Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal social behavior (HP:0012433)help
Grandparent Node:
expand
Autistic behavior (HP:0000729)help
Parent Node:
expand
Impaired social interactions (HP:0000735)help
..Starting node
..expand
Poor eye contact (HP:0000817)help
Term ID: 817
Name: Poor eye contact
Synonym: Poor eye contact
Definition: Difficulty in looking at another person in the eye.
Comments:
Reference: HP:0000817
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal nonverbal communicative behavior (HP:0000758) help
..expandImpaired ability to form peer relationships (HP:0000728) help
..expandLack of peer relationships (HP:0002332) help
..expandNo social interaction (HP:0008763) 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:0000817HP:0000817Poor eye contact0ADAM22 CL E G H53616201OMIM:617933Epileptic encephalopathy, early infantile, 61
HP:0000817HP:0000817Poor eye contact0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0000817HP:0000817Poor eye contact0ADSL CL E G H158291OMIM:103050Adenylosuccinase deficiency.118
HP:0000817HP:0000817Poor eye contact0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0000817HP:0000817Poor eye contact0ALG13 CL E G H7986830881ORPHA:324422ALG13-CDGHP:0040283 - Occasional96
HP:0000817HP:0000817Poor eye contact0ALG13 CL E G H7986830881OMIM:300884Epileptic encephalopathy, early infantile, 36.96
HP:0000817HP:0000817Poor eye contact0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0000817HP:0000817Poor eye contact0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0000817HP:0000817Poor eye contact0ARFGEF2 CL E G H1056415853OMIM:608097Periventricular heterotopia with microcephaly, autosomal recessive.179
HP:0000817HP:0000817Poor eye contact0ARX CL E G H17030218060OMIM:308350Developmental and epileptic encephalopathy 1166
HP:0000817HP:0000817Poor eye contact0ATP1A2 CL E G H477800OMIM:619605DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98239
HP:0000817HP:0000817Poor eye contact0CACNA2D2 CL E G H92541400OMIM:618501Cerebellar atrophy with seizures and variable developmental delay.48
HP:0000817HP:0000817Poor eye contact0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000817HP:0000817Poor eye contact0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent405
HP:0000817HP:0000817Poor eye contact0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0000817HP:0000817Poor eye contact0CDKL5 CL E G H679211411OMIM:300672Developmental and epileptic encephalopathy 2405
HP:0000817HP:0000817Poor eye contact0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000817HP:0000817Poor eye contact0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0000817HP:0000817Poor eye contact0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0000817HP:0000817Poor eye contact0CUX2 CL E G H2331619347OMIM:618141Epileptic encephalopathy, early infantile, 67.
HP:0000817HP:0000817Poor eye contact0DEAF1 CL E G H1052214677ORPHA:468620Intellectual disability-epilepsy-extrapyramidal syndromeHP:0040281 - Very frequent33
HP:0000817HP:0000817Poor eye contact0DEAF1 CL E G H1052214677OMIM:615828Mental retardation, autosomal dominant 24.33
HP:0000817HP:0000817Poor eye contact0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000817HP:0000817Poor eye contact0DOCK7 CL E G H8544019190ORPHA:411986Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndromeHP:0040282 - Frequent11
HP:0000817HP:0000817Poor eye contact0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0000817HP:0000817Poor eye contact0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000817HP:0000817Poor eye contact0FMR1 CL E G H23323775OMIM:300624Fragile X mental retardation syndrome.30
HP:0000817HP:0000817Poor eye contact0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040284 - Very rare30
HP:0000817HP:0000817Poor eye contact0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0000817HP:0000817Poor eye contact0FOXRED1 CL E G H5557226927ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent61
HP:0000817HP:0000817Poor eye contact0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0000817HP:0000817Poor eye contact0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent5
HP:0000817HP:0000817Poor eye contact0GABRA2 CL E G H25554076OMIM:618557DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE784
HP:0000817HP:0000817Poor eye contact0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000817HP:0000817Poor eye contact0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 1.85
HP:0000817HP:0000817Poor eye contact0GFM2 CL E G H8434029682ORPHA:565624Combined oxidative phosphorylation defect type 39HP:0040282 - Frequent43
HP:0000817HP:0000817Poor eye contact0GLS CL E G H27444331OMIM:618339Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0000817HP:0000817Poor eye contact0GNB5 CL E G H106814401ORPHA:542306GNB5-related intellectual disability-cardiac arrhythmia syndromeHP:0040283 - Occasional7
HP:0000817HP:0000817Poor eye contact0GPHN CL E G H1024315465OMIM:615501Molybdenum cofactor deficiency, complementation group C.18
HP:0000817HP:0000817Poor eye contact0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0000817HP:0000817Poor eye contact0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive.108
HP:0000817HP:0000817Poor eye contact0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0000817HP:0000817Poor eye contact0GUF1 CL E G H6055825799OMIM:617065Epileptic encephalopathy, early infantile, 402
HP:0000817HP:0000817Poor eye contact0IREB2 CL E G H36586115OMIM:618451Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia.
HP:0000817HP:0000817Poor eye contact0KCNT1 CL E G H5758218865OMIM:614959Epileptic encephalopathy, early infantile, 14HP:0040283 - Occasional321
HP:0000817HP:0000817Poor eye contact0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0000817HP:0000817Poor eye contact0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0000817HP:0000817Poor eye contact0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent950
HP:0000817HP:0000817Poor eye contact0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0000817HP:0000817Poor eye contact0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0000817HP:0000817Poor eye contact0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional1
HP:0000817HP:0000817Poor eye contact0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0000817HP:0000817Poor eye contact0NALCN CL E G H25923219082OMIM:615419Hypotonia, infantile, with psychomotor retardation and characteristic facies 1.48
HP:0000817HP:0000817Poor eye contact0ND1 CL E G H45357455ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000817HP:0000817Poor eye contact0ND2 CL E G H45367456ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000817HP:0000817Poor eye contact0ND3 CL E G H45377458ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000817HP:0000817Poor eye contact0NDE1 CL E G H5482017619OMIM:605013MICROHYDRANENCEPHALY96
HP:0000817HP:0000817Poor eye contact0NDUFA1 CL E G H46947683ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent7
HP:0000817HP:0000817Poor eye contact0NDUFA11 CL E G H12632820371ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent32
HP:0000817HP:0000817Poor eye contact0NDUFA13 CL E G H5107917194OMIM:618249Mitochondrial complex I deficiency, nuclear type 28.3
HP:0000817HP:0000817Poor eye contact0NDUFA6 CL E G H47007690ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0000817HP:0000817Poor eye contact0NDUFAF1 CL E G H5110318828ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent40
HP:0000817HP:0000817Poor eye contact0NDUFAF2 CL E G H9194228086ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent26
HP:0000817HP:0000817Poor eye contact0NDUFAF3 CL E G H2591529918ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent31
HP:0000817HP:0000817Poor eye contact0NDUFAF3 CL E G H2591529918OMIM:618240Mitochondrial complex I deficiency, nuclear type 18.31
HP:0000817HP:0000817Poor eye contact0NDUFAF4 CL E G H2907821034ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent50
HP:0000817HP:0000817Poor eye contact0NDUFAF4 CL E G H2907821034OMIM:618237Mitochondrial complex I deficiency, nuclear type 15.50
HP:0000817HP:0000817Poor eye contact0NDUFAF5 CL E G H7913315899ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent34
HP:0000817HP:0000817Poor eye contact0NDUFAF8 CL E G H28418433551ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000817HP:0000817Poor eye contact0NDUFB10 CL E G H47167696ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent
HP:0000817HP:0000817Poor eye contact0NDUFB11 CL E G H5453920372ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent3
HP:0000817HP:0000817Poor eye contact0NDUFB3 CL E G H47097698ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent9
HP:0000817HP:0000817Poor eye contact0NDUFB9 CL E G H47157704ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent16
HP:0000817HP:0000817Poor eye contact0NDUFC2 CL E G H47187706OMIM:619170MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0000817HP:0000817Poor eye contact0NDUFS1 CL E G H47197707ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent81
HP:0000817HP:0000817Poor eye contact0NDUFS2 CL E G H47207708ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent65
HP:0000817HP:0000817Poor eye contact0NDUFS3 CL E G H47227710ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent22
HP:0000817HP:0000817Poor eye contact0NDUFS4 CL E G H47247711ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0000817HP:0000817Poor eye contact0NDUFS4 CL E G H47247711OMIM:252010Mitochondrial complex I deficiency, nuclear type 127
HP:0000817HP:0000817Poor eye contact0NDUFS6 CL E G H47267713ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent21
HP:0000817HP:0000817Poor eye contact0NDUFS7 CL E G H3742917714ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent38
HP:0000817HP:0000817Poor eye contact0NDUFS8 CL E G H47287715ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent42
HP:0000817HP:0000817Poor eye contact0NDUFV1 CL E G H47237716ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent74
HP:0000817HP:0000817Poor eye contact0NDUFV2 CL E G H47297717ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent27
HP:0000817HP:0000817Poor eye contact0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0000817HP:0000817Poor eye contact0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000817HP:0000817Poor eye contact0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0000817HP:0000817Poor eye contact0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent1
HP:0000817HP:0000817Poor eye contact0NTRK2 CL E G H49158032OMIM:613886Obesity, hyperphagia, and developmental delay.8
HP:0000817HP:0000817Poor eye contact0NUBPL CL E G H8022420278ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent89
HP:0000817HP:0000817Poor eye contact0OPHN1 CL E G H49838148ORPHA:137831X-linked intellectual disability-cerebellar hypoplasia syndromeHP:0040282 - Frequent55
HP:0000817HP:0000817Poor eye contact0PIGP CL E G H512273046OMIM:617599Epileptic encephalopathy, early infantile, 552
HP:0000817HP:0000817Poor eye contact0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000817HP:0000817Poor eye contact0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0000817HP:0000817Poor eye contact0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0000817HP:0000817Poor eye contact0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040282 - Frequent
HP:0000817HP:0000817Poor eye contact0RTL1 CL E G H38801514665ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040283 - Occasional
HP:0000817HP:0000817Poor eye contact0SHANK3 CL E G H8535814294OMIM:606232Phelan-Mcdermid syndrome53
HP:0000817HP:0000817Poor eye contact0SLC25A1 CL E G H657610979OMIM:615182Combined d-2- and l-2-hydroxyglutaric aciduria.28
HP:0000817HP:0000817Poor eye contact0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 39.44
HP:0000817HP:0000817Poor eye contact0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040281 - Very frequent135
HP:0000817HP:0000817Poor eye contact0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0000817HP:0000817Poor eye contact0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040282 - Frequent19
HP:0000817HP:0000817Poor eye contact0SPEN CL E G H2301317575OMIM:619312RADIO-TARTAGLIA SYNDROME; RATARS4
HP:0000817HP:0000817Poor eye contact0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000817HP:0000817Poor eye contact0ST3GAL3 CL E G H648710866OMIM:615006Epileptic encephalopathy, early infantile, 15.41
HP:0000817HP:0000817Poor eye contact0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040282 - Frequent1
HP:0000817HP:0000817Poor eye contact0TARS2 CL E G H8022230740OMIM:615918Combined oxidative phosphorylation deficiency 2128
HP:0000817HP:0000817Poor eye contact0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0000817HP:0000817Poor eye contact0TIMMDC1 CL E G H513001321ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent1
HP:0000817HP:0000817Poor eye contact0TMEM126B CL E G H5586330883ORPHA:2609Isolated complex I deficiencyHP:0040281 - Very frequent4
HP:0000817HP:0000817Poor eye contact0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0000817HP:0000817Poor eye contact0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0000817HP:0000817Poor eye contact0UBA5 CL E G H7987623230OMIM:617132Epileptic encephalopathy, early infantile, 44.13
HP:0000817HP:0000817Poor eye contact0UGP2 CL E G H736012527OMIM:618744DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83


Genes (105) :ADAM22 ADCY5 ADSL AGTPBP1 ALG13 ALG2 AP3B2 ARFGEF2 ARX ATP1A2 CACNA2D2 CAMK2B CDKL5 CLP1 CNTNAP2 COX10 CUX2 DEAF1 DLK1 DOCK7 DOLK FLCN FMR1 FOXG1 FOXRED1 FRMPD4 GABBR2 GABRA2 GALNT2 GFM1 GFM2 GLS GNB5 GPHN GRIA3 GRIN1 GRIN2B GUF1 IREB2 KCNT1 MBD5 MDH2 MECP2 MEF2C MEG3 MICOS13 NALCN ND1 ND2 ND3 NDE1 NDUFA1 NDUFA11 NDUFA13 NDUFA6 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEUROD2 NEXMIF NHLRC2 NTNG1 NTRK2 NUBPL OPHN1 PIGP POLA1 PUF60 RAB11B RARS1 RTL1 SHANK3 SLC25A1 SLC25A12 SMC1A SPATA5 SPEN SPTBN1 ST3GAL3 SYT1 TARS2 TBC1D23 TIMMDC1 TMEM126B TRIM8 TWNK UBA5 UGP2

Diseases (81) :OMIM:617933 OMIM:619651 OMIM:103050 OMIM:618276 ORPHA:324422 OMIM:300884 OMIM:607906 OMIM:617276 OMIM:608097 OMIM:308350 OMIM:619605 OMIM:618501 OMIM:617799 ORPHA:3095 ORPHA:505652 OMIM:300672 OMIM:615803 ORPHA:163681 OMIM:619046 OMIM:618141 ORPHA:468620 OMIM:615828 ORPHA:254531 ORPHA:411986 ORPHA:91131 OMIM:610883 OMIM:300624 ORPHA:449291 OMIM:613454 ORPHA:2609 OMIM:300983 OMIM:618557 OMIM:618885 OMIM:609060 ORPHA:565624 OMIM:618339 ORPHA:542306 OMIM:615501 ORPHA:364028 OMIM:617820 OMIM:616139 OMIM:617065 OMIM:618451 OMIM:614959 OMIM:156200 OMIM:617339 OMIM:300260 OMIM:613443 OMIM:618329 OMIM:615419 OMIM:605013 OMIM:618249 OMIM:618240 OMIM:618237 OMIM:619170 OMIM:252010 OMIM:618374 OMIM:300912 OMIM:618278 OMIM:613886 ORPHA:137831 OMIM:617599 OMIM:301030 ORPHA:508488 OMIM:617807 ORPHA:438114 OMIM:606232 OMIM:615182 OMIM:612949 OMIM:301044 ORPHA:457351 OMIM:619312 OMIM:619475 OMIM:615006 ORPHA:522077 OMIM:615918 OMIM:617695 OMIM:619428 OMIM:271245 OMIM:617132 OMIM:618744
 

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