Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ADCY5 CL E G H | 111 | 236 | OMIM:619651 | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD | | | | 25 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | | | | 118 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ALG13 CL E G H | 79868 | 30881 | ORPHA:324422 | ALG13-CDG | | | | 96 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | | | | 179 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | CACNA2D2 CL E G H | 9254 | 1400 | OMIM:618501 | Cerebellar atrophy with seizures and variable developmental delay | | | | 48 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | | | | 405 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | | | | 405 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | | | | 7 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | CUX2 CL E G H | 23316 | 19347 | OMIM:618141 | Epileptic encephalopathy, early infantile, 67 | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | | | | 33 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | | | | 33 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | 1 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | | | | 30 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | | | | 30 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | | | | 61 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | | | | 5 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GNB5 CL E G H | 10681 | 4401 | ORPHA:542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome | | | | 7 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | | | | 18 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | | | | 30 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | | | | 108 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GRIN2B CL E G H | 2904 | 4586 | OMIM:616139 | Epileptic encephalopathy, early infantile, 27 | | | | 274 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | | | | 2 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | | | | 321 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | | | | 4 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | | | | 950 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300496 | Autism susceptibility, X-linked 3 | . | | | 950 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | | | | 132 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | 1 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | MFF CL E G H | 56947 | 24858 | ORPHA:485421 | MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect | HP:0040282 - Frequent | | | 17 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | | | | 48 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | | | | 7 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | | | | 32 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFA13 CL E G H | 51079 | 17194 | OMIM:618249 | Mitochondrial complex I deficiency, nuclear type 28 | | | | 3 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | | | | 40 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | | | | 26 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | | | | 31 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | | | | 31 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | | | | 50 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | | | | 50 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | | | | 34 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | | | | 3 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | | | | 9 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | | | | 16 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | | | | 81 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | | | | 65 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | | | | 22 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | | | | 21 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | | | | 38 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | | | | 42 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | | | | 74 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NLGN3 CL E G H | 54413 | 14289 | OMIM:300494 | Asperger syndrome, X-linked, susceptibility to, 1 | . | | | 24 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NLGN3 CL E G H | 54413 | 14289 | OMIM:300425 | Autism susceptibility, X-linked 1 | . | | | 24 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NLGN4X CL E G H | 57502 | 14287 | OMIM:300497 | Asperger syndrome susceptibility, X-linked 2 | . | | | 57 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NLGN4X CL E G H | 57502 | 14287 | OMIM:300495 | Autism, susceptibility to, X-linked 2 | . | | | 57 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | | | | 1 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NTRK2 CL E G H | 4915 | 8032 | OMIM:613886 | Obesity, hyperphagia, and developmental delay | | | | 8 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | | | | 89 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | | | | 55 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | PIGP CL E G H | 51227 | 3046 | OMIM:617599 | Epileptic encephalopathy, early infantile, 55 | | | | 2 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | | | | 28 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | | | | 135 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative 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:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | SNRPN CL E G H | 6638 | 11164 | OMIM:209850 | Autism susceptibility 1 | . | | | 37 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | | 19 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | ST3GAL3 CL E G H | 6487 | 10866 | OMIM:615006 | Epileptic encephalopathy, early infantile, 15 | | | | 41 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | | | | 28 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | | | | | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | | | | 4 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | | | | 13 | | |
HP:0000758 | HP:0000758 | Abnormal nonverbal communicative behavior | 0 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0000758 | HP:4000087 | Abnormal facial expression use | 1 | CL E G H | | | | | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ADCY5 CL E G H | 111 | 236 | OMIM:619651 | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD | | | | 25 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | | | | 118 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ALG13 CL E G H | 79868 | 30881 | ORPHA:324422 | ALG13-CDG | | | | 96 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | | | | 179 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | CACNA2D2 CL E G H | 9254 | 1400 | OMIM:618501 | Cerebellar atrophy with seizures and variable developmental delay | | | | 48 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | | | | 405 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | | | | 405 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0000758 | HP:4000090 | Abnormal gesture use | 1 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | | | | 7 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | CUX2 CL E G H | 23316 | 19347 | OMIM:618141 | Epileptic encephalopathy, early infantile, 67 | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | | | | 33 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | | | | 33 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | 1 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | | | | 30 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | | | | 30 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | | | | 177 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | | | | 61 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | | | | 5 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | | | | 85 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | | | | 43 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GNB5 CL E G H | 10681 | 4401 | ORPHA:542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome | | | | 7 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | | | | 18 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | | | | 30 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | | | | 108 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GRIN2B CL E G H | 2904 | 4586 | OMIM:616139 | Epileptic encephalopathy, early infantile, 27 | | | | 274 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | | | | 2 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | | | | 321 | | |
HP:0000758 | HP:4000090 | Abnormal gesture use | 1 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | | | | 4 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | | | | 950 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | | | | 132 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | 1 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | | | | 48 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | | | | 7 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | | | | 32 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFA13 CL E G H | 51079 | 17194 | OMIM:618249 | Mitochondrial complex I deficiency, nuclear type 28 | | | | 3 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | | | | 40 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | | | | 26 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | | | | 31 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | | | | 31 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | | | | 50 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | | | | 50 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | | | | 34 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | | | | 3 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | | | | 9 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | | | | 16 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | | | | 81 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | | | | 65 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | | | | 22 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | | | | 21 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | | | | 38 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | | | | 42 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | | | | 74 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | | | | 27 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | | | | 1 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NTRK2 CL E G H | 4915 | 8032 | OMIM:613886 | Obesity, hyperphagia, and developmental delay | | | | 8 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | | | | 89 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | | | | 55 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | PIGP CL E G H | 51227 | 3046 | OMIM:617599 | Epileptic encephalopathy, early infantile, 55 | | | | 2 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | | | | 28 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | | | | 44 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | | | | 135 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | | | | 19 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | ST3GAL3 CL E G H | 6487 | 10866 | OMIM:615006 | Epileptic encephalopathy, early infantile, 15 | | | | 41 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | | | | 1 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | | | | 28 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | | | | | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | | | | 1 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | | | | 4 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | | | | 113 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | | | | 13 | | |
HP:0000758 | HP:0034435 | Abnormal eye contact behavior | 1 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |
HP:0000758 | HP:0034437 | Excessive eye contact | 2 | CL E G H | | | | | | | | | | |
HP:0000758 | HP:0034436 | Gaze avoidance | 2 | CL E G H | | | | | | | | | | |
HP:0000758 | HP:4000089 | Atypical facial expressions | 2 | CL E G H | | | | | | | | | | |
HP:0000758 | HP:4000088 | Context-inappropriate facial expressions | 2 | CL E G H | | | | | | | | | | |
HP:0000758 | HP:4000075 | Reduced production of facial expressions | 2 | CL E G H | | | | | | | | | | |
HP:0000758 | HP:0034481 | Atypical gestures | 2 | CL E G H | | | | | | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ADAM22 CL E G H | 53616 | 201 | OMIM:617933 | Epileptic encephalopathy, early infantile, 61 | | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ADCY5 CL E G H | 111 | 236 | OMIM:619651 | NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD | | | | 25 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ADSL CL E G H | 158 | 291 | OMIM:103050 | Adenylosuccinase deficiency | . | | | 118 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | . | | | 1 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ALG13 CL E G H | 79868 | 30881 | ORPHA:324422 | ALG13-CDG | HP:0040283 - Occasional | | | 96 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | . | | | 96 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ALG2 CL E G H | 85365 | 23159 | OMIM:607906 | Congenital disorder of glycosylation, type Ii | | | | 46 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | AP3B2 CL E G H | 8120 | 567 | OMIM:617276 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48 | | | | 7 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ARFGEF2 CL E G H | 10564 | 15853 | OMIM:608097 | Periventricular heterotopia with microcephaly, autosomal recessive | . | | | 179 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ARX CL E G H | 170302 | 18060 | OMIM:308350 | Developmental and epileptic encephalopathy 1 | | | | 166 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ATP1A2 CL E G H | 477 | 800 | OMIM:619605 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98 | | | | 239 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | CACNA2D2 CL E G H | 9254 | 1400 | OMIM:618501 | Cerebellar atrophy with seizures and variable developmental delay | . | | | 48 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 405 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | | | | 405 | | |
HP:0000758 | HP:4000081 | Reduced use of typical gestures | 2 | CHD8 CL E G H | 57680 | 20153 | OMIM:615032 | AUTISM, SUSCEPTIBILITY TO, 18; AUTS18 | | | | 72 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | CLP1 CL E G H | 10978 | 16999 | OMIM:615803 | Pontocerebellar hypoplasia, type 10 | . | | | 7 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | CNTNAP2 CL E G H | 26047 | 13830 | ORPHA:163681 | CNTNAP2-related developmental and epileptic encephalopathy | | | | 518 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | COX10 CL E G H | 1352 | 2260 | OMIM:619046 | MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3 | | | | 82 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | CUX2 CL E G H | 23316 | 19347 | OMIM:618141 | Epileptic encephalopathy, early infantile, 67 | . | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:468620 | Intellectual disability-epilepsy-extrapyramidal syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | DEAF1 CL E G H | 10522 | 14677 | OMIM:615828 | Mental retardation, autosomal dominant 24 | . | | | 33 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | 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:0000758 | HP:0000817 | Poor eye contact | 2 | DOLK CL E G H | 22845 | 23406 | ORPHA:91131 | DK1-CDG | | | | 55 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | FMR1 CL E G H | 2332 | 3775 | OMIM:300624 | Fragile X mental retardation syndrome | . | | | 30 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | FOXG1 CL E G H | 2290 | 3811 | OMIM:613454 | Rett syndrome, congenital variant | . | | | 177 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | FOXRED1 CL E G H | 55572 | 26927 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 61 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GABRA2 CL E G H | 2555 | 4076 | OMIM:618557 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78; DEE78 | | | | 4 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GALNT2 CL E G H | 2590 | 4124 | OMIM:618885 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T | | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GFM1 CL E G H | 85476 | 13780 | OMIM:609060 | Combined oxidative phosphorylation deficiency 1 | . | | | 85 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GFM2 CL E G H | 84340 | 29682 | ORPHA:565624 | Combined oxidative phosphorylation defect type 39 | HP:0040282 - Frequent | | | 43 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GLS CL E G H | 2744 | 4331 | OMIM:618339 | Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development | | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GNB5 CL E G H | 10681 | 4401 | ORPHA:542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | . | | | 18 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GRIN1 CL E G H | 2902 | 4584 | OMIM:617820 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | . | | | 108 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GRIN2B CL E G H | 2904 | 4586 | OMIM:616139 | Epileptic encephalopathy, early infantile, 27 | | | | 274 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | GUF1 CL E G H | 60558 | 25799 | OMIM:617065 | Epileptic encephalopathy, early infantile, 40 | | | | 2 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | IREB2 CL E G H | 3658 | 6115 | OMIM:618451 | Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia | . | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | KCNT1 CL E G H | 57582 | 18865 | OMIM:614959 | Epileptic encephalopathy, early infantile, 14 | HP:0040283 - Occasional | | | 321 | | |
HP:0000758 | HP:4000076 | Hand-leading gestures | 2 | KMT5B CL E G H | 51111 | 24283 | OMIM:617788 | Mental retardation, autosomal dominant 51 | | | | 2 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | MDH2 CL E G H | 4191 | 6971 | OMIM:617339 | Epileptic encephalopathy, early infantile, 51 | | | | 4 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | MECP2 CL E G H | 4204 | 6990 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 950 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | | | | 950 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | . | | | 132 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | MICOS13 CL E G H | 125988 | 33702 | OMIM:618329 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37 | | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ND1 CL E G H | 4535 | 7455 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ND2 CL E G H | 4536 | 7456 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ND3 CL E G H | 4537 | 7458 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDE1 CL E G H | 54820 | 17619 | OMIM:605013 | MICROHYDRANENCEPHALY | | | | 96 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFA1 CL E G H | 4694 | 7683 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 7 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFA11 CL E G H | 126328 | 20371 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 32 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFA13 CL E G H | 51079 | 17194 | OMIM:618249 | Mitochondrial complex I deficiency, nuclear type 28 | . | | | 3 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFA6 CL E G H | 4700 | 7690 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFAF1 CL E G H | 51103 | 18828 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 40 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFAF2 CL E G H | 91942 | 28086 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 26 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 31 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFAF3 CL E G H | 25915 | 29918 | OMIM:618240 | Mitochondrial complex I deficiency, nuclear type 18 | . | | | 31 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFAF4 CL E G H | 29078 | 21034 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFAF4 CL E G H | 29078 | 21034 | OMIM:618237 | Mitochondrial complex I deficiency, nuclear type 15 | . | | | 50 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFAF5 CL E G H | 79133 | 15899 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 34 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFAF8 CL E G H | 284184 | 33551 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFB10 CL E G H | 4716 | 7696 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 3 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFB3 CL E G H | 4709 | 7698 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 9 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFB9 CL E G H | 4715 | 7704 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 16 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFC2 CL E G H | 4718 | 7706 | OMIM:619170 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36 | | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFS1 CL E G H | 4719 | 7707 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 81 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 65 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFS3 CL E G H | 4722 | 7710 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 22 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFS4 CL E G H | 4724 | 7711 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFS4 CL E G H | 4724 | 7711 | OMIM:252010 | Mitochondrial complex I deficiency, nuclear type 1 | | | | 27 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFS6 CL E G H | 4726 | 7713 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 21 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFS7 CL E G H | 374291 | 7714 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 38 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFS8 CL E G H | 4728 | 7715 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 42 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFV1 CL E G H | 4723 | 7716 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 74 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NDUFV2 CL E G H | 4729 | 7717 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 27 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NEUROD2 CL E G H | 4761 | 7763 | OMIM:618374 | Epileptic encephalopathy, early infantile, 72 | . | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NTNG1 CL E G H | 22854 | 23319 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NTRK2 CL E G H | 4915 | 8032 | OMIM:613886 | Obesity, hyperphagia, and developmental delay | . | | | 8 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | NUBPL CL E G H | 80224 | 20278 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 89 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | PIGP CL E G H | 51227 | 3046 | OMIM:617599 | Epileptic encephalopathy, early infantile, 55 | | | | 2 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | . | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | RARS1 CL E G H | 5917 | 9870 | ORPHA:438114 | RARS-related autosomal recessive hypomyelinating leukodystrophy | HP:0040282 - Frequent | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | SLC25A1 CL E G H | 6576 | 10979 | OMIM:615182 | Combined d-2- and l-2-hydroxyglutaric aciduria | . | | | 28 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | SLC25A12 CL E G H | 8604 | 10982 | OMIM:612949 | Epileptic encephalopathy, early infantile, 39 | . | | | 44 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | SMC1A CL E G H | 8243 | 11111 | ORPHA:3095 | Atypical Rett syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | 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:0000758 | HP:0000817 | Poor eye contact | 2 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | ST3GAL3 CL E G H | 6487 | 10866 | OMIM:615006 | Epileptic encephalopathy, early infantile, 15 | . | | | 41 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | SYT1 CL E G H | 6857 | 11509 | ORPHA:522077 | Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | TARS2 CL E G H | 80222 | 30740 | OMIM:615918 | Combined oxidative phosphorylation deficiency 21 | | | | 28 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | TBC1D23 CL E G H | 55773 | 25622 | OMIM:617695 | Pontocerebellar hypoplasia, type 11 | . | | | | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | TIMMDC1 CL E G H | 51300 | 1321 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 1 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | TMEM126B CL E G H | 55863 | 30883 | ORPHA:2609 | Isolated complex I deficiency | HP:0040281 - Very frequent | | | 4 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | TWNK CL E G H | 56652 | 1160 | OMIM:271245 | Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | . | | | 113 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | UBA5 CL E G H | 79876 | 23230 | OMIM:617132 | Epileptic encephalopathy, early infantile, 44 | . | | | 13 | | |
HP:0000758 | HP:0000817 | Poor eye contact | 2 | UGP2 CL E G H | 7360 | 12527 | OMIM:618744 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83; DEE83 | | | | | | |