Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
expand
Behavioral abnormality (HP:0000708)help
..Starting node
..expand
Autistic behavior (HP:0000729)help
Term ID: 729
Name: Autistic behavior
Synonym: ASD; Autism spectrum disorder; Autism spectrum disorders; Autistic behaviors; Autistic behaviour; Autistic behaviours; Pervasive developmental disorder
Definition: Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Comments:
Reference: HP:0000729
Genes and Diseases:
 
       Child Nodes:
........expandAutism (HP:0000717) help
........expandRestrictive behavior (HP:0000723) help
........expandImpaired social interactions (HP:0000735) help
................... HP:0000728 Impaired ability to form peer relationships
................... HP:0000758 Impaired use of nonverbal behaviors
................... HP:0000817 Poor eye contact
................... HP:0002332 Lack of peer relationships
................... HP:0008763 No social interaction
........expandAutism with high cognitive abilities (HP:0000753) help
........expandAlexithymia (HP:0031433) 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
..expandDelusions (HP:0000746) help
..expandDrooling (HP:0002307) help
..expandEcholalia (HP:0010529) help
..expandHallucinations (HP:0000738) help
..expandHyperorality (HP:0000710) help
..expandImpairment in personality functioning (HP:0031466) help
..expandInflexible adherence to routines or rituals (HP:0000732) help
..expandLack of insight (HP:0000757) help
..expandLack of spontaneous play (HP:0000721) help
..expandLow frustration tolerance (HP:0000744) help
..expandMania (HP:0100754) help
..expandMutism (HP:0002300) help
..expandObsessive-compulsive behavior (HP:0000722) help
..expandobsolete Psychomotor retardation (HP:0025356) help
..expandOppositional defiant disorder (HP:0010865) help
..expandPerseveration (HP:0030223) help
..expandPersonality changes (HP:0000751) help
..expandPhotophobia (HP:0000613) help
..expandPseudobulbar behavioral symptoms (HP:0002193) help
..expandPsychosis (HP:0000709) help
..expandRestlessness (HP:0000711) help
..expandSchizophrenia (HP:0100753) help
..expandSelf-neglect (HP:0025479) help
..expandShort attention span (HP:0000736) help
..expandSleep disturbance (HP:0002360) help
..expandSound sensitivity (HP:0025112) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000729HP:0000729Autistic behavior0AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000729HP:0000729Autistic behavior0ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0000729HP:0000729Autistic behavior0ACSL4 CL E G H21823571OMIM:300387MENTAL RETARDATION, X-LINKED 63; MRX6319
HP:0000729HP:0000729Autistic behavior0ACTL6B CL E G H51412160OMIM:618470Intellectual developmental disorder with severe speech and ambulation defects2
HP:0000729HP:0000729Autistic behavior0ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000729HP:0000729Autistic behavior0ADGRL1 CL E G H2285920973OMIM:620065
HP:0000729HP:0000729Autistic behavior0ADGRV1 CL E G H8405917416ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare530
HP:0000729HP:0000729Autistic behavior0ADH5 CL E G H128253OMIM:619151AMED SYNDROME, DIGENIC; AMEDS
HP:0000729HP:0000729Autistic behavior0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040281 - Very frequent47
HP:0000729HP:0000729Autistic behavior0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0000729HP:0000729Autistic behavior0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency118
HP:0000729HP:0000729Autistic behavior0AFF2 CL E G H23343776ORPHA:100973FRAXE intellectual disabilityHP:0040282 - Frequent59
HP:0000729HP:0000729Autistic behavior0AFF3 CL E G H38996473OMIM:619297KINSSHIP SYNDROME; KINS1
HP:0000729HP:0000729Autistic behavior0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0000729HP:0000729Autistic behavior0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0000729HP:0000729Autistic behavior0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0000729HP:0000729Autistic behavior0ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiency62
HP:0000729HP:0000729Autistic behavior0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0000729HP:0000729Autistic behavior0ALDH18A1 CL E G H58329722OMIM:616603Cutis laxa, autosomal dominant 3HP:0040283 - Occasional89
HP:0000729HP:0000729Autistic behavior0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0000729HP:0000729Autistic behavior0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0000729HP:0000729Autistic behavior0ALG11 CL E G H44013832456ORPHA:280071ALG11-CDG41
HP:0000729HP:0000729Autistic behavior0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDG96
HP:0000729HP:0000729Autistic behavior0ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0000729HP:0000729Autistic behavior0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0000729HP:0000729Autistic behavior0ANK3 CL E G H288494ORPHA:356996ANK3-related intellectual disability-sleep disturbance syndromeHP:0040282 - Frequent176
HP:0000729HP:0000729Autistic behavior0ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndrome102
HP:0000729HP:0000729Autistic behavior0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0000729HP:0000729Autistic behavior0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000729HP:0000729Autistic behavior0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040282 - Frequent13
HP:0000729HP:0000729Autistic behavior0AP2M1 CL E G H1173564OMIM:618587INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES; MRD60
HP:0000729HP:0000729Autistic behavior0AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional
HP:0000729HP:0000729Autistic behavior0AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathy7
HP:0000729HP:0000729Autistic behavior0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040283 - Occasional1
HP:0000729HP:0000729Autistic behavior0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0000729HP:0000729Autistic behavior0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional88
HP:0000729HP:0000729Autistic behavior0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional219
HP:0000729HP:0000729Autistic behavior0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0000729HP:0000729Autistic behavior0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional25
HP:0000729HP:0000729Autistic behavior0ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrum
HP:0000729HP:0000729Autistic behavior0ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000729HP:0000729Autistic behavior0ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndrome1
HP:0000729HP:0000729Autistic behavior0ARX CL E G H17030218060ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0000729HP:0000729Autistic behavior0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 52.1
HP:0000729HP:0000729Autistic behavior0ASXL3 CL E G H8081629357ORPHA:352577Bainbridge-Ropers syndromeHP:0040282 - Frequent49
HP:0000729HP:0000729Autistic behavior0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000729HP:0000729Autistic behavior0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0000729HP:0000729Autistic behavior0ATP1A1 CL E G H476799ORPHA:564178Primary hypomagnesemia with refractory seizures and intellectual disabilityHP:0040282 - Frequent4
HP:0000729HP:0000729Autistic behavior0ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathy239
HP:0000729HP:0000729Autistic behavior0ATP1A3 CL E G H478801OMIM:601338Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss150
HP:0000729HP:0000729Autistic behavior0ATP1A3 CL E G H478801ORPHA:1171Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndromeHP:0040283 - Occasional150
HP:0000729HP:0000729Autistic behavior0ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathy150
HP:0000729HP:0000729Autistic behavior0ATP2B1 CL E G H490814OMIM:619910
HP:0000729HP:0000729Autistic behavior0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0000729HP:0000729Autistic behavior0ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000729HP:0000729Autistic behavior0ATP6V1B2 CL E G H526854ORPHA:79500DOORS syndromeHP:0040283 - Occasional5
HP:0000729HP:0000729Autistic behavior0ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndrome169
HP:0000729HP:0000729Autistic behavior0AUTS2 CL E G H2605314262ORPHA:352490Autism spectrum disorder due to AUTS2 deficiencyHP:0040282 - Frequent61
HP:0000729HP:0000729Autistic behavior0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 26.61
HP:0000729HP:0000729Autistic behavior0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0000729HP:0000729Autistic behavior0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0BCKDK CL E G H1029516902OMIM:614923Branched-Chain ketoacid dehydrogenase kinase deficiency28
HP:0000729HP:0000729Autistic behavior0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1HP:0040283 - Occasional101
HP:0000729HP:0000729Autistic behavior0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0000729HP:0000729Autistic behavior0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000729HP:0000729Autistic behavior0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0000729HP:0000729Autistic behavior0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0C12ORF4 CL E G H571021184OMIM:618221Mental retardation, autosomal recessive 662
HP:0000729HP:0000729Autistic behavior0C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementia56
HP:0000729HP:0000729Autistic behavior0CACNA1A CL E G H7731388ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent449
HP:0000729HP:0000729Autistic behavior0CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathy449
HP:0000729HP:0000729Autistic behavior0CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0000729HP:0000729Autistic behavior0CACNA1C CL E G H7751390OMIM:601005Timothy syndrome572
HP:0000729HP:0000729Autistic behavior0CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathy59
HP:0000729HP:0000729Autistic behavior0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000729HP:0000729Autistic behavior0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0000729HP:0000729Autistic behavior0CAPN15 CL E G H665011182OMIM:619318OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0000729HP:0000729Autistic behavior0CARS2 CL E G H7958725695ORPHA:477774Combined oxidative phosphorylation defect type 27HP:0040283 - Occasional35
HP:0000729HP:0000729Autistic behavior0CASK CL E G H85731497ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional118
HP:0000729HP:0000729Autistic behavior0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0000729HP:0000729Autistic behavior0CC2D2A CL E G H5754529253ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent247
HP:0000729HP:0000729Autistic behavior0CDC42BPB CL E G H95781738OMIM:619841
HP:0000729HP:0000729Autistic behavior0CDH11 CL E G H10091750OMIM:619736TEEBI HYPERTELORISM SYNDROME 2; TBHS22
HP:0000729HP:0000729Autistic behavior0CDH15 CL E G H10131754OMIM:612580MENTAL RETARDATION, AUTOSOMAL DOMINANT 3; MRD353
HP:0000729HP:0000729Autistic behavior0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0000729HP:0000729Autistic behavior0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000729HP:0000729Autistic behavior0CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000729HP:0000729Autistic behavior0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0000729HP:0000729Autistic behavior0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0000729HP:0000729Autistic behavior0CDKL5 CL E G H679211411ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional405
HP:0000729HP:0000729Autistic behavior0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0000729HP:0000729Autistic behavior0CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000729HP:0000729Autistic behavior0CEP290 CL E G H8018429021ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent342
HP:0000729HP:0000729Autistic behavior0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0000729HP:0000729Autistic behavior0CHD1 CL E G H11051915ORPHA:529965Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndromeHP:0040283 - Occasional2
HP:0000729HP:0000729Autistic behavior0CHD2 CL E G H11061917OMIM:615369EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET; EEOC227
HP:0000729HP:0000729Autistic behavior0CHD2 CL E G H11061917ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent227
HP:0000729HP:0000729Autistic behavior0CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional227
HP:0000729HP:0000729Autistic behavior0CHD5 CL E G H2603816816OMIM:619873
HP:0000729HP:0000729Autistic behavior0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000729HP:0000729Autistic behavior0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000729HP:0000729Autistic behavior0CHKA CL E G H11191937OMIM:620023
HP:0000729HP:0000729Autistic behavior0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0000729HP:0000729Autistic behavior0CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementia42
HP:0000729HP:0000729Autistic behavior0CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndrome52
HP:0000729HP:0000729Autistic behavior0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0000729HP:0000729Autistic behavior0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000729HP:0000729Autistic behavior0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0000729HP:0000729Autistic behavior0CLCN4 CL E G H11832022ORPHA:485350CLCN4-related X-linked intellectual disability syndromeHP:0040283 - Occasional45
HP:0000729HP:0000729Autistic behavior0CLCN4 CL E G H11832022OMIM:300114Raynaud-Claes syndrome.45
HP:0000729HP:0000729Autistic behavior0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0CLN5 CL E G H12032076ORPHA:228360CLN5 diseaseHP:0040283 - Occasional141
HP:0000729HP:0000729Autistic behavior0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040283 - Occasional111
HP:0000729HP:0000729Autistic behavior0CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000729HP:0000729Autistic behavior0CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000729HP:0000729Autistic behavior0CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathy18
HP:0000729HP:0000729Autistic behavior0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000729HP:0000729Autistic behavior0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000729HP:0000729Autistic behavior0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1518
HP:0000729HP:0000729Autistic behavior0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040283 - Occasional79
HP:0000729HP:0000729Autistic behavior0COMT CL E G H13122228ORPHA:56722q11.2 deletion syndrome6
HP:0000729HP:0000729Autistic behavior0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000729HP:0000729Autistic behavior0CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000729HP:0000729Autistic behavior0CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletion291
HP:0000729HP:0000729Autistic behavior0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutations291
HP:0000729HP:0000729Autistic behavior0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0000729HP:0000729Autistic behavior0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000729HP:0000729Autistic behavior0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0000729HP:0000729Autistic behavior0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0000729HP:0000729Autistic behavior0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0000729HP:0000729Autistic behavior0CUX2 CL E G H2331619347ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent
HP:0000729HP:0000729Autistic behavior0CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000729HP:0000729Autistic behavior0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosis114
HP:0000729HP:0000729Autistic behavior0DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000729HP:0000729Autistic behavior0DCX CL E G H16412714ORPHA:2148Lissencephaly type 1 due to doublecortin gene mutationHP:0040283 - Occasional145
HP:0000729HP:0000729Autistic behavior0DDX3X CL E G H16542745ORPHA:457260X-linked intellectual disability-hypotonia-movement disorder syndromeHP:0040282 - Frequent57
HP:0000729HP:0000729Autistic behavior0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040283 - Occasional33
HP:0000729HP:0000729Autistic behavior0DEPDC5 CL E G H968118423OMIM:604364Epilepsy, familial focal, with variable fociHP:0040283 - Occasional172
HP:0000729HP:0000729Autistic behavior0DEPDC5 CL E G H968118423ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional172
HP:0000729HP:0000729Autistic behavior0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0000729HP:0000729Autistic behavior0DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000729HP:0000729Autistic behavior0DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathy47
HP:0000729HP:0000729Autistic behavior0DLG4 CL E G H17422903OMIM:618793INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD622
HP:0000729HP:0000729Autistic behavior0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000729HP:0000729Autistic behavior0DLL1 CL E G H285142908OMIM:618709NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS3
HP:0000729HP:0000729Autistic behavior0DMPK CL E G H17602933ORPHA:589821Congenital-onset Steinert myotonic dystrophy152
HP:0000729HP:0000729Autistic behavior0DMXL2 CL E G H233122938ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0000729HP:0000729Autistic behavior0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0000729HP:0000729Autistic behavior0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson disease6
HP:0000729HP:0000729Autistic behavior0DNM1 CL E G H17592972ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent72
HP:0000729HP:0000729Autistic behavior0DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathy72
HP:0000729HP:0000729Autistic behavior0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0000729HP:0000729Autistic behavior0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0000729HP:0000729Autistic behavior0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000729HP:0000729Autistic behavior0DPYD CL E G H18063012ORPHA:2939481p21.3 microdeletion syndromeHP:0040282 - Frequent144
HP:0000729HP:0000729Autistic behavior0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0000729HP:0000729Autistic behavior0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency144
HP:0000729HP:0000729Autistic behavior0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0000729HP:0000729Autistic behavior0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0000729HP:0000729Autistic behavior0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040282 - Frequent134
HP:0000729HP:0000729Autistic behavior0DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000729HP:0000729Autistic behavior0EEF1A2 CL E G H19173192OMIM:616409Epileptic encephalopathy, early infantile, 3360
HP:0000729HP:0000729Autistic behavior0EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathy60
HP:0000729HP:0000729Autistic behavior0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0000729HP:0000729Autistic behavior0EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000729HP:0000729Autistic behavior0EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion223
HP:0000729HP:0000729Autistic behavior0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0000729HP:0000729Autistic behavior0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0EIF5A CL E G H19843300OMIM:619376FAUNDES-BANKA SYNDROME; FABAS
HP:0000729HP:0000729Autistic behavior0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0000729HP:0000729Autistic behavior0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000729HP:0000729Autistic behavior0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0000729HP:0000729Autistic behavior0EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000729HP:0000729Autistic behavior0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2HP:0040283 - Occasional250
HP:0000729HP:0000729Autistic behavior0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiency250
HP:0000729HP:0000729Autistic behavior0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0000729HP:0000729Autistic behavior0EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndrome102
HP:0000729HP:0000729Autistic behavior0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0000729HP:0000729Autistic behavior0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0000729HP:0000729Autistic behavior0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000729HP:0000729Autistic behavior0FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000729HP:0000729Autistic behavior0FGF13 CL E G H22583670OMIM:301058DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE901
HP:0000729HP:0000729Autistic behavior0FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000729HP:0000729Autistic behavior0FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrum172
HP:0000729HP:0000729Autistic behavior0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000729HP:0000729Autistic behavior0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosis63
HP:0000729HP:0000729Autistic behavior0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome30
HP:0000729HP:0000729Autistic behavior0FMR1 CL E G H23323775ORPHA:908Fragile X syndrome30
HP:0000729HP:0000729Autistic behavior0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0000729HP:0000729Autistic behavior0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000729HP:0000729Autistic behavior0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0000729HP:0000729Autistic behavior0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0000729HP:0000729Autistic behavior0FOXP2 CL E G H9398613875ORPHA:209908Childhood apraxia of speechHP:0040284 - Very rare143
HP:0000729HP:0000729Autistic behavior0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000729HP:0000729Autistic behavior0FRRS1L CL E G H237321362ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional4
HP:0000729HP:0000729Autistic behavior0FTCD CL E G H108413974ORPHA:51208Formiminoglutamic aciduria65
HP:0000729HP:0000729Autistic behavior0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0000729HP:0000729Autistic behavior0FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000729HP:0000729Autistic behavior0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0000729HP:0000729Autistic behavior0GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathy5
HP:0000729HP:0000729Autistic behavior0GABRA1 CL E G H25544075ORPHA:33069Dravet syndromeHP:0040282 - Frequent134
HP:0000729HP:0000729Autistic behavior0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0000729HP:0000729Autistic behavior0GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathy4
HP:0000729HP:0000729Autistic behavior0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0000729HP:0000729Autistic behavior0GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000729HP:0000729Autistic behavior0GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathy44
HP:0000729HP:0000729Autistic behavior0GABRB3 CL E G H25624083ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent57
HP:0000729HP:0000729Autistic behavior0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0000729HP:0000729Autistic behavior0GABRD CL E G H25634084ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare10
HP:0000729HP:0000729Autistic behavior0GABRG2 CL E G H25664087ORPHA:33069Dravet syndromeHP:0040282 - Frequent139
HP:0000729HP:0000729Autistic behavior0GABRG2 CL E G H25664087ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare139
HP:0000729HP:0000729Autistic behavior0GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathy139
HP:0000729HP:0000729Autistic behavior0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000729HP:0000729Autistic behavior0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0000729HP:0000729Autistic behavior0GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiency91
HP:0000729HP:0000729Autistic behavior0GATAD2B CL E G H5745930778ORPHA:363686Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndromeHP:0040283 - Occasional33
HP:0000729HP:0000729Autistic behavior0GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 386
HP:0000729HP:0000729Autistic behavior0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0000729HP:0000729Autistic behavior0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000729HP:0000729Autistic behavior0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000729HP:0000729Autistic behavior0GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000729HP:0000729Autistic behavior0GLYCTK CL E G H13215824247ORPHA:941D-glyceric aciduriaHP:0040283 - Occasional6
HP:0000729HP:0000729Autistic behavior0GNAI1 CL E G H27704384OMIM:619854
HP:0000729HP:0000729Autistic behavior0GNAO1 CL E G H27754389ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional36
HP:0000729HP:0000729Autistic behavior0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0000729HP:0000729Autistic behavior0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000729HP:0000729Autistic behavior0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000729HP:0000729Autistic behavior0GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndrome8
HP:0000729HP:0000729Autistic behavior0GRIA1 CL E G H28904571OMIM:6199273
HP:0000729HP:0000729Autistic behavior0GRIA2 CL E G H28914572OMIM:618917NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB1
HP:0000729HP:0000729Autistic behavior0GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0000729HP:0000729Autistic behavior0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000729HP:0000729Autistic behavior0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0000729HP:0000729Autistic behavior0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040283 - Occasional108
HP:0000729HP:0000729Autistic behavior0GRIN1 CL E G H29024584ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional108
HP:0000729HP:0000729Autistic behavior0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0000729HP:0000729Autistic behavior0GRIN2A CL E G H29034585ORPHA:725Continuous spikes and waves during sleepHP:0040283 - Occasional434
HP:0000729HP:0000729Autistic behavior0GRIN2A CL E G H29034585OMIM:245570EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD434
HP:0000729HP:0000729Autistic behavior0GRIN2A CL E G H29034585ORPHA:98818Landau-Kleffner syndromeHP:0040282 - Frequent434
HP:0000729HP:0000729Autistic behavior0GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000729HP:0000729Autistic behavior0GRM7 CL E G H29174599ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional5
HP:0000729HP:0000729Autistic behavior0GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementia126
HP:0000729HP:0000729Autistic behavior0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000729HP:0000729Autistic behavior0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000729HP:0000729Autistic behavior0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000729HP:0000729Autistic behavior0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0000729HP:0000729Autistic behavior0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000729HP:0000729Autistic behavior0H4C5 CL E G H83674790OMIM:619950
HP:0000729HP:0000729Autistic behavior0HCN1 CL E G H3489804845OMIM:615871Epileptic encephalopathy, early infantile, 2454
HP:0000729HP:0000729Autistic behavior0HCN1 CL E G H3489804845OMIM:618482Generalized epilepsy with febrile seizures plus, type 1054
HP:0000729HP:0000729Autistic behavior0HCN1 CL E G H3489804845ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare54
HP:0000729HP:0000729Autistic behavior0HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathy54
HP:0000729HP:0000729Autistic behavior0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndrome33
HP:0000729HP:0000729Autistic behavior0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0000729HP:0000729Autistic behavior0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0000729HP:0000729Autistic behavior0HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndrome16
HP:0000729HP:0000729Autistic behavior0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0000729HP:0000729Autistic behavior0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000729HP:0000729Autistic behavior0HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrum21
HP:0000729HP:0000729Autistic behavior0HEXB CL E G H30744879ORPHA:309162Sandhoff disease, juvenile form80
HP:0000729HP:0000729Autistic behavior0HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndrome3
HP:0000729HP:0000729Autistic behavior0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 43.13
HP:0000729HP:0000729Autistic behavior0HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndrome90
HP:0000729HP:0000729Autistic behavior0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000729HP:0000729Autistic behavior0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0000729HP:0000729Autistic behavior0HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson disease39
HP:0000729HP:0000729Autistic behavior0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0000729HP:0000729Autistic behavior0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0000729HP:0000729Autistic behavior0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0000729HP:0000729Autistic behavior0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000729HP:0000729Autistic behavior0IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 2142
HP:0000729HP:0000729Autistic behavior0INTS1 CL E G H2617324555OMIM:618571NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000729HP:0000729Autistic behavior0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000729Autistic behavior0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0000729HP:0000729Autistic behavior0IQSEC2 CL E G H2309629059ORPHA:217377Microduplication Xp11.22p11.23 syndrome119
HP:0000729HP:0000729Autistic behavior0IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome119
HP:0000729HP:0000729Autistic behavior0JAG2 CL E G H37146189OMIM:619566MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR271
HP:0000729HP:0000729Autistic behavior0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000729HP:0000729Autistic behavior0JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndrome2
HP:0000729HP:0000729Autistic behavior0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0000729HP:0000729Autistic behavior0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0000729HP:0000729Autistic behavior0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000729HP:0000729Autistic behavior0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000729HP:0000729Autistic behavior0KCNA1 CL E G H37366218ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional145
HP:0000729HP:0000729Autistic behavior0KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0000729HP:0000729Autistic behavior0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0000729HP:0000729Autistic behavior0KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathy65
HP:0000729HP:0000729Autistic behavior0KCNC2 CL E G H37476234OMIM:619913
HP:0000729HP:0000729Autistic behavior0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0000729HP:0000729Autistic behavior0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0000729HP:0000729Autistic behavior0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000729HP:0000729Autistic behavior0KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutation81
HP:0000729HP:0000729Autistic behavior0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000729HP:0000729Autistic behavior0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0000729HP:0000729Autistic behavior0KMT2B CL E G H975715840ORPHA:589618Dystonia 2811
HP:0000729HP:0000729Autistic behavior0KMT2C CL E G H5850813726OMIM:617768Kleefstra syndrome 299
HP:0000729HP:0000729Autistic behavior0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0000729HP:0000729Autistic behavior0KMT5B CL E G H5111124283OMIM:617788Mental retardation, autosomal dominant 51.2
HP:0000729HP:0000729Autistic behavior0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040283 - Occasional13
HP:0000729HP:0000729Autistic behavior0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0000729HP:0000729Autistic behavior0LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndrome
HP:0000729HP:0000729Autistic behavior0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64
HP:0000729HP:0000729Autistic behavior0LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson disease221
HP:0000729HP:0000729Autistic behavior0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0000729HP:0000729Autistic behavior0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0000729HP:0000729Autistic behavior0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000729HP:0000729Autistic behavior0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0000729HP:0000729Autistic behavior0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000729HP:0000729Autistic behavior0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0000729HP:0000729Autistic behavior0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0000729HP:0000729Autistic behavior0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0000729HP:0000729Autistic behavior0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0000729HP:0000729Autistic behavior0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDG93
HP:0000729HP:0000729Autistic behavior0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0000729HP:0000729Autistic behavior0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000729HP:0000729Autistic behavior0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0000729HP:0000729Autistic behavior0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0000729HP:0000729Autistic behavior0MAPK10 CL E G H56026872ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent61
HP:0000729HP:0000729Autistic behavior0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalitiesHP:0040284 - Very rare
HP:0000729HP:0000729Autistic behavior0MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementia140
HP:0000729HP:0000729Autistic behavior0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000729HP:0000729Autistic behavior0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 57HP:0040283 - Occasional5
HP:0000729HP:0000729Autistic behavior0MCTP2 CL E G H5578425636ORPHA:1596Distal monosomy 15qHP:0040282 - Frequent3
HP:0000729HP:0000729Autistic behavior0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0000729HP:0000729Autistic behavior0MECP2 CL E G H42046990OMIM:300496Autism susceptibility, X-linked 3950
HP:0000729HP:0000729Autistic behavior0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000729HP:0000729Autistic behavior0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000729HP:0000729Autistic behavior0MECP2 CL E G H42046990OMIM:312750Rett syndrome.950
HP:0000729HP:0000729Autistic behavior0MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome228
HP:0000729HP:0000729Autistic behavior0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000729HP:0000729Autistic behavior0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000729HP:0000729Autistic behavior0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0000729HP:0000729Autistic behavior0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040282 - Frequent74
HP:0000729HP:0000729Autistic behavior0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0000729HP:0000729Autistic behavior0MEF2C CL E G H42086996ORPHA:2283845q14.3 microdeletion syndromeHP:0040281 - Very frequent132
HP:0000729HP:0000729Autistic behavior0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000729HP:0000729Autistic behavior0MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndrome7
HP:0000729HP:0000729Autistic behavior0MEIS2 CL E G H42127001OMIM:600987Cleft palate, cardiac defects, and mental retardation.7
HP:0000729HP:0000729Autistic behavior0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000729HP:0000729Autistic behavior0METTL5 CL E G H2908125006OMIM:618665INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000729HP:0000729Autistic behavior0MFSD2A CL E G H8487925897OMIM:616486Microcephaly 15, primary, autosomal recessive5
HP:0000729HP:0000729Autistic behavior0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0000729HP:0000729Autistic behavior0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000729HP:0000729Autistic behavior0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000729Autistic behavior0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000729HP:0000729Autistic behavior0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0000729HP:0000729Autistic behavior0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040283 - Occasional
HP:0000729HP:0000729Autistic behavior0MTOR CL E G H24753942ORPHA:457485Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndromeHP:0040283 - Occasional68
HP:0000729HP:0000729Autistic behavior0MTSS2 CL E G H9215425094OMIM:620086
HP:0000729HP:0000729Autistic behavior0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0000729HP:0000729Autistic behavior0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 1HP:0040283 - Occasional23
HP:0000729HP:0000729Autistic behavior0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0000729HP:0000729Autistic behavior0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0000729HP:0000729Autistic behavior0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000729HP:0000729Autistic behavior0NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 147
HP:0000729HP:0000729Autistic behavior0NAGA CL E G H46687631ORPHA:79281Alpha-N-acetylgalactosaminidase deficiency type 347
HP:0000729HP:0000729Autistic behavior0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0000729HP:0000729Autistic behavior0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000729HP:0000729Autistic behavior0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0000729HP:0000729Autistic behavior0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0000729HP:0000729Autistic behavior0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0000729HP:0000729Autistic behavior0NDP CL E G H46937678ORPHA:649Norrie disease39
HP:0000729HP:0000729Autistic behavior0NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000729HP:0000729Autistic behavior0NEUROD2 CL E G H47617763ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional
HP:0000729HP:0000729Autistic behavior0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000729HP:0000729Autistic behavior0NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional52
HP:0000729HP:0000729Autistic behavior0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040281 - Very frequent52
HP:0000729HP:0000729Autistic behavior0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0000729HP:0000729Autistic behavior0NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual development1
HP:0000729HP:0000729Autistic behavior0NFIX CL E G H47847788OMIM:614753Sotos syndrome 240
HP:0000729HP:0000729Autistic behavior0NHS CL E G H48107820OMIM:302350Nance-Horan syndrome88
HP:0000729HP:0000729Autistic behavior0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional117
HP:0000729HP:0000729Autistic behavior0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional1
HP:0000729HP:0000729Autistic behavior0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0000729HP:0000729Autistic behavior0NLGN1 CL E G H2287114291OMIM:618830Autism, susceptibility to, 20.4
HP:0000729HP:0000729Autistic behavior0NLGN3 CL E G H5441314289OMIM:300494Asperger syndrome, X-linked, susceptibility to, 124
HP:0000729HP:0000729Autistic behavior0NLGN3 CL E G H5441314289OMIM:300425Autism susceptibility, X-linked 124
HP:0000729HP:0000729Autistic behavior0NLGN4X CL E G H5750214287OMIM:300497Asperger syndrome susceptibility, X-linked 257
HP:0000729HP:0000729Autistic behavior0NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 257
HP:0000729HP:0000729Autistic behavior0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0000729HP:0000729Autistic behavior0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000729HP:0000729Autistic behavior0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0000729HP:0000729Autistic behavior0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000729HP:0000729Autistic behavior0NPRL2 CL E G H1064124969ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional4
HP:0000729HP:0000729Autistic behavior0NPRL3 CL E G H813114124ORPHA:98820Familial focal epilepsy with variable fociHP:0040283 - Occasional7
HP:0000729HP:0000729Autistic behavior0NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0000729HP:0000729Autistic behavior0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040282 - Frequent37
HP:0000729HP:0000729Autistic behavior0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040283 - Occasional544
HP:0000729HP:0000729Autistic behavior0NSD2 CL E G H746812766OMIM:619695RAUCH-STEINDL SYNDROME; RAUST118
HP:0000729HP:0000729Autistic behavior0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0000729HP:0000729Autistic behavior0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000729HP:0000729Autistic behavior0NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathy8
HP:0000729HP:0000729Autistic behavior0NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay.8
HP:0000729HP:0000729Autistic behavior0NUS1 CL E G H11615021042OMIM:617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD551
HP:0000729HP:0000729Autistic behavior0NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathy1
HP:0000729HP:0000729Autistic behavior0OCA2 CL E G H49488101ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent121
HP:0000729HP:0000729Autistic behavior0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0000729HP:0000729Autistic behavior0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0000729HP:0000729Autistic behavior0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0000729HP:0000729Autistic behavior0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040282 - Frequent55
HP:0000729HP:0000729Autistic behavior0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000729HP:0000729Autistic behavior0OTUD6B CL E G H5163324281ORPHA:505237Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndromeHP:0040283 - Occasional4
HP:0000729HP:0000729Autistic behavior0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0000729HP:0000729Autistic behavior0OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrum41
HP:0000729HP:0000729Autistic behavior0PACS1 CL E G H5569030032ORPHA:329224Intellectual disability-craniofacial dysmorphism-cryptorchidism syndromeHP:0040283 - Occasional24
HP:0000729HP:0000729Autistic behavior0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000729HP:0000729Autistic behavior0PAH CL E G H50538582ORPHA:79254Classic phenylketonuria641
HP:0000729HP:0000729Autistic behavior0PAK2 CL E G H50628591OMIM:618458
HP:0000729HP:0000729Autistic behavior0PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson disease23
HP:0000729HP:0000729Autistic behavior0PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathy14
HP:0000729HP:0000729Autistic behavior0PCDH19 CL E G H5752614270ORPHA:33069Dravet syndromeHP:0040282 - Frequent225
HP:0000729HP:0000729Autistic behavior0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040283 - Occasional225
HP:0000729HP:0000729Autistic behavior0PCGF2 CL E G H770312929OMIM:618371Turnpenny-Fry syndrome.
HP:0000729HP:0000729Autistic behavior0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance113
HP:0000729HP:0000729Autistic behavior0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0000729HP:0000729Autistic behavior0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000729HP:0000729Autistic behavior0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0000729HP:0000729Autistic behavior0PDZD8 CL E G H11898726974OMIM:620021
HP:0000729HP:0000729Autistic behavior0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000729HP:0000729Autistic behavior0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000729HP:0000729Autistic behavior0PHACTR1 CL E G H22169220990OMIM:618298DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE701
HP:0000729HP:0000729Autistic behavior0PHF21A CL E G H5131724156OMIM:618725INTELLECTUAL DEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT SEIZURES; IDDBCS2
HP:0000729HP:0000729Autistic behavior0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0000729HP:0000729Autistic behavior0PIGL CL E G H94878966ORPHA:3474CHIME syndrome36
HP:0000729HP:0000729Autistic behavior0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000729HP:0000729Autistic behavior0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000729HP:0000729Autistic behavior0PIGP CL E G H512273046ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional2
HP:0000729HP:0000729Autistic behavior0PIGQ CL E G H909114135ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional3
HP:0000729HP:0000729Autistic behavior0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0000729HP:0000729Autistic behavior0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000729HP:0000729Autistic behavior0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000729HP:0000729Autistic behavior0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000729HP:0000729Autistic behavior0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0000729HP:0000729Autistic behavior0PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson disease55
HP:0000729HP:0000729Autistic behavior0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040283 - Occasional133
HP:0000729HP:0000729Autistic behavior0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A133
HP:0000729HP:0000729Autistic behavior0PLXNA1 CL E G H53619099OMIM:619955
HP:0000729HP:0000729Autistic behavior0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0000729HP:0000729Autistic behavior0PNKP CL E G H112849154ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional244
HP:0000729HP:0000729Autistic behavior0PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson disease6
HP:0000729HP:0000729Autistic behavior0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000729HP:0000729Autistic behavior0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0000729HP:0000729Autistic behavior0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome.2
HP:0000729HP:0000729Autistic behavior0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0000729HP:0000729Autistic behavior0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0000729HP:0000729Autistic behavior0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0000729HP:0000729Autistic behavior0POU3F3 CL E G H54559216OMIM:618604SNIJDERS BLOK-FISHER SYNDROME; SNIBFIS
HP:0000729HP:0000729Autistic behavior0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent
HP:0000729HP:0000729Autistic behavior0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0000729HP:0000729Autistic behavior0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0000729HP:0000729Autistic behavior0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040282 - Frequent10
HP:0000729HP:0000729Autistic behavior0PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathy2
HP:0000729HP:0000729Autistic behavior0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0000729HP:0000729Autistic behavior0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0000729HP:0000729Autistic behavior0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000729HP:0000729Autistic behavior0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0000729HP:0000729Autistic behavior0PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson disease138
HP:0000729HP:0000729Autistic behavior0PRODH CL E G H56259453OMIM:239500Hyperprolinemia, type I13
HP:0000729HP:0000729Autistic behavior0PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrum34
HP:0000729HP:0000729Autistic behavior0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000729HP:0000729Autistic behavior0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000729HP:0000729Autistic behavior0PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementia241
HP:0000729HP:0000729Autistic behavior0PSMC3 CL E G H57029549OMIM:619354DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000729HP:0000729Autistic behavior0PSMD12 CL E G H57189557OMIM:617516Stankiewicz-Isidor syndrome4
HP:0000729HP:0000729Autistic behavior0PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 434
HP:0000729HP:0000729Autistic behavior0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0000729HP:0000729Autistic behavior0PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome948
HP:0000729HP:0000729Autistic behavior0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040282 - Frequent19
HP:0000729HP:0000729Autistic behavior0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000729HP:0000729Autistic behavior0PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0000729HP:0000729Autistic behavior0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000729Autistic behavior0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000729Autistic behavior0QRICH1 CL E G H5487024713OMIM:617982VERVERI-BRADY SYNDROME; VERBRAS
HP:0000729HP:0000729Autistic behavior0RAB39B CL E G H11644216499OMIM:300271Mental retardation, X-linked 7234
HP:0000729HP:0000729Autistic behavior0RAC1 CL E G H58799801OMIM:617751Mental retardation, autosomal dominant 483
HP:0000729HP:0000729Autistic behavior0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0000729HP:0000729Autistic behavior0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0000729HP:0000729Autistic behavior0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0000729HP:0000729Autistic behavior0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0000729HP:0000729Autistic behavior0RERE CL E G H4739965OMIM:616975Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart16
HP:0000729HP:0000729Autistic behavior0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000729HP:0000729Autistic behavior0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0000729HP:0000729Autistic behavior0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0RIMS2 CL E G H969917283OMIM:618970CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE; CRSDS2
HP:0000729HP:0000729Autistic behavior0RLIM CL E G H5113213429OMIM:300978Tonne-Kalscheuer syndrome7
HP:0000729HP:0000729Autistic behavior0RNF135 CL E G H8428221158ORPHA:137634Overgrowth-macrocephaly-facial dysmorphism syndromeHP:0040283 - Occasional11
HP:0000729HP:0000729Autistic behavior0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0000729HP:0000729Autistic behavior0RPGRIP1L CL E G H2332229168OMIM:619113COACH SYNDROME 3; COACH3167
HP:0000729HP:0000729Autistic behavior0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0000729HP:0000729Autistic behavior0RPS23 CL E G H622810410OMIM:617412BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY; BTDD2
HP:0000729HP:0000729Autistic behavior0RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndrome
HP:0000729HP:0000729Autistic behavior0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0000729HP:0000729Autistic behavior0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya typeHP:0040283 - Occasional2
HP:0000729HP:0000729Autistic behavior0RSRC1 CL E G H5131924152OMIM:618402Intellectual developmental disorder, autosomal recessive 702
HP:0000729HP:0000729Autistic behavior0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0000729HP:0000729Autistic behavior0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000729HP:0000729Autistic behavior0SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndrome34
HP:0000729HP:0000729Autistic behavior0SATB2 CL E G H2331421637ORPHA:576283SATB2-associated syndrome due to a pathogenic variantHP:0040282 - Frequent34
HP:0000729HP:0000729Autistic behavior0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0000729HP:0000729Autistic behavior0SBF2 CL E G H818462135ORPHA:99956Charcot-Marie-Tooth disease type 4B2180
HP:0000729HP:0000729Autistic behavior0SCN1A CL E G H632310585ORPHA:33069Dravet syndromeHP:0040282 - Frequent1053
HP:0000729HP:0000729Autistic behavior0SCN1A CL E G H632310585ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare1053
HP:0000729HP:0000729Autistic behavior0SCN1A CL E G H632310585ORPHA:2382Lennox-Gastaut syndromeHP:0040282 - Frequent1053
HP:0000729HP:0000729Autistic behavior0SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional1053
HP:0000729HP:0000729Autistic behavior0SCN1B CL E G H632410586ORPHA:33069Dravet syndromeHP:0040282 - Frequent126
HP:0000729HP:0000729Autistic behavior0SCN1B CL E G H632410586ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional126
HP:0000729HP:0000729Autistic behavior0SCN1B CL E G H632410586ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare126
HP:0000729HP:0000729Autistic behavior0SCN2A CL E G H632610588ORPHA:33069Dravet syndromeHP:0040282 - Frequent427
HP:0000729HP:0000729Autistic behavior0SCN2A CL E G H632610588ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional427
HP:0000729HP:0000729Autistic behavior0SCN2A CL E G H632610588ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare427
HP:0000729HP:0000729Autistic behavior0SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathy70
HP:0000729HP:0000729Autistic behavior0SCN8A CL E G H633410596OMIM:614558Epileptic encephalopathy, early infantile, 13357
HP:0000729HP:0000729Autistic behavior0SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathy357
HP:0000729HP:0000729Autistic behavior0SCN9A CL E G H633510597ORPHA:33069Dravet syndromeHP:0040282 - Frequent318
HP:0000729HP:0000729Autistic behavior0SCN9A CL E G H633510597ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare318
HP:0000729HP:0000729Autistic behavior0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0000729HP:0000729Autistic behavior0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0000729HP:0000729Autistic behavior0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0000729HP:0000729Autistic behavior0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0000729HP:0000729Autistic behavior0SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndrome
HP:0000729HP:0000729Autistic behavior0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0000729HP:0000729Autistic behavior0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000729HP:0000729Autistic behavior0SETD1A CL E G H973929010OMIM:619056NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID6
HP:0000729HP:0000729Autistic behavior0SETD1B CL E G H2306729187OMIM:619000INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000729HP:0000729Autistic behavior0SETD2 CL E G H2907218420OMIM:616831Luscan-Lumish syndrome.60
HP:0000729HP:0000729Autistic behavior0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040283 - Occasional60
HP:0000729HP:0000729Autistic behavior0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040282 - Frequent43
HP:0000729HP:0000729Autistic behavior0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0000729HP:0000729Autistic behavior0SH2B1 CL E G H2597030417ORPHA:261222Distal 16p11.2 microdeletion syndromeHP:0040282 - Frequent
HP:0000729HP:0000729Autistic behavior0SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040281 - Very frequent
HP:0000729HP:0000729Autistic behavior0SH2B1 CL E G H2597030417ORPHA:329249Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
HP:0000729HP:0000729Autistic behavior0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040282 - Frequent53
HP:0000729HP:0000729Autistic behavior0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000729HP:0000729Autistic behavior0SIK1 CL E G H15009411142ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional11
HP:0000729HP:0000729Autistic behavior0SIM1 CL E G H649210882ORPHA:1718296q16 microdeletion syndromeHP:0040283 - Occasional40
HP:0000729HP:0000729Autistic behavior0SIM1 CL E G H649210882ORPHA:369873Obesity due to SIM1 deficiencyHP:0040283 - Occasional40
HP:0000729HP:0000729Autistic behavior0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0000729HP:0000729Autistic behavior0SIN3A CL E G H2594219353ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutationHP:0040282 - Frequent9
HP:0000729HP:0000729Autistic behavior0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000729HP:0000729Autistic behavior0SIN3B CL E G H2330919354ORPHA:500166SIN3A-related intellectual disability syndrome due to a point mutationHP:0040282 - Frequent
HP:0000729HP:0000729Autistic behavior0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0000729HP:0000729Autistic behavior0SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0000729HP:0000729Autistic behavior0SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathy73
HP:0000729HP:0000729Autistic behavior0SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathy3
HP:0000729HP:0000729Autistic behavior0SLC25A22 CL E G H7975119954ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional166
HP:0000729HP:0000729Autistic behavior0SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional255
HP:0000729HP:0000729Autistic behavior0SLC35A3 CL E G H2344311023OMIM:615553Arthrogryposis, mental retardation, and seizures.2
HP:0000729HP:0000729Autistic behavior0SLC35A3 CL E G H2344311023ORPHA:370943Autism spectrum disorder-epilepsy-arthrogryposis syndromeHP:0040280 - Obligate2
HP:0000729HP:0000729Autistic behavior0SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0000729HP:0000729Autistic behavior0SLC35C1 CL E G H5534320197ORPHA:99843Leukocyte adhesion deficiency type IIHP:0040282 - Frequent71
HP:0000729HP:0000729Autistic behavior0SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000729HP:0000729Autistic behavior0SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional29
HP:0000729HP:0000729Autistic behavior0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0000729HP:0000729Autistic behavior0SLC6A8 CL E G H653511055ORPHA:52503X-linked creatine transporter deficiencyHP:0040282 - Frequent122
HP:0000729HP:0000729Autistic behavior0SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndrome93
HP:0000729HP:0000729Autistic behavior0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0000729HP:0000729Autistic behavior0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0000729HP:0000729Autistic behavior0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional617
HP:0000729HP:0000729Autistic behavior0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional87
HP:0000729HP:0000729Autistic behavior0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional1
HP:0000729HP:0000729Autistic behavior0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000729HP:0000729Autistic behavior0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional47
HP:0000729HP:0000729Autistic behavior0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0000729HP:0000729Autistic behavior0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0000729HP:0000729Autistic behavior0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000729HP:0000729Autistic behavior0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0000729HP:0000729Autistic behavior0SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson disease65
HP:0000729HP:0000729Autistic behavior0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000729Autistic behavior0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000729Autistic behavior0SNRPN CL E G H663811164OMIM:209850Autism susceptibility 137
HP:0000729HP:0000729Autistic behavior0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0000729HP:0000729Autistic behavior0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0000729HP:0000729Autistic behavior0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0000729HP:0000729Autistic behavior0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0000729HP:0000729Autistic behavior0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040282 - Frequent14
HP:0000729HP:0000729Autistic behavior0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 20.14
HP:0000729HP:0000729Autistic behavior0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040282 - Frequent12
HP:0000729HP:0000729Autistic behavior0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000729HP:0000729Autistic behavior0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional14
HP:0000729HP:0000729Autistic behavior0SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrum33
HP:0000729HP:0000729Autistic behavior0SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrum24
HP:0000729HP:0000729Autistic behavior0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040283 - Occasional
HP:0000729HP:0000729Autistic behavior0SOX6 CL E G H5555316421OMIM:618971TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS1
HP:0000729HP:0000729Autistic behavior0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0000729HP:0000729Autistic behavior0SPECC1L CL E G H2338429022OMIM:145420Hypertelorism, Teebi type.6
HP:0000729HP:0000729Autistic behavior0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0000729HP:0000729Autistic behavior0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000729HP:0000729Autistic behavior0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000729HP:0000729Autistic behavior0SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementia62
HP:0000729HP:0000729Autistic behavior0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000729HP:0000729Autistic behavior0SRP54 CL E G H672911301OMIM:618752NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0000729HP:0000729Autistic behavior0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0000729HP:0000729Autistic behavior0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0000729HP:0000729Autistic behavior0STAG1 CL E G H1027411354OMIM:617635Mental retardation, autosomal dominant 479
HP:0000729HP:0000729Autistic behavior0STAG1 CL E G H1027411354ORPHA:502434STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndromeHP:0040282 - Frequent9
HP:0000729HP:0000729Autistic behavior0STAG2 CL E G H1073511355ORPHA:521258Xq25 microduplication syndromeHP:0040282 - Frequent1
HP:0000729HP:0000729Autistic behavior0STEEP1 CL E G H6393226239OMIM:301013MENTAL RETARDATION, X-LINKED 107; MRX107
HP:0000729HP:0000729Autistic behavior0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosis19
HP:0000729HP:0000729Autistic behavior0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosis19
HP:0000729HP:0000729Autistic behavior0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0STX1B CL E G H11275518539ORPHA:36387Generalized epilepsy with febrile seizures-plusHP:0040284 - Very rare9
HP:0000729HP:0000729Autistic behavior0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0000729HP:0000729Autistic behavior0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0000729HP:0000729Autistic behavior0SYN1 CL E G H685311494OMIM:300491Epilepsy, X-linked, with variable learning disabilities and behavior disorders.58
HP:0000729HP:0000729Autistic behavior0SYNGAP1 CL E G H883111497OMIM:612621Mental retardation, autosomal dominant 5.108
HP:0000729HP:0000729Autistic behavior0SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional108
HP:0000729HP:0000729Autistic behavior0SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathy108
HP:0000729HP:0000729Autistic behavior0SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040282 - Frequent108
HP:0000729HP:0000729Autistic behavior0SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathy9
HP:0000729HP:0000729Autistic behavior0SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson disease9
HP:0000729HP:0000729Autistic behavior0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040281 - Very frequent1
HP:0000729HP:0000729Autistic behavior0SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathy123
HP:0000729HP:0000729Autistic behavior0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0000729HP:0000729Autistic behavior0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040282 - Frequent21
HP:0000729HP:0000729Autistic behavior0TANC2 CL E G H2611530212OMIM:618906INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY, WITH OR WITHOUT SEIZURES; IDDALDS
HP:0000729HP:0000729Autistic behavior0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000729HP:0000729Autistic behavior0TBC1D24 CL E G H5746529203ORPHA:79500DOORS syndromeHP:0040283 - Occasional271
HP:0000729HP:0000729Autistic behavior0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040283 - Occasional
HP:0000729HP:0000729Autistic behavior0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0000729HP:0000729Autistic behavior0TBL1XR1 CL E G H7971829529OMIM:616944Mental retardation, autosomal dominant 4122
HP:0000729HP:0000729Autistic behavior0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0TBR1 CL E G H1071611590ORPHA:16172q24 microdeletion syndromeHP:0040282 - Frequent1
HP:0000729HP:0000729Autistic behavior0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay1
HP:0000729HP:0000729Autistic behavior0TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndrome32
HP:0000729HP:0000729Autistic behavior0TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndrome32
HP:0000729HP:0000729Autistic behavior0TBX2 CL E G H690911597OMIM:618223VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION.
HP:0000729HP:0000729Autistic behavior0TCF12 CL E G H693811623OMIM:615314Craniosynostosis 328
HP:0000729HP:0000729Autistic behavior0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0000729HP:0000729Autistic behavior0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0000729HP:0000729Autistic behavior0TCF4 CL E G H692511634ORPHA:2896Pitt-Hopkins syndromeHP:0040283 - Occasional241
HP:0000729HP:0000729Autistic behavior0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000729HP:0000729Autistic behavior0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000729HP:0000729Autistic behavior0THOC2 CL E G H5718719073ORPHA:457240X-linked intellectual disability-short stature-overweight syndromeHP:0040283 - Occasional5
HP:0000729HP:0000729Autistic behavior0TIAM1 CL E G H707411805OMIM:6199082
HP:0000729HP:0000729Autistic behavior0TLK2 CL E G H1101111842OMIM:618050Mental retardation, autosomal dominant 57.1
HP:0000729HP:0000729Autistic behavior0TM4SF20 CL E G H7985326230OMIM:615432SPECIFIC LANGUAGE IMPAIRMENT 5; SLI53
HP:0000729HP:0000729Autistic behavior0TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementia
HP:0000729HP:0000729Autistic behavior0TMEM138 CL E G H5152426944ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent39
HP:0000729HP:0000729Autistic behavior0TMEM216 CL E G H5125925018ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent45
HP:0000729HP:0000729Autistic behavior0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0000729HP:0000729Autistic behavior0TMEM231 CL E G H7958337234ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent33
HP:0000729HP:0000729Autistic behavior0TMEM237 CL E G H6506214432ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent82
HP:0000729HP:0000729Autistic behavior0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0TMLHE CL E G H5521718308OMIM:300872Autism, susceptibility to, X-linked 610
HP:0000729HP:0000729Autistic behavior0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0000729HP:0000729Autistic behavior0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000729HP:0000729Autistic behavior0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0000729HP:0000729Autistic behavior0TOE1 CL E G H11403415954OMIM:614969Pontocerebellar hypoplasia, type 76
HP:0000729HP:0000729Autistic behavior0TOGARAM1 CL E G H2311619959OMIM:619185JOUBERT SYNDROME 37; JBTS37
HP:0000729HP:0000729Autistic behavior0TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000729HP:0000729Autistic behavior0TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementia31
HP:0000729HP:0000729Autistic behavior0TRIM8 CL E G H8160315579ORPHA:1934Early infantile epileptic encephalopathyHP:0040283 - Occasional1
HP:0000729HP:0000729Autistic behavior0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000729HP:0000729Autistic behavior0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0000729HP:0000729Autistic behavior0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040282 - Frequent8
HP:0000729HP:0000729Autistic behavior0TRIP12 CL E G H932012306OMIM:617752Mental retardation, autosomal dominant 492
HP:0000729HP:0000729Autistic behavior0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0000729HP:0000729Autistic behavior0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0000729HP:0000729Autistic behavior0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0000729HP:0000729Autistic behavior0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0000729HP:0000729Autistic behavior0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0000729HP:0000729Autistic behavior0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000729HP:0000729Autistic behavior0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation64
HP:0000729HP:0000729Autistic behavior0TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional14
HP:0000729HP:0000729Autistic behavior0UBA2 CL E G H1005430661OMIM:619959
HP:0000729HP:0000729Autistic behavior0UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathy13
HP:0000729HP:0000729Autistic behavior0UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndrome278
HP:0000729HP:0000729Autistic behavior0UBE3A CL E G H733712496ORPHA:98794Angelman syndrome due to maternal 15q11q13 deletionHP:0040282 - Frequent278
HP:0000729HP:0000729Autistic behavior0UBE4A CL E G H935412499OMIM:619639NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY; NEDHMS1
HP:0000729HP:0000729Autistic behavior0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0000729HP:0000729Autistic behavior0UBTF CL E G H734312511ORPHA:500180Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorderHP:0040283 - Occasional1
HP:0000729HP:0000729Autistic behavior0UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson disease21
HP:0000729HP:0000729Autistic behavior0UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndrome
HP:0000729HP:0000729Autistic behavior0UPF3B CL E G H6510920439OMIM:300676MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS1433
HP:0000729HP:0000729Autistic behavior0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0000729HP:0000729Autistic behavior0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000729HP:0000729Autistic behavior0USP7 CL E G H787412630OMIM:616863Chromosome 16p13.2 deletion syndrome2
HP:0000729HP:0000729Autistic behavior0USP9X CL E G H823912632OMIM:300919MENTAL RETARDATION, X-LINKED 99; MRX9927
HP:0000729HP:0000729Autistic behavior0VAMP2 CL E G H684412643OMIM:618760NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS; NEDHAHM
HP:0000729HP:0000729Autistic behavior0VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementia63
HP:0000729HP:0000729Autistic behavior0VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson disease8
HP:0000729HP:0000729Autistic behavior0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000729HP:0000729Autistic behavior0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0000729HP:0000729Autistic behavior0WAC CL E G H5132217327ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutationHP:0040283 - Occasional20
HP:0000729HP:0000729Autistic behavior0WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0000729HP:0000729Autistic behavior0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0000729HP:0000729Autistic behavior0WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndromeHP:0040281 - Very frequent389
HP:0000729HP:0000729Autistic behavior0WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathy149
HP:0000729HP:0000729Autistic behavior0YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathy
HP:0000729HP:0000729Autistic behavior0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000729HP:0000729Autistic behavior0YY1 CL E G H752812856OMIM:617557Gabriele-De vries syndrome7
HP:0000729HP:0000729Autistic behavior0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000729HP:0000729Autistic behavior0ZBTB7A CL E G H5134118078OMIM:619769MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0000729HP:0000729Autistic behavior0ZFPM2 CL E G H2341416700OMIM:61606746,xy sex reversal 9HP:0040283 - Occasional31
HP:0000729HP:0000729Autistic behavior0ZIC1 CL E G H754512872OMIM:618736STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS5
HP:0000729HP:0000729Autistic behavior0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0000729HP:0000729Autistic behavior0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000729HP:0000729Autistic behavior0ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0000729HP:0000729Autistic behavior0ZNF292 CL E G H2303618410OMIM:619188INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD643
HP:0000729HP:0000729Autistic behavior0ZNF423 CL E G H2309016762ORPHA:2318Joubert syndrome with oculorenal defectHP:0040282 - Frequent49
HP:0000729HP:0000729Autistic behavior0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4
HP:0000729HP:0000729Autistic behavior0ZNF711 CL E G H755213128OMIM:300803MENTAL RETARDATION, X-LINKED 97; MRX9734
HP:0000729HP:0000729Autistic behavior0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0000729HP:0031433Alexithymia1 CL E G H
HP:0000729HP:0000753Autism with high cognitive abilities1 CL E G H
HP:0000729HP:0000717Autism1AARS1 CL E G H1620ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000729HP:0000735Impaired social interactions1ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency120
HP:0000729HP:0000717Autism1ACTL6B CL E G H51412160ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000729HP:0000735Impaired social interactions1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040281 - Very frequent47
HP:0000729HP:0000717Autism1ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000729HP:0000717Autism1AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0000729HP:0000717Autism1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0000729HP:0000717Autism1ALAD CL E G H210395ORPHA:100924Porphyria due to ALA dehydratase deficiencyHP:0040283 - Occasional62
HP:0000729HP:0000717Autism1ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency.108
HP:0000729HP:0000735Impaired social interactions1ALG11 CL E G H44013832456ORPHA:280071ALG11-CDGHP:0040281 - Very frequent41
HP:0000729HP:0000717Autism1ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040283 - Occasional96
HP:0000729HP:0000717Autism1ALG14 CL E G H19985728287OMIM:619031INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF12
HP:0000729HP:0000717Autism1ANKRD11 CL E G H2912321316ORPHA:26125016q24.3 microdeletion syndromeHP:0040281 - Very frequent102
HP:0000729HP:0000735Impaired social interactions1AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional
HP:0000729HP:0000717Autism1AP3B2 CL E G H8120567ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional7
HP:0000729HP:0000717Autism1ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0000729HP:0000717Autism1ARNT2 CL E G H991516876ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional
HP:0000729HP:0000717Autism1ARV1 CL E G H6480129561ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000729HP:0000717Autism1ARVCF CL E G H421728ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional1
HP:0000729HP:0000717Autism1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000729HP:0000717Autism1ATP1A2 CL E G H477800ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional239
HP:0000729HP:0000717Autism1ATP1A3 CL E G H478801ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional150
HP:0000729HP:0000717Autism1ATP6V1A CL E G H523851ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000729HP:0000717Autism1ATRX CL E G H546886ORPHA:847Alpha-thalassemia-X-linked intellectual disability syndromeHP:0040282 - Frequent169
HP:0000729HP:0000717Autism1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000717Autism1BCKDK CL E G H1029516902OMIM:614923Branched-Chain ketoacid dehydrogenase kinase deficiencyHP:0040280 - Obligate28
HP:0000729HP:0000717Autism1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000717Autism1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional
HP:0000729HP:0000717Autism1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000723Restrictive behavior1C9ORF72 CL E G H20322828337ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent56
HP:0000729HP:0000717Autism1CACNA1A CL E G H7731388ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional449
HP:0000729HP:0000717Autism1CACNA1B CL E G H7741389ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000729HP:0000717Autism1CACNA1C CL E G H7751390OMIM:601005Timothy syndrome.572
HP:0000729HP:0000717Autism1CACNA2D1 CL E G H7811399ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional59
HP:0000729HP:0000717Autism1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0000729HP:0000717Autism1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0000729HP:0000717Autism1CDK19 CL E G H2309719338ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000729HP:0000723Restrictive behavior1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0000729HP:0000735Impaired social interactions1CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent405
HP:0000729HP:0000717Autism1CELF2 CL E G H106592550ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000729HP:0000735Impaired social interactions1CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional227
HP:0000729HP:0000717Autism1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040282 - Frequent515
HP:0000729HP:0000717Autism1CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0000729HP:0000735Impaired social interactions1CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0000729HP:0000723Restrictive behavior1CHMP2B CL E G H2597824537ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent42
HP:0000729HP:0000717Autism1CHRNA7 CL E G H11391960ORPHA:19931815q13.3 microdeletion syndromeHP:0040283 - Occasional52
HP:0000729HP:0000717Autism1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000735Impaired social interactions1CLTC CL E G H12132092OMIM:617854Mental retardation, autosomal dominant 561
HP:0000729HP:0000717Autism1CLTC CL E G H12132092ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000729HP:0000717Autism1CNKSR2 CL E G H2286619701ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional18
HP:0000729HP:0000717Autism1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000729HP:0000735Impaired social interactions1CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0000729HP:0000717Autism1COMT CL E G H13122228ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional6
HP:0000729HP:0000717Autism1CREBBP CL E G H13872348OMIM:180849Rubinstein-Taybi syndrome 1291
HP:0000729HP:0000735Impaired social interactions1CREBBP CL E G H13872348ORPHA:353281Rubinstein-Taybi syndrome due to 16p13.3 microdeletionHP:0040282 - Frequent291
HP:0000729HP:0000735Impaired social interactions1CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040282 - Frequent291
HP:0000729HP:0000717Autism1CYFIP2 CL E G H2699913760ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000729HP:0000717Autism1CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040283 - Occasional114
HP:0000729HP:0000717Autism1DALRD3 CL E G H5515225536ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000729HP:0000717Autism1DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040282 - Frequent33
HP:0000729HP:0000717Autism1DHCR7 CL E G H17172860OMIM:270400Smith-Lemli-Opitz syndrome159
HP:0000729HP:0000717Autism1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040282 - Frequent159
HP:0000729HP:0000717Autism1DHDDS CL E G H7994720603ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional47
HP:0000729HP:0000735Impaired social interactions1DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000729HP:0000717Autism1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000735Impaired social interactions1DNAJC6 CL E G H982915469ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0000729HP:0000717Autism1DNM1 CL E G H17592972ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional72
HP:0000729HP:0000717Autism1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000729HP:0000717Autism1DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0000729HP:0000717Autism1DYRK1A CL E G H18593091OMIM:614104Mental retardation, autosomal dominant 7134
HP:0000729HP:0000717Autism1EEF1A2 CL E G H19173192ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional60
HP:0000729HP:0000717Autism1EHMT1 CL E G H7981324650OMIM:610253Kleefstra syndrome223
HP:0000729HP:0000717Autism1EHMT1 CL E G H7981324650ORPHA:96147Kleefstra syndrome due to 9q34 microdeletionHP:0040282 - Frequent223
HP:0000729HP:0000717Autism1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000717Autism1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040282 - Frequent172
HP:0000729HP:0000717Autism1EP300 CL E G H20333373OMIM:180849Rubinstein-Taybi syndrome 1250
HP:0000729HP:0000735Impaired social interactions1EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040282 - Frequent250
HP:0000729HP:0000717Autism1EXT2 CL E G H21323513ORPHA:466926Seizures-scoliosis-macrocephaly syndromeHP:0040282 - Frequent102
HP:0000729HP:0000735Impaired social interactions1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0000729HP:0000717Autism1FGF12 CL E G H22573668ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000729HP:0000717Autism1FGF13 CL E G H22583670ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000729HP:0000717Autism1FGFR1 CL E G H22603688ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional172
HP:0000729HP:0000717Autism1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000717Autism1FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000729HP:0000717Autism1FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosisHP:0040283 - Occasional63
HP:0000729HP:0000717Autism1FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0000729HP:0000717Autism1FMR1 CL E G H23323775ORPHA:908Fragile X syndromeHP:0040283 - Occasional30
HP:0000729HP:0000735Impaired social interactions1FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0000729HP:0000735Impaired social interactions1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0000729HP:0000717Autism1FTCD CL E G H108413974ORPHA:51208Formiminoglutamic aciduriaHP:0040284 - Very rare65
HP:0000729HP:0000717Autism1FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0000729HP:0000717Autism1FZR1 CL E G H5134324824ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000729HP:0000735Impaired social interactions1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0000729HP:0000723Restrictive behavior1GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent5
HP:0000729HP:0000717Autism1GABBR2 CL E G H95684507ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional5
HP:0000729HP:0000717Autism1GABRA2 CL E G H25554076ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional4
HP:0000729HP:0000717Autism1GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0000729HP:0000717Autism1GABRA5 CL E G H25584079ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000729HP:0000717Autism1GABRB2 CL E G H25614082ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional44
HP:0000729HP:0000717Autism1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0000729HP:0000717Autism1GABRG2 CL E G H25664087ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional139
HP:0000729HP:0000717Autism1GAMT CL E G H25934136ORPHA:382Guanidinoacetate methyltransferase deficiencyHP:0040283 - Occasional91
HP:0000729HP:0000717Autism1GATM CL E G H26284175OMIM:612718Cerebral creatine deficiency syndrome 3.86
HP:0000729HP:0000735Impaired social interactions1GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 3943
HP:0000729HP:0000717Autism1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.39
HP:0000729HP:0000717Autism1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb.34
HP:0000729HP:0000717Autism1GLRA2 CL E G H27424327OMIM:301076INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, PILORGE TYPE; MRXSP
HP:0000729HP:0000717Autism1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000729HP:0000717Autism1GP1BB CL E G H28124440ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional8
HP:0000729HP:0000717Autism1GRIA3 CL E G H28924573OMIM:300699Mental retardation, X-linked 9430
HP:0000729HP:0000735Impaired social interactions1GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0000729HP:0000717Autism1GRIN2D CL E G H29064588ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000729HP:0000723Restrictive behavior1GRN CL E G H28964601ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent126
HP:0000729HP:0000717Autism1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000729HP:0000717Autism1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000729HP:0000717Autism1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000729HP:0000717Autism1H4C5 CL E G H83674790OMIM:619950
HP:0000729HP:0000717Autism1HCN1 CL E G H3489804845ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional54
HP:0000729HP:0000717Autism1HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040283 - Occasional33
HP:0000729HP:0000717Autism1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional37
HP:0000729HP:0000735Impaired social interactions1HERC1 CL E G H89254867ORPHA:457359Megalencephaly-severe kyphoscoliosis-overgrowth syndromeHP:0040283 - Occasional16
HP:0000729HP:0000717Autism1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000729HP:0000717Autism1HESX1 CL E G H88204877ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional21
HP:0000729HP:0000717Autism1HIRA CL E G H72904916ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional3
HP:0000729HP:0000717Autism1HNF1B CL E G H692811630ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional90
HP:0000729HP:0000717Autism1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0000729HP:0000735Impaired social interactions1HTRA2 CL E G H2742914348ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional39
HP:0000729HP:0000717Autism1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent23
HP:0000729HP:0000717Autism1IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-223
HP:0000729HP:0000717Autism1IL1RAPL1 CL E G H111415996OMIM:300143Mental retardation, X-linked 21.42
HP:0000729HP:0000717Autism1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000735Impaired social interactions1IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0000729HP:0000717Autism1IQSEC2 CL E G H2309629059ORPHA:217377Microduplication Xp11.22p11.23 syndromeHP:0040283 - Occasional119
HP:0000729HP:0000735Impaired social interactions1IQSEC2 CL E G H2309629059ORPHA:397933Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndromeHP:0040282 - Frequent119
HP:0000729HP:0000717Autism1JMJD1C CL E G H22103712313ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional2
HP:0000729HP:0000717Autism1KCNA2 CL E G H37376220ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000729HP:0000717Autism1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0000729HP:0000717Autism1KCNB1 CL E G H37456231ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional65
HP:0000729HP:0000717Autism1KDM5C CL E G H824211114ORPHA:85279Syndromic X-linked intellectual disability due to JARID1C mutationHP:0040283 - Occasional81
HP:0000729HP:0000717Autism1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0000729HP:0000717Autism1LHX1 CL E G H39756593ORPHA:26126517q12 microdeletion syndromeHP:0040283 - Occasional
HP:0000729HP:0000717Autism1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000735Impaired social interactions1LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64
HP:0000729HP:0000735Impaired social interactions1LRRK2 CL E G H12089218618ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional221
HP:0000729HP:0000717Autism1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000729HP:0000717Autism1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000729HP:0000717Autism1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0000729HP:0000717Autism1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0000729HP:0000717Autism1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0000729HP:0000717Autism1MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0000729HP:0000735Impaired social interactions1MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000729HP:0000717Autism1MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0000729HP:0000723Restrictive behavior1MAPT CL E G H41376893ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent140
HP:0000729HP:0000735Impaired social interactions1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000729HP:0000723Restrictive behavior1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0000729HP:0000735Impaired social interactions1MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent950
HP:0000729HP:0000723Restrictive behavior1MECP2 CL E G H42046990OMIM:300496Autism susceptibility, X-linked 3.950
HP:0000729HP:0000717Autism1MECP2 CL E G H42046990OMIM:300496Autism susceptibility, X-linked 3.950
HP:0000729HP:0000735Impaired social interactions1MECP2 CL E G H42046990OMIM:300496Autism susceptibility, X-linked 3950
HP:0000729HP:0000717Autism1MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000729HP:0000735Impaired social interactions1MED12 CL E G H996811957OMIM:309520Lujan-Fryns syndrome.228
HP:0000729HP:0000717Autism1MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000729HP:0000717Autism1MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000729HP:0000717Autism1MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0000729HP:0000735Impaired social interactions1MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000729HP:0000717Autism1MEIS2 CL E G H42127001ORPHA:26119015q14 microdeletion syndromeHP:0040283 - Occasional7
HP:0000729HP:0000717Autism1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000729HP:0000717Autism1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000729HP:0000717Autism1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000717Autism1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040282 - Frequent1
HP:0000729HP:0000717Autism1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000729HP:0000717Autism1NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0000729HP:0000717Autism1NAGA CL E G H46687631ORPHA:79279Alpha-N-acetylgalactosaminidase deficiency type 1HP:0040282 - Frequent47
HP:0000729HP:0000717Autism1NAGA CL E G H46687631ORPHA:79281Alpha-N-acetylgalactosaminidase deficiency type 3HP:0040281 - Very frequent47
HP:0000729HP:0000717Autism1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040282 - Frequent13
HP:0000729HP:0000717Autism1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0000729HP:0000717Autism1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0000729HP:0000717Autism1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0000729HP:0000717Autism1NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040283 - Occasional39
HP:0000729HP:0000717Autism1NECAP1 CL E G H2597724539ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000729HP:0000735Impaired social interactions1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000729HP:0000735Impaired social interactions1NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional52
HP:0000729HP:0000735Impaired social interactions1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040281 - Very frequent1952
HP:0000729HP:0000717Autism1NFIB CL E G H47817785OMIM:618286Macrocephaly, acquired, with impaired intellectual developmentHP:0040284 - Very rare1
HP:0000729HP:0000717Autism1NHS CL E G H48107820OMIM:302350Nance-Horan syndrome.88
HP:0000729HP:0000717Autism1NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional117
HP:0000729HP:0000717Autism1NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional1
HP:0000729HP:0000717Autism1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional494
HP:0000729HP:0000735Impaired social interactions1NLGN1 CL E G H2287114291OMIM:618830Autism, susceptibility to, 20.4
HP:0000729HP:0000735Impaired social interactions1NLGN3 CL E G H5441314289OMIM:300494Asperger syndrome, X-linked, susceptibility to, 124
HP:0000729HP:0000717Autism1NLGN3 CL E G H5441314289OMIM:300494Asperger syndrome, X-linked, susceptibility to, 1.24
HP:0000729HP:0000723Restrictive behavior1NLGN3 CL E G H5441314289OMIM:300494Asperger syndrome, X-linked, susceptibility to, 1.24
HP:0000729HP:0000723Restrictive behavior1NLGN3 CL E G H5441314289OMIM:300425Autism susceptibility, X-linked 1.24
HP:0000729HP:0000735Impaired social interactions1NLGN3 CL E G H5441314289OMIM:300425Autism susceptibility, X-linked 124
HP:0000729HP:0000717Autism1NLGN3 CL E G H5441314289OMIM:300425Autism susceptibility, X-linked 1.24
HP:0000729HP:0000717Autism1NLGN4X CL E G H5750214287OMIM:300497Asperger syndrome susceptibility, X-linked 2.57
HP:0000729HP:0000723Restrictive behavior1NLGN4X CL E G H5750214287OMIM:300497Asperger syndrome susceptibility, X-linked 2.57
HP:0000729HP:0000735Impaired social interactions1NLGN4X CL E G H5750214287OMIM:300497Asperger syndrome susceptibility, X-linked 257
HP:0000729HP:0000735Impaired social interactions1NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 257
HP:0000729HP:0000723Restrictive behavior1NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 2.57
HP:0000729HP:0000717Autism1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10
HP:0000729HP:0000717Autism1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0000729HP:0000717Autism1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000729HP:0000717Autism1NR2F1 CL E G H70257975OMIM:615722Bosch-Boonstra-Schaaf optic atrophy syndrome37
HP:0000729HP:0000723Restrictive behavior1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0000729HP:0000735Impaired social interactions1NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent1
HP:0000729HP:0000717Autism1NTRK2 CL E G H49158032ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional8
HP:0000729HP:0000717Autism1NUS1 CL E G H11615021042ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional1
HP:0000729HP:0000717Autism1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0000729HP:0000717Autism1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0000729HP:0000717Autism1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0000729HP:0000735Impaired social interactions1OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040282 - Frequent55
HP:0000729HP:0000717Autism1OTX2 CL E G H50158522ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional41
HP:0000729HP:0000717Autism1PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040282 - Frequent641
HP:0000729HP:0000717Autism1PAK2 CL E G H50628591OMIM:618458
HP:0000729HP:0000735Impaired social interactions1PARK7 CL E G H1131516369ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional23
HP:0000729HP:0000717Autism1PARS2 CL E G H2597330563ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional14
HP:0000729HP:0000717Autism1PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0000729HP:0000717Autism1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent113
HP:0000729HP:0000717Autism1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000729HP:0000717Autism1PIGL CL E G H94878966ORPHA:3474CHIME syndromeHP:0040283 - Occasional36
HP:0000729HP:0000717Autism1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0000729HP:0000735Impaired social interactions1PINK1 CL E G H6501814581ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional55
HP:0000729HP:0000735Impaired social interactions1PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A133
HP:0000729HP:0000717Autism1PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0000729HP:0000735Impaired social interactions1PODXL CL E G H54209171ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional6
HP:0000729HP:0000735Impaired social interactions1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0000729HP:0000717Autism1PPP3CA CL E G H55309314ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional2
HP:0000729HP:0000717Autism1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0000729HP:0000717Autism1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent134
HP:0000729HP:0000717Autism1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000729HP:0000735Impaired social interactions1PRKN CL E G H50718607ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional138
HP:0000729HP:0000717Autism1PROKR2 CL E G H12867415836ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional34
HP:0000729HP:0000723Restrictive behavior1PSEN1 CL E G H56639508ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent241
HP:0000729HP:0000717Autism1PTCHD1 CL E G H13941126392OMIM:300830Autism, susceptibility to, X-linked 4HP:0040280 - Obligate34
HP:0000729HP:0000717Autism1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0000729HP:0000717Autism1PTEN CL E G H57289588OMIM:605309Macrocephaly/autism syndrome.948
HP:0000729HP:0000735Impaired social interactions1PUS3 CL E G H8348025461OMIM:617051MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT551
HP:0000729HP:0000717Autism1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000717Autism1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000717Autism1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional25
HP:0000729HP:0000717Autism1RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040281 - Very frequent150
HP:0000729HP:0000717Autism1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0000729HP:0000717Autism1REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0000729HP:0000717Autism1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000717Autism1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040282 - Frequent10
HP:0000729HP:0000717Autism1RREB1 CL E G H623910449ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000729HP:0000735Impaired social interactions1RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0000729HP:0000717Autism1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000729HP:0000717Autism1SATB2 CL E G H2331421637ORPHA:2510192q32q33 microdeletion syndromeHP:0040283 - Occasional34
HP:0000729HP:0000735Impaired social interactions1SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional1053
HP:0000729HP:0000717Autism1SCN3A CL E G H632810590ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional70
HP:0000729HP:0000717Autism1SCN8A CL E G H633410596ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional357
HP:0000729HP:0000717Autism1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0000729HP:0000717Autism1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0000729HP:0000717Autism1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0000729HP:0000717Autism1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0000729HP:0000717Autism1SEC24C CL E G H963210705ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000729HP:0000717Autism1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040282 - Frequent16
HP:0000729HP:0000735Impaired social interactions1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000729HP:0000717Autism1SH2B1 CL E G H2597030417ORPHA:261197Proximal 16p11.2 microdeletion syndromeHP:0040283 - Occasional
HP:0000729HP:0000735Impaired social interactions1SH2B1 CL E G H2597030417ORPHA:329249Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyHP:0040281 - Very frequent
HP:0000729HP:0000735Impaired social interactions1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000729HP:0000717Autism1SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000729HP:0000717Autism1SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000729HP:0000717Autism1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0000729HP:0000717Autism1SLC13A5 CL E G H28411123089ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional73
HP:0000729HP:0000717Autism1SLC1A2 CL E G H650610940ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional3
HP:0000729HP:0000735Impaired social interactions1SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional255
HP:0000729HP:0000717Autism1SLC35C1 CL E G H5534320197OMIM:266265Congenital disorder of glycosylation, type IIc71
HP:0000729HP:0000717Autism1SLC38A3 CL E G H1099118044ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000729HP:0000735Impaired social interactions1SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional29
HP:0000729HP:0000735Impaired social interactions1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000729HP:0000717Autism1SLC9A6 CL E G H1047911079ORPHA:85278Christianson syndromeHP:0040282 - Frequent93
HP:0000729HP:0000717Autism1SMAD4 CL E G H40896770OMIM:139210Myhre syndrome504
HP:0000729HP:0000723Restrictive behavior1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0000729HP:0000735Impaired social interactions1SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040282 - Frequent135
HP:0000729HP:0000717Autism1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional135
HP:0000729HP:0000717Autism1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040283 - Occasional91
HP:0000729HP:0000735Impaired social interactions1SNCA CL E G H662211138ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional65
HP:0000729HP:0000717Autism1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000717Autism1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000729HP:0000723Restrictive behavior1SNRPN CL E G H663811164OMIM:209850Autism susceptibility 1.37
HP:0000729HP:0000735Impaired social interactions1SNRPN CL E G H663811164OMIM:209850Autism susceptibility 137
HP:0000729HP:0000717Autism1SNRPN CL E G H663811164OMIM:209850Autism susceptibility 1.37
HP:0000729HP:0000717Autism1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0000729HP:0000717Autism1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0000729HP:0000717Autism1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0000729HP:0000735Impaired social interactions1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000729HP:0000717Autism1SOX2 CL E G H665711195ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional33
HP:0000729HP:0000717Autism1SOX3 CL E G H665811199ORPHA:3157Septo-optic dysplasia spectrumHP:0040283 - Occasional24
HP:0000729HP:0000717Autism1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0000729HP:0000723Restrictive behavior1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000729HP:0000735Impaired social interactions1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000729HP:0000717Autism1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000729HP:0000723Restrictive behavior1SQSTM1 CL E G H887811280ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent62
HP:0000729HP:0000717Autism1STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosisHP:0040283 - Occasional19
HP:0000729HP:0000717Autism1STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040283 - Occasional19
HP:0000729HP:0000717Autism1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000735Impaired social interactions1SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040283 - Occasional108
HP:0000729HP:0000717Autism1SYNGAP1 CL E G H883111497ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional108
HP:0000729HP:0000735Impaired social interactions1SYNGAP1 CL E G H883111497ORPHA:544254SYNGAP1-related developmental and epileptic encephalopathyHP:0040283 - Occasional108
HP:0000729HP:0000717Autism1SYNJ1 CL E G H886711503ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional9
HP:0000729HP:0000735Impaired social interactions1SYNJ1 CL E G H886711503ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional9
HP:0000729HP:0000717Autism1SZT2 CL E G H2333429040ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional123
HP:0000729HP:0000717Autism1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000729HP:0000717Autism1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040284 - Very rare13
HP:0000729HP:0000717Autism1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000717Autism1TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay.1
HP:0000729HP:0000735Impaired social interactions1TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay.1
HP:0000729HP:0000717Autism1TBX1 CL E G H689911592ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional32
HP:0000729HP:0000717Autism1TBX1 CL E G H689911592ORPHA:172722q11.2 duplication syndromeHP:0040283 - Occasional32
HP:0000729HP:0000717Autism1TCF12 CL E G H693811623OMIM:615314Craniosynostosis 3HP:0040283 - Occasional28
HP:0000729HP:0000735Impaired social interactions1TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0000729HP:0000723Restrictive behavior1TMEM106B CL E G H5466422407ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent
HP:0000729HP:0000717Autism1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000717Autism1TMLHE CL E G H5521718308OMIM:300872Autism, susceptibility to, X-linked 6.10
HP:0000729HP:0000717Autism1TRAK1 CL E G H2290629947ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000729HP:0000723Restrictive behavior1TREM2 CL E G H5420917761ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent31
HP:0000729HP:0000735Impaired social interactions1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000729HP:0000717Autism1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent1090
HP:0000729HP:0000717Autism1TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-11090
HP:0000729HP:0000717Autism1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040282 - Frequent2738
HP:0000729HP:0000717Autism1TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-22738
HP:0000729HP:0000735Impaired social interactions1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040283 - Occasional64
HP:0000729HP:0000717Autism1TUBG1 CL E G H728312417ORPHA:26118315q11.2 microdeletion syndromeHP:0040283 - Occasional14
HP:0000729HP:0000717Autism1UBA5 CL E G H7987623230ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional13
HP:0000729HP:0000717Autism1UBE3A CL E G H733712496ORPHA:23844615q11q13 microduplication syndromeHP:0040282 - Frequent278
HP:0000729HP:0000717Autism1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000729HP:0000735Impaired social interactions1UCHL1 CL E G H734512513ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional21
HP:0000729HP:0000717Autism1UFD1 CL E G H735312520ORPHA:56722q11.2 deletion syndromeHP:0040283 - Occasional
HP:0000729HP:0000717Autism1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0000729HP:0000723Restrictive behavior1VCP CL E G H741512666ORPHA:275864Behavioral variant of frontotemporal dementiaHP:0040281 - Very frequent63
HP:0000729HP:0000735Impaired social interactions1VPS13C CL E G H5483223594ORPHA:2828Young-onset Parkinson diseaseHP:0040283 - Occasional8
HP:0000729HP:0000717Autism1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040282 - Frequent
HP:0000729HP:0000735Impaired social interactions1WARS2 CL E G H1035212730OMIM:619738PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS32
HP:0000729HP:0000717Autism1WWOX CL E G H5174112799ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional149
HP:0000729HP:0000717Autism1YWHAG CL E G H753212852ORPHA:442835Non-specific early-onset epileptic encephalopathyHP:0040283 - Occasional
HP:0000729HP:0000717Autism1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000729HP:0000717Autism1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000729HP:0000735Impaired social interactions1ZMYND11 CL E G H1077116966OMIM:616083Mental retardation, autosomal dominant 3024
HP:0000729HP:4000084Reduced sharing of interests2 CL E G H
HP:0000729HP:4000083Absence of interest in peers2 CL E G H
HP:0000729HP:4000082Reduced collaborative play2 CL E G H
HP:0000729HP:4000080Lack of social initiations2 CL E G H
HP:0000729HP:4000085Reduced object sharing2 CL E G H
HP:0000729HP:0008763No social interaction2ACOX1 CL E G H51119OMIM:264470Peroxisomal acyl-coa oxidase deficiency.120
HP:0000729HP:0002332Lack of peer relationships2AP2M1 CL E G H1173564ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent
HP:0000729HP:0002332Lack of peer relationships2CHD2 CL E G H11061917ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent227
HP:0000729HP:0008763No social interaction2EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040283 - Occasional3
HP:0000729HP:0008763No social interaction2GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040282 - Frequent43
HP:0000729HP:0008763No social interaction2IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1119
HP:0000729HP:0002332Lack of peer relationships2MECP2 CL E G H42046990OMIM:300496Autism susceptibility, X-linked 3.950
HP:0000729HP:0002332Lack of peer relationships2NEXMIF CL E G H34053329433ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent52
HP:0000729HP:0000728Impaired ability to form peer relationships2NLGN3 CL E G H5441314289OMIM:300494Asperger syndrome, X-linked, susceptibility to, 1.24
HP:0000729HP:0002332Lack of peer relationships2NLGN3 CL E G H5441314289OMIM:300425Autism susceptibility, X-linked 1.24
HP:0000729HP:0000728Impaired ability to form peer relationships2NLGN4X CL E G H5750214287OMIM:300497Asperger syndrome susceptibility, X-linked 2.57
HP:0000729HP:0002332Lack of peer relationships2NLGN4X CL E G H5750214287OMIM:300495Autism, susceptibility to, X-linked 2.57
HP:0000729HP:0002332Lack of peer relationships2SCN1A CL E G H632310585ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent1053
HP:0000729HP:0008763No social interaction2SH2B1 CL E G H2597030417ORPHA:329249Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiencyHP:0040282 - Frequent
HP:0000729HP:0002332Lack of peer relationships2SLC2A1 CL E G H651311005ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent255
HP:0000729HP:0002332Lack of peer relationships2SLC6A1 CL E G H652911042ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent29
HP:0000729HP:0000728Impaired ability to form peer relationships2SNRPN CL E G H663811164OMIM:209850Autism susceptibility 1.37
HP:0000729HP:0002332Lack of peer relationships2SYNGAP1 CL E G H883111497ORPHA:1942Myoclonic-astatic epilepsyHP:0040282 - Frequent108
HP:0000729HP:0008763No social interaction2TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1


Genes (554) :AARS1 ACOX1 ACSL4 ACTL6B ADGRL1 ADGRV1 ADH5 ADNP ADSL AFF2 AFF3 AGO2 AHDC1 AKT1 ALAD ALDH18A1 ALDH4A1 ALDH5A1 ALG11 ALG13 ALG14 ALMS1 ANK3 ANKRD11 ANKRD17 AP1G1 AP1S2 AP2M1 AP3B2 APC2 ARCN1 ARID1A ARID1B ARID2 ARNT2 ARV1 ARVCF ARX ASH1L ASXL3 ATG7 ATP1A1 ATP1A2 ATP1A3 ATP2B1 ATP6V0A1 ATP6V1A ATP6V1B2 ATRX AUTS2 BAP1 BAZ1B BCKDK BCL7B BCOR BCORL1 BICRA BRD4 BUD23 C12ORF4 C9ORF72 CACNA1A CACNA1B CACNA1C CACNA2D1 CAMK2B CAMTA1 CAPN15 CARS2 CASK CASZ1 CC2D2A CDC42BPB CDH11 CDH15 CDH2 CDK13 CDK19 CDK8 CDKL5 CELF2 CEP290 CEP85L CHD1 CHD2 CHD5 CHD7 CHD8 CHKA CHMP1A CHMP2B CHRNA7 CIC CLCN3 CLCN4 CLIP2 CLN5 CLN8 CLTC CNKSR2 CNOT3 CNTNAP2 COG5 COMT CREBBP CTCF CTNNB1 CUL3 CUX2 CYFIP2 CYP27A1 DALRD3 DCX DDX3X DEAF1 DEPDC5 DHCR7 DHDDS DLG4 DLK1 DLL1 DMPK DMXL2 DNAJC21 DNAJC30 DNAJC6 DNM1 DOLK DPAGT1 DPF2 DPYD DPYSL5 DYRK1A EEF1A2 EFL1 EHMT1 EIF4H EIF5A ELN EP300 EXT2 EXTL3 FBLN5 FBXW11 FGF12 FGF13 FGFR1 FKBP6 FLCN FLG FMR1 FOXG1 FOXP1 FOXP2 FRMPD4 FRRS1L FTCD FTSJ1 FZR1 GABBR2 GABRA1 GABRA2 GABRA5 GABRB2 GABRB3 GABRD GABRG2 GALNT2 GALT GAMT GATAD2B GATM GFM2 GJA5 GJA8 GLRA2 GLYCTK GNAI1 GNAO1 GNAQ GNB1 GNB2 GP1BB GRIA1 GRIA2 GRIA3 GRIK2 GRIN1 GRIN2A GRIN2D GRM7 GRN GTF2I GTF2IRD1 GTF2IRD2 H3-3A H4C11 H4C5 HCN1 HDAC4 HDAC8 HECW2 HERC1 HERC2 HESX1 HEXB HIRA HIVEP2 HNF1B HNRNPH2 HSPG2 HTRA2 IARS1 IFNG IFT140 IL1RAPL1 INTS1 IPW IQSEC2 JAG2 JAM2 JMJD1C KANSL1 KAT6A KAT8 KCNA1 KCNA2 KCNAB2 KCNB1 KCNC2 KCNN2 KDM3B KDM4B KDM5C KDM6B KLLN KMT2B KMT2C KMT5B KPTN LHX1 LIMK1 LINGO1 LRRK2 LSS LUZP1 MADD MAGEL2 MAN1B1 MAN2C1 MAOA MAP1B MAPK10 MAPK8IP3 MAPT MBD5 MBOAT7 MCTP2 MECP2 MED12 MED12L MED13 MED13L MEF2C MEG3 MEIS2 METTL27 METTL5 MFSD2A MID1 MKRN3 MKRN3-AS1 MLXIPL MMP23B MSTO1 MTOR MTSS2 MYT1L NAA10 NAA15 NAA20 NAGA NBEA NCF1 NDN NDP NECAP1 NEUROD2 NEXMIF NF1 NFIB NFIX NHS NIPA1 NIPA2 NIPBL NLGN1 NLGN3 NLGN4X NONO NOVA2 NPAP1 NPRL2 NPRL3 NR2F1 NSD1 NSD2 NTNG1 NTNG2 NTRK2 NUS1 OCA2 OPHN1 OTUD5 OTUD6B OTX2 PACS1 PACS2 PAH PAK2 PARK7 PARS2 PCDH19 PCGF2 PDE4D PDPN PDZD8 PGAP2 PGAP3 PHACTR1 PHF21A PIGG PIGL PIGO PIGP PIGQ PIGS PIGV PIGW PIGY PIK3CA PINK1 PLA2G6 PLXNA1 PLXND1 PNKP PODXL POGZ POLA1 POLR2A POMT1 POU3F3 POU4F1 PPM1D PPP2CA PPP2R5D PPP3CA PRDM16 PRKAR1A PRKAR1B PRKCZ PRKN PRODH PROKR2 PRORP PRR12 PSEN1 PSMC3 PSMD12 PTCHD1 PTEN PUF60 PUS3 PWAR1 PWRN1 QRICH1 RAB39B RAC1 RAD21 RAI1 RALA RERE REV3L RFC2 RIMS2 RLIM RNF135 RORA RPGRIP1L RPL10 RPS23 RREB1 RSPRY1 RSRC1 RTL1 SATB1 SATB2 SBDS SBF2 SCN1A SCN1B SCN2A SCN3A SCN8A SCN9A SDHB SDHC SDHD SEC23B SEC24C SEMA3E SETBP1 SETD1A SETD1B SETD2 SETD5 SH2B1 SHANK3 SIK1 SIM1 SIN3A SIN3B SKI SLC12A2 SLC13A5 SLC1A2 SLC25A22 SLC2A1 SLC35A3 SLC35C1 SLC38A3 SLC6A1 SLC6A8 SLC9A6 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SNCA SNORD115-1 SNORD116-1 SNRPN SNX14 SON SOX11 SOX2 SOX3 SOX4 SOX6 SPATA5 SPECC1L SPEN SPTBN1 SQSTM1 SRCAP SRP54 SRY STAG1 STAG2 STEEP1 STS STX1A STX1B SUPT16H SVBP SYN1 SYNGAP1 SYNJ1 SYT1 SZT2 TAF1 TANC2 TAOK1 TBC1D24 TBC1D2B TBCK TBL1XR1 TBL2 TBR1 TBX1 TBX2 TCF12 TCF20 TCF4 TET3 TFE3 THOC2 TIAM1 TLK2 TM4SF20 TMEM106B TMEM138 TMEM216 TMEM222 TMEM231 TMEM237 TMEM270 TMLHE TMTC3 TNPO2 TNRC6B TOE1 TOGARAM1 TRAK1 TREM2 TRIM8 TRIO TRIP12 TRRAP TSC1 TSC2 TTC5 TUBB3 TUBG1 UBA2 UBA5 UBE3A UBE4A UBE4B UBTF UCHL1 UFD1 UPF3B USF3 USP7 USP9X VAMP2 VCP VPS13C VPS37D WAC WARS2 WDR26 WFS1 WWOX YWHAG YY1 ZBTB20 ZBTB7A ZFPM2 ZIC1 ZMIZ1 ZMYM2 ZMYND11 ZNF292 ZNF423 ZNF462 ZNF711 ZNFX1

Diseases (468) :ORPHA:442835 OMIM:264470 OMIM:300387 OMIM:618470 OMIM:620065 ORPHA:36387 OMIM:619151 ORPHA:404448 OMIM:615873 OMIM:103050 ORPHA:100973 OMIM:619297 OMIM:619149 ORPHA:412069 ORPHA:201 ORPHA:100924 ORPHA:90348 OMIM:616603 ORPHA:79101 OMIM:271980 ORPHA:280071 ORPHA:324422 OMIM:619031 ORPHA:64 ORPHA:356996 ORPHA:261250 OMIM:619504 OMIM:619467 ORPHA:85335 OMIM:618587 ORPHA:1942 ORPHA:821 OMIM:617164 ORPHA:1465 OMIM:135900 ORPHA:3157 ORPHA:567 ORPHA:1934 OMIM:617796 ORPHA:352577 OMIM:615485 OMIM:619422 ORPHA:564178 OMIM:601338 ORPHA:1171 OMIM:619910 OMIM:619970 ORPHA:79500 ORPHA:847 ORPHA:352490 OMIM:615834 OMIM:619762 ORPHA:904 OMIM:614923 OMIM:309800 OMIM:301029 OMIM:619325 ORPHA:199 OMIM:618221 ORPHA:275864 ORPHA:2382 OMIM:601005 OMIM:617799 ORPHA:314647 OMIM:619318 ORPHA:477774 ORPHA:1606 ORPHA:2318 OMIM:619841 OMIM:619736 OMIM:612580 OMIM:618929 OMIM:617360 OMIM:618748 ORPHA:3095 OMIM:619561 OMIM:618873 ORPHA:529965 OMIM:615369 OMIM:619873 ORPHA:138 OMIM:615032 OMIM:620023 OMIM:614961 ORPHA:199318 OMIM:617600 OMIM:619512 OMIM:619517 ORPHA:485350 OMIM:300114 ORPHA:228360 ORPHA:1947 OMIM:617854 OMIM:618672 ORPHA:163681 OMIM:610042 ORPHA:263487 OMIM:618332 OMIM:180849 ORPHA:353281 ORPHA:353277 ORPHA:363611 OMIM:615502 OMIM:615075 ORPHA:404473 OMIM:619239 ORPHA:909 ORPHA:2148 ORPHA:457260 ORPHA:468620 OMIM:604364 ORPHA:98820 ORPHA:818 OMIM:270400 OMIM:618793 ORPHA:254531 OMIM:618709 ORPHA:589821 ORPHA:811 ORPHA:2828 ORPHA:91131 ORPHA:86309 ORPHA:293948 ORPHA:1675 OMIM:274270 OMIM:619435 ORPHA:268261 ORPHA:464311 OMIM:614104 OMIM:616409 OMIM:610253 ORPHA:96147 ORPHA:261652 OMIM:619376 OMIM:618333 OMIM:613684 ORPHA:353284 OMIM:616682 ORPHA:466926 ORPHA:508533 OMIM:618914 OMIM:301058 OMIM:610883 ORPHA:461 OMIM:300624 ORPHA:908 ORPHA:449291 OMIM:613454 ORPHA:391372 OMIM:613670 ORPHA:209908 OMIM:300983 ORPHA:725 ORPHA:51208 OMIM:309549 ORPHA:33069 OMIM:618557 OMIM:618559 OMIM:618885 ORPHA:79239 ORPHA:382 ORPHA:363686 OMIM:612718 ORPHA:565624 OMIM:612474 OMIM:301076 ORPHA:941 OMIM:619854 ORPHA:3205 OMIM:616973 OMIM:619503 OMIM:619927 OMIM:618917 OMIM:300699 ORPHA:364028 OMIM:619580 ORPHA:208447 OMIM:617820 OMIM:245570 ORPHA:98818 OMIM:619720 OMIM:619759 OMIM:619950 OMIM:615871 OMIM:618482 ORPHA:1001 OMIM:617268 ORPHA:457359 OMIM:615516 OMIM:176270 ORPHA:309162 OMIM:616977 ORPHA:261265 OMIM:300986 ORPHA:541423 ORPHA:805 OMIM:613254 OMIM:266920 OMIM:300143 OMIM:618571 OMIM:309530 ORPHA:217377 ORPHA:397933 OMIM:619566 OMIM:618824 ORPHA:363958 ORPHA:363965 OMIM:616268 OMIM:618974 OMIM:619913 OMIM:619725 OMIM:618846 OMIM:619320 ORPHA:85279 OMIM:618505 ORPHA:589618 OMIM:617768 OMIM:617788 ORPHA:397612 OMIM:615637 OMIM:618103 OMIM:618840 OMIM:619005 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 ORPHA:397941 OMIM:614202 OMIM:619775 OMIM:300615 OMIM:618918 OMIM:618443 OMIM:156200 OMIM:617188 ORPHA:1596 OMIM:300496 OMIM:300260 OMIM:300055 OMIM:312750 OMIM:309520 OMIM:300895 OMIM:618872 OMIM:618009 ORPHA:369891 OMIM:616789 ORPHA:228384 ORPHA:261190 OMIM:600987 OMIM:618665 OMIM:616486 ORPHA:2745 ORPHA:502423 ORPHA:457485 OMIM:620086 OMIM:616521 ORPHA:276432 OMIM:617787 OMIM:619717 ORPHA:79279 ORPHA:79281 OMIM:619157 ORPHA:649 OMIM:300912 ORPHA:85277 ORPHA:97685 OMIM:618286 OMIM:614753 OMIM:302350 ORPHA:261183 OMIM:618830 OMIM:300494 OMIM:300425 OMIM:300497 OMIM:300495 ORPHA:466791 OMIM:300967 OMIM:618859 OMIM:615722 ORPHA:401777 OMIM:619695 OMIM:618718 OMIM:613886 OMIM:617831 ORPHA:98794 ORPHA:137831 OMIM:301056 ORPHA:505237 OMIM:617452 ORPHA:329224 OMIM:618067 ORPHA:79254 OMIM:618458 ORPHA:101039 OMIM:618371 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:620021 ORPHA:247262 OMIM:618298 OMIM:618725 ORPHA:488635 ORPHA:3474 OMIM:618143 ORPHA:35069 OMIM:256600 OMIM:619955 ORPHA:570 OMIM:616364 ORPHA:468678 OMIM:301030 ORPHA:163976 OMIM:618603 ORPHA:86812 OMIM:618604 OMIM:617450 OMIM:618354 ORPHA:457279 OMIM:619680 OMIM:239500 OMIM:619737 OMIM:619539 OMIM:619354 OMIM:617516 OMIM:300830 OMIM:605309 ORPHA:508488 ORPHA:508498 OMIM:617051 OMIM:617982 OMIM:300271 OMIM:617751 ORPHA:1713 OMIM:619311 OMIM:616975 ORPHA:494344 OMIM:618970 OMIM:300978 ORPHA:137634 OMIM:618060 OMIM:619113 ORPHA:459070 OMIM:617412 ORPHA:457395 OMIM:616723 OMIM:618402 OMIM:619229 ORPHA:251019 ORPHA:576283 ORPHA:99956 OMIM:614558 OMIM:616078 OMIM:619056 OMIM:619000 OMIM:616831 ORPHA:404440 OMIM:615761 ORPHA:261222 ORPHA:261197 ORPHA:329249 ORPHA:48652 OMIM:606232 ORPHA:171829 ORPHA:369873 ORPHA:398079 ORPHA:500166 OMIM:613406 OMIM:619083 OMIM:615553 ORPHA:370943 OMIM:266265 ORPHA:99843 OMIM:300352 ORPHA:52503 ORPHA:85278 OMIM:139210 OMIM:619293 OMIM:301044 OMIM:209850 ORPHA:177907 ORPHA:397709 OMIM:616354 ORPHA:500150 OMIM:617140 OMIM:618971 ORPHA:457351 OMIM:145420 OMIM:619312 OMIM:619475 OMIM:619595 OMIM:618752 ORPHA:1772 OMIM:617635 ORPHA:502434 ORPHA:521258 OMIM:301013 ORPHA:281090 OMIM:619480 OMIM:618569 OMIM:300491 OMIM:612621 ORPHA:544254 ORPHA:522077 OMIM:300966 ORPHA:480907 OMIM:618906 OMIM:619575 ORPHA:397973 ORPHA:488632 OMIM:616944 ORPHA:1617 OMIM:606053 ORPHA:1727 OMIM:618223 OMIM:615314 OMIM:619718 OMIM:618430 ORPHA:2896 OMIM:618798 OMIM:301066 ORPHA:457240 OMIM:619908 OMIM:618050 OMIM:615432 OMIM:619470 OMIM:300872 OMIM:617255 OMIM:619556 OMIM:619243 OMIM:614969 OMIM:619185 OMIM:619428 OMIM:617061 ORPHA:476126 OMIM:617752 OMIM:618454 OMIM:191100 OMIM:619244 ORPHA:300570 OMIM:619959 ORPHA:238446 OMIM:619639 ORPHA:500180 OMIM:300676 ORPHA:500055 OMIM:616863 OMIM:300919 OMIM:618760 ORPHA:284169 ORPHA:466950 OMIM:619738 ORPHA:513456 ORPHA:411590 ORPHA:506358 OMIM:617557 OMIM:259050 OMIM:619769 OMIM:616067 OMIM:618736 OMIM:618659 OMIM:619522 OMIM:616083 OMIM:619188 OMIM:618619 OMIM:300803 OMIM:619644
 

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