Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

..Starting node
..Abnormal eye contact behavior (HP:0034435)

Term ID:

34435

Name:

Abnormal eye contact behavior

Synonym:

Definition:

Any abnormality of eye contact behavior. We define eye contact as a form of nonverbal communication between two individuals who are facing each other in which an individual directs the eyes towards the eyes or face of the other individual. Eye contact occurs frequently and voluntarily during face-to-face verbal communication. The duration and frequency of eye contact that are interpreted to be appropriate may follow social and situational norms.

Comments:

Reference:

HP:0034435

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency		118
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG		96
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36		96
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive		179
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay		48
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome		405
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder		405
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10		7
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome		33
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24		33
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome		11
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome		30
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers		30
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome		5
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78		4
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome		7
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C		18
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive		108
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14		321
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome		950
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation		1
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1		48
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28		3
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome		1
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay		8
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55		2
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome		19
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria		28
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome		135
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome		19
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15		41
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome		1
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)		113
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44		13
HP:0034435	HP:0034435	Abnormal eye contact behavior	0	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83
HP:0034435	HP:0034437	Excessive eye contact	1	CL E G H
HP:0034435	HP:0034436	Gaze avoidance	1	CL E G H
HP:0034435	HP:0000817	Poor eye contact	1	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0034435	HP:0000817	Poor eye contact	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD		25
HP:0034435	HP:0000817	Poor eye contact	1	ADSL CL E G H	158	291	OMIM:103050	Adenylosuccinase deficiency	.	118
HP:0034435	HP:0000817	Poor eye contact	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy	.	1
HP:0034435	HP:0000817	Poor eye contact	1	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional	96
HP:0034435	HP:0000817	Poor eye contact	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.	96
HP:0034435	HP:0000817	Poor eye contact	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0034435	HP:0000817	Poor eye contact	1	AP3B2 CL E G H	8120	567	OMIM:617276	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48		7
HP:0034435	HP:0000817	Poor eye contact	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.	179
HP:0034435	HP:0000817	Poor eye contact	1	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1		166
HP:0034435	HP:0000817	Poor eye contact	1	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0034435	HP:0000817	Poor eye contact	1	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0034435	HP:0000817	Poor eye contact	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0034435	HP:0000817	Poor eye contact	1	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	405
HP:0034435	HP:0000817	Poor eye contact	1	CDKL5 CL E G H	6792	11411	ORPHA:505652	CDKL5-deficiency disorder	HP:0040282 - Frequent	405
HP:0034435	HP:0000817	Poor eye contact	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0034435	HP:0000817	Poor eye contact	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0034435	HP:0000817	Poor eye contact	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0034435	HP:0000817	Poor eye contact	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0034435	HP:0000817	Poor eye contact	1	CUX2 CL E G H	23316	19347	OMIM:618141	Epileptic encephalopathy, early infantile, 67	.
HP:0034435	HP:0000817	Poor eye contact	1	DEAF1 CL E G H	10522	14677	ORPHA:468620	Intellectual disability-epilepsy-extrapyramidal syndrome	HP:0040281 - Very frequent	33
HP:0034435	HP:0000817	Poor eye contact	1	DEAF1 CL E G H	10522	14677	OMIM:615828	Mental retardation, autosomal dominant 24	.	33
HP:0034435	HP:0000817	Poor eye contact	1	DLK1 CL E G H	8788	2907	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0034435	HP:0000817	Poor eye contact	1	DOCK7 CL E G H	85440	19190	ORPHA:411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	11
HP:0034435	HP:0000817	Poor eye contact	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0034435	HP:0000817	Poor eye contact	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome		332
HP:0034435	HP:0000817	Poor eye contact	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.	30
HP:0034435	HP:0000817	Poor eye contact	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare	30
HP:0034435	HP:0000817	Poor eye contact	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant	.	177
HP:0034435	HP:0000817	Poor eye contact	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0034435	HP:0000817	Poor eye contact	1	FRMPD4 CL E G H	9758	29007	OMIM:300983	MENTAL RETARDATION, X-LINKED 104; MRX104		32
HP:0034435	HP:0000817	Poor eye contact	1	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	5
HP:0034435	HP:0000817	Poor eye contact	1	GABRA2 CL E G H	2555	4076	OMIM:618557	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78		4
HP:0034435	HP:0000817	Poor eye contact	1	GALNT2 CL E G H	2590	4124	OMIM:618885	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0034435	HP:0000817	Poor eye contact	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.	85
HP:0034435	HP:0000817	Poor eye contact	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent	43
HP:0034435	HP:0000817	Poor eye contact	1	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
HP:0034435	HP:0000817	Poor eye contact	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional	7
HP:0034435	HP:0000817	Poor eye contact	1	GPHN CL E G H	10243	15465	OMIM:615501	Molybdenum cofactor deficiency, complementation group C	.	18
HP:0034435	HP:0000817	Poor eye contact	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0034435	HP:0000817	Poor eye contact	1	GRIN1 CL E G H	2902	4584	OMIM:617820	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive	.	108
HP:0034435	HP:0000817	Poor eye contact	1	GRIN2B CL E G H	2904	4586	OMIM:616139	Epileptic encephalopathy, early infantile, 27		274
HP:0034435	HP:0000817	Poor eye contact	1	GUF1 CL E G H	60558	25799	OMIM:617065	Epileptic encephalopathy, early infantile, 40		2
HP:0034435	HP:0000817	Poor eye contact	1	IREB2 CL E G H	3658	6115	OMIM:618451	Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	.
HP:0034435	HP:0000817	Poor eye contact	1	KCNT1 CL E G H	57582	18865	OMIM:614959	Epileptic encephalopathy, early infantile, 14	HP:0040283 - Occasional	321
HP:0034435	HP:0000817	Poor eye contact	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0034435	HP:0000817	Poor eye contact	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51		4
HP:0034435	HP:0000817	Poor eye contact	1	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	950
HP:0034435	HP:0000817	Poor eye contact	1	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0034435	HP:0000817	Poor eye contact	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0034435	HP:0000817	Poor eye contact	1	MEG3 CL E G H	55384	14575	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional	1
HP:0034435	HP:0000817	Poor eye contact	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0034435	HP:0000817	Poor eye contact	1	NALCN CL E G H	259232	19082	OMIM:615419	Hypotonia, infantile, with psychomotor retardation and characteristic facies 1	.	48
HP:0034435	HP:0000817	Poor eye contact	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0034435	HP:0000817	Poor eye contact	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0034435	HP:0000817	Poor eye contact	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0034435	HP:0000817	Poor eye contact	1	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY		96
HP:0034435	HP:0000817	Poor eye contact	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0034435	HP:0000817	Poor eye contact	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0034435	HP:0000817	Poor eye contact	1	NDUFA13 CL E G H	51079	17194	OMIM:618249	Mitochondrial complex I deficiency, nuclear type 28	.	3
HP:0034435	HP:0000817	Poor eye contact	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0034435	HP:0000817	Poor eye contact	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0034435	HP:0000817	Poor eye contact	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0034435	HP:0000817	Poor eye contact	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0034435	HP:0000817	Poor eye contact	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18	.	31
HP:0034435	HP:0000817	Poor eye contact	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0034435	HP:0000817	Poor eye contact	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	.	50
HP:0034435	HP:0000817	Poor eye contact	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0034435	HP:0000817	Poor eye contact	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0034435	HP:0000817	Poor eye contact	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0034435	HP:0000817	Poor eye contact	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0034435	HP:0000817	Poor eye contact	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0034435	HP:0000817	Poor eye contact	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0034435	HP:0000817	Poor eye contact	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0034435	HP:0000817	Poor eye contact	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0034435	HP:0000817	Poor eye contact	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0034435	HP:0000817	Poor eye contact	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0034435	HP:0000817	Poor eye contact	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0034435	HP:0000817	Poor eye contact	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0034435	HP:0000817	Poor eye contact	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0034435	HP:0000817	Poor eye contact	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0034435	HP:0000817	Poor eye contact	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0034435	HP:0000817	Poor eye contact	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0034435	HP:0000817	Poor eye contact	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0034435	HP:0000817	Poor eye contact	1	NEUROD2 CL E G H	4761	7763	OMIM:618374	Epileptic encephalopathy, early infantile, 72	.
HP:0034435	HP:0000817	Poor eye contact	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0034435	HP:0000817	Poor eye contact	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0034435	HP:0000817	Poor eye contact	1	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	1
HP:0034435	HP:0000817	Poor eye contact	1	NTRK2 CL E G H	4915	8032	OMIM:613886	Obesity, hyperphagia, and developmental delay	.	8
HP:0034435	HP:0000817	Poor eye contact	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0034435	HP:0000817	Poor eye contact	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent	55
HP:0034435	HP:0000817	Poor eye contact	1	PIGP CL E G H	51227	3046	OMIM:617599	Epileptic encephalopathy, early infantile, 55		2
HP:0034435	HP:0000817	Poor eye contact	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:0034435	HP:0000817	Poor eye contact	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0034435	HP:0000817	Poor eye contact	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0034435	HP:0000817	Poor eye contact	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent
HP:0034435	HP:0000817	Poor eye contact	1	RTL1 CL E G H	388015	14665	ORPHA:254531	Temple syndrome due to paternal 14q32.2 hypomethylation	HP:0040283 - Occasional
HP:0034435	HP:0000817	Poor eye contact	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0034435	HP:0000817	Poor eye contact	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.	28
HP:0034435	HP:0000817	Poor eye contact	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39	.	44
HP:0034435	HP:0000817	Poor eye contact	1	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040281 - Very frequent	135
HP:0034435	HP:0000817	Poor eye contact	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0034435	HP:0000817	Poor eye contact	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040282 - Frequent	19
HP:0034435	HP:0000817	Poor eye contact	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0034435	HP:0000817	Poor eye contact	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0034435	HP:0000817	Poor eye contact	1	ST3GAL3 CL E G H	6487	10866	OMIM:615006	Epileptic encephalopathy, early infantile, 15	.	41
HP:0034435	HP:0000817	Poor eye contact	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040282 - Frequent	1
HP:0034435	HP:0000817	Poor eye contact	1	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21		28
HP:0034435	HP:0000817	Poor eye contact	1	TBC1D23 CL E G H	55773	25622	OMIM:617695	Pontocerebellar hypoplasia, type 11	.
HP:0034435	HP:0000817	Poor eye contact	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0034435	HP:0000817	Poor eye contact	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0034435	HP:0000817	Poor eye contact	1	TRIM8 CL E G H	81603	15579	OMIM:619428	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS		1
HP:0034435	HP:0000817	Poor eye contact	1	TWNK CL E G H	56652	1160	OMIM:271245	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	.	113
HP:0034435	HP:0000817	Poor eye contact	1	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.	13
HP:0034435	HP:0000817	Poor eye contact	1	UGP2 CL E G H	7360	12527	OMIM:618744	DEVELOPMENTAL 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.

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