23 C12ORF4 CABP4 CACNA1A CACNA1B CACNA1C CACNA1H CACNA2D1 CAMTA1 CARS1 CC2D1A CDC42BPB CDH11 CDH2 CDK19 CDK8 CDKN1A CDKN1B CDKN1C CDKN2B CDKN2C CDON CELF2 CHD2 CHD5 CHD7 CHRNA2 CHRNA4 CHRNA7 CHRNB2 CIC CLIP2 CLTC CNKSR2 COMT COQ5 COX1 COX2 COX3 CRBN CREBBP CRH CRKL CSGALNACT1 CSNK2A1 CYFIP2 CYP27A1 DALRD3 DCDC2 DDB1 DEAF1 DEPDC5 DHCR7 DHDDS DHTKD1 DISP1 DLG3 DLL1 DMPK DNAJC12 DNAJC21 DNAJC30 DNAJC6 DNM1 DPH1 DRD4 DRD5 DYNC1I2 DYRK1A EEF1A2 EFL1 EIF2AK1 EIF4H ELN EP300 EPCAM FAN1 FANCD2 FANCL FBXO11 FGD1 FGF12 FGF13 FGF8 FGFR1 FGFR3 FKBP6 FLG FLI1 FLII FMR1 FOCAD FOXH1 FOXP1 FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRG2 GALC GALT GAS1 GATA4 GLI2 GLRX5 GLUD1 GNAQ GNB1 GNB5 GNE GP1BB GRIA1 GRIA4 GRIK2 GRIN2A GRIN2D GTF2I GTF2IRD1 GTF2IRD2 H4C5 HCN1 HDAC4 HDAC8 HDC HERC2 HIRA HMGA2 HNRNPH2 HNRNPR HOXA2 HSPG2 HTRA2 IDS IFNG IGF1 IGF2 IKBKG IPW IQSEC1 IQSEC2 JMJD1C JRK KANSL1 KAT5 KAT8 KCNA2 KCNB1 KCNN2 KCNT1 KDM3B KDM4B KIF11 KIF14 KMT2A KMT2B KMT5B KRAS LGI3 LHCGR LIG4 LIMK1 LMAN2L LRRK2 MADD MAGEL2 MAN2B1 MAP1B MAPK1 MBD5 MCTP2 MED12 MED12L MED13 MEN1 METTL27 METTL5 MID1 MKRN3 MKRN3-AS1 MLH1 MLH3 MLXIPL MSH2 MSH6 NAA15 NAT8L NBEA NBN NCF1 ND1 ND4 ND5 ND6 NDP NECAP1 NEXMIF NF1 NFIA NIPA1 NIPA2 NIPBL NKAP NKX2-1 NLGN1 NODAL NOP56 NPAP1 NR2F1 NSD1 NSUN2 NTRK1 NTRK2 NUS1 OCA2 OCRL ODC1 OPHN1 PAH PAK3 PANK2 PARK7 PARS2 PCDH19 PCGF2 PCNT PDGFRB PDZD8 PHF21A PHIP PIDD1 PIEZO2 PIK3CA PINK1 PLA2G6 PLAG1 PLCH1 PMS1 PMS2 PNKP PODXL POLA1 PPM1D PPP1R12A PPP1R21 PPP3CA PRKAR1B PRKCG PRKN PRNP PRR12 PSAP PSMB1 PTCH1 PTCHD1 PURA PUS7 PWAR1 PWRN1 RAD21 RAI1 RERE RFC2 RIC1 RPS20 RREB1 RSRC1 SATB1 SATB2 SBDS SCAPER SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SEC24C SECISBP2 SEMA3E SEMA4A SETBP1 SETD1A SETD2 SETD5 SH2B1 SH3KBP1 SHH SHMT2 SHOC2 SIM1 SIN3A SIN3B SIX3 SLC13A5 SLC1A2 SLC2A1 SLC38A3 SLC6A1 SLC6A8 SLC7A6OS SLITRK1 SMARCA2 SMC1A SMC3 SMPD1 SNCA SNORD115-1 SNORD116-1 SNRPN SOBP SOX5 SOX6 SPEN SPG11 SPG7 SPRED1 SPTBN1 SRCAP SRP54 SRPX2 STAG2 STEEP1 STIL STS STX1A SUCLG1 SYNE1 SYNGAP1 SYNJ1 SZT2 TAF1 TANC2 TAOK1 TBL1X TBL2 TBX1 TDGF1 TET3 TFE3 TGFBR2 TGIF1 THRB TIAM1 TIMM8A TKT TLK2 TMCO1 TMEM270 TMEM67 TNIK TNPO2 TNRC6B TPH2 TRAK1 TRAPPC14 TRIO TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSC1 TSC2 TSHB TUBA1A TUBB2B TUBB3 TUBG1 UBA5 UBE3A UBE4A UCHL1 UFD1 UPF3B USP7 VPS13A VPS13C VPS37D WAC WBP11 WWOX YWHAG YY1 ZDHHC9 ZIC2 ZMIZ1 ZMYM2 ZNF292

Diseases (301) :ORPHA:442835 ORPHA:2203 OMIM:238700 OMIM:300100 ORPHA:139396 OMIM:620065 OMIM:619151 ORPHA:404448 OMIM:619149 ORPHA:88618 ORPHA:79101 OMIM:618504 ORPHA:221008 OMIM:148050 OMIM:619504 ORPHA:1942 ORPHA:821 OMIM:617808 OMIM:620141 ORPHA:309271 ORPHA:309263 ORPHA:567 OMIM:608716 ORPHA:411515 ORPHA:306674 OMIM:619605 OMIM:619971 OMIM:250950 ORPHA:352490 OMIM:619762 ORPHA:904 OMIM:301029 ORPHA:261330 ORPHA:440437 ORPHA:199 OMIM:618221 ORPHA:98784 OMIM:620029 ORPHA:64280 OMIM:614756 OMIM:618891 OMIM:608443 OMIM:619841 OMIM:619736 OMIM:619957 OMIM:618929 OMIM:618748 ORPHA:652 ORPHA:397590 ORPHA:93925 ORPHA:93924 ORPHA:93926 ORPHA:220386 ORPHA:280195 OMIM:619873 ORPHA:138 ORPHA:199318 OMIM:617600 OMIM:617854 OMIM:301008 OMIM:619028 ORPHA:550 OMIM:607417 OMIM:180849 OMIM:618870 OMIM:617062 ORPHA:909 ORPHA:84081 OMIM:619426 ORPHA:819 ORPHA:818 OMIM:204750 OMIM:300850 OMIM:618709 ORPHA:589821 OMIM:617384 ORPHA:811 ORPHA:2828 ORPHA:459061 OMIM:143465 OMIM:618492 ORPHA:464311 OMIM:618878 OMIM:194050 ORPHA:144 OMIM:227646 OMIM:614083 OMIM:618089 OMIM:305400 ORPHA:915 OMIM:602849 ORPHA:461 ORPHA:2308 ORPHA:908 ORPHA:449291 OMIM:619991 ORPHA:391372 OMIM:613670 ORPHA:33069 OMIM:617113 ORPHA:1945 ORPHA:206443 ORPHA:79239 ORPHA:251071 ORPHA:401866 ORPHA:35878 ORPHA:3205 OMIM:616973 OMIM:617182 ORPHA:3166 OMIM:269921 OMIM:619927 OMIM:617864 OMIM:619580 OMIM:245570 ORPHA:98818 ORPHA:163721 OMIM:619950 OMIM:615871 ORPHA:1001 OMIM:137580 OMIM:176270 OMIM:300986 OMIM:620073 ORPHA:83463 ORPHA:800 ORPHA:217093 ORPHA:805 OMIM:613254 ORPHA:73272 OMIM:608747 ORPHA:464 OMIM:618687 ORPHA:363958 ORPHA:363965 OMIM:619103 OMIM:618974 OMIM:619725 OMIM:618846 OMIM:619320 OMIM:152950 OMIM:617914 ORPHA:319182 OMIM:619934 ORPHA:589618 OMIM:617788 OMIM:620007 ORPHA:3000 ORPHA:235 OMIM:617863 OMIM:619005 ORPHA:309282 OMIM:618918 OMIM:619087 OMIM:156200 ORPHA:1596 ORPHA:93932 ORPHA:776 OMIM:305450 OMIM:618872 OMIM:618009 OMIM:618665 ORPHA:2745 OMIM:617787 OMIM:614063 OMIM:619157 ORPHA:647 ORPHA:649 ORPHA:97685 ORPHA:363700 ORPHA:401986 ORPHA:261183 OMIM:301039 ORPHA:209905 OMIM:618830 ORPHA:276198 ORPHA:401777 OMIM:117550 ORPHA:642 ORPHA:98794 ORPHA:534 OMIM:619075 ORPHA:544488 ORPHA:137831 ORPHA:79254 OMIM:300558 ORPHA:216866 OMIM:618371 ORPHA:2637 OMIM:615007 OMIM:620021 OMIM:618725 OMIM:617991 ORPHA:589905 OMIM:619827 ORPHA:2461 ORPHA:35069 OMIM:610217 ORPHA:459033 OMIM:301030 ORPHA:163976 OMIM:617450 OMIM:618820 OMIM:619383 OMIM:619680 ORPHA:412066 OMIM:605361 ORPHA:280397 ORPHA:282166 OMIM:619539 OMIM:620038 OMIM:300830 ORPHA:438216 OMIM:618342 ORPHA:1713 OMIM:616975 ORPHA:494344 OMIM:618761 OMIM:618402 OMIM:619229 ORPHA:251019 ORPHA:576283 OMIM:618195 OMIM:617935 OMIM:614306 ORPHA:171706 OMIM:616078 OMIM:619056 ORPHA:404440 ORPHA:261222 ORPHA:261197 OMIM:300310 OMIM:619121 OMIM:607721 ORPHA:369873 ORPHA:500166 OMIM:613406 OMIM:300352 OMIM:619191 OMIM:619293 OMIM:601358 ORPHA:77293 ORPHA:177907 OMIM:613671 ORPHA:313892 OMIM:618971 OMIM:619312 ORPHA:2822 ORPHA:99013 OMIM:611431 ORPHA:137605 OMIM:619475 ORPHA:2044 OMIM:301022 OMIM:301013 ORPHA:281090 ORPHA:17 ORPHA:88644 OMIM:300966 OMIM:618906 OMIM:619575 OMIM:301033 ORPHA:1727 OMIM:188400 OMIM:618798 OMIM:301066 OMIM:188570 OMIM:274300 OMIM:619908 ORPHA:52368 OMIM:617044 ORPHA:488618 OMIM:618050 OMIM:213980 OMIM:617028 OMIM:619556 OMIM:619243 OMIM:613003 OMIM:618351 OMIM:618825 OMIM:617061 ORPHA:476126 OMIM:191100 ORPHA:90674 ORPHA:467166 ORPHA:300573 ORPHA:300570 ORPHA:238446 OMIM:619639 ORPHA:500055 ORPHA:2388 OMIM:616708 ORPHA:284169 ORPHA:466950 OMIM:619227 OMIM:617665 OMIM:617557 ORPHA:506358 OMIM:618659 OMIM:619522 OMIM:619188
 

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