Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:79134 | DEND syndrome | HP:0040283 - Occasional | | | 245 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 245 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | AFF4 CL E G H | 27125 | 17869 | OMIM:616368 | CHOPS syndrome | . | | | 6 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040282 - Frequent | | | 132 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ASH1L CL E G H | 55870 | 19088 | OMIM:617796 | Mental retardation, autosomal dominant 52 | | | | 1 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 239 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 150 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | . | | | 10 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 449 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CCDC47 CL E G H | 57003 | 24856 | OMIM:618268 | Trichohepatoneurodevelopmental syndrome | . | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | | | | 8 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CDK5 CL E G H | 1020 | 1774 | OMIM:616342 | Lissencephaly 7 with cerebellar hypoplasia | | | | 3 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | COLEC10 CL E G H | 10584 | 2220 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | COLEC11 CL E G H | 78989 | 17213 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CSNK2B CL E G H | 1460 | 2460 | OMIM:618732 | POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS | | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | DHX37 CL E G H | 57647 | 17210 | OMIM:618731 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC | | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | EEF1A2 CL E G H | 1917 | 3192 | OMIM:616393 | Mental retardation, autosomal dominant 38 | . | | | 60 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | EHMT1 CL E G H | 79813 | 24650 | ORPHA:96147 | Kleefstra syndrome due to 9q34 microdeletion | HP:0040282 - Frequent | | | 223 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | EIF2S3 CL E G H | 1968 | 3267 | ORPHA:85282 | MEHMO syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040282 - Frequent | | | 102 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | . | | | 7 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 237 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | GK CL E G H | 2710 | 4289 | OMIM:307030 | Glycerol kinase deficiency | . | | | 13 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | GMPPA CL E G H | 29926 | 22923 | OMIM:615510 | Alacrima, achalasia, and mental retardation syndrome | | | | 24 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | . | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040282 - Frequent | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | H19-ICR CL E G H | 105259599 | | OMIM:180860 | Silver-Russell syndrome | . | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | H4C11 CL E G H | 8363 | 4785 | OMIM:619759 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2 | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HACE1 CL E G H | 57531 | 21033 | ORPHA:464282 | Spastic paraplegia-severe developmental delay-epilepsy syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HDAC4 CL E G H | 9759 | 14063 | ORPHA:1001 | 2q37 microdeletion syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | | | | 37 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HNRNPK CL E G H | 3190 | 5044 | OMIM:616580 | Au-Kline syndrome | . | | | 8 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:352665 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion | HP:0040282 - Frequent | | | 8 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HNRNPK CL E G H | 3190 | 5044 | ORPHA:453504 | Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation | HP:0040282 - Frequent | | | 8 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | . | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | HS6ST2 CL E G H | 90161 | 19133 | OMIM:301025 | Paganini-Miozzo syndrome | . | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:180860 | Silver-Russell syndrome | . | | | 9 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 62 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | . | | | 34 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KAT8 CL E G H | 84148 | 17933 | OMIM:618974 | LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:611816 | Temple-Baraitser syndrome | . | | | 13 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:79134 | DEND syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KCNJ11 CL E G H | 3767 | 6257 | OMIM:618856 | DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2 | | | | 127 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 127 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KDM4B CL E G H | 23030 | 29136 | OMIM:619320 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65 | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:94063 | 12q14 microdeletion syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | LMBR1 CL E G H | 64327 | 13243 | ORPHA:2378 | Laurin-Sandrow syndrome | HP:0040283 - Occasional | | | 106 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:2774 | Multicentric carpo-tarsal osteolysis with or without nephropathy | HP:0040283 - Occasional | | | 63 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MASP1 CL E G H | 5648 | 6901 | ORPHA:293843 | 3MC syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | . | | | 132 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | MYMX CL E G H | 101929726 | 52391 | OMIM:619941 | | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NARS2 CL E G H | 79731 | 26274 | ORPHA:79134 | DEND syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 494 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NIPBL CL E G H | 25836 | 28862 | OMIM:122470 | Cornelia de Lange syndrome 1 | . | | | 494 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NOVA2 CL E G H | 4858 | 7887 | OMIM:618859 | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NTNG2 CL E G H | 84628 | 14288 | OMIM:618718 | NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 121 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PACS1 CL E G H | 55690 | 30032 | OMIM:615009 | Schuurs-Hoeijmakers syndrome | . | | | 24 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PACS2 CL E G H | 23241 | 23794 | OMIM:618067 | Epileptic encephalopathy, early infantile, 66 | . | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 30 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PGAP2 CL E G H | 27315 | 17893 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PGAP3 CL E G H | 93210 | 23719 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 20 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PHF21A CL E G H | 51317 | 24156 | ORPHA:52022 | Potocki-Shaffer syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGL CL E G H | 9487 | 8966 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGO CL E G H | 84720 | 23215 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 84 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGQ CL E G H | 9091 | 14135 | OMIM:618548 | MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4 | | | | 3 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615398 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | . | | | 12 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGV CL E G H | 55650 | 26031 | OMIM:239300 | Hyperphosphatasia with mental retardation | | | | 57 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGV CL E G H | 55650 | 26031 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGW CL E G H | 284098 | 23213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIGY CL E G H | 84992 | 28213 | ORPHA:247262 | Hyperphosphatasia-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PLOD3 CL E G H | 8985 | 9083 | OMIM:612394 | Bone fragility with contractures, arterial rupture, and deafness | . | | | 5 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | . | | | 35 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | RAB18 CL E G H | 22931 | 14244 | OMIM:614222 | Warburg micro syndrome 3 | . | | | 85 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:616651 | Roifman syndrome | . | | | 15 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:353298 | Roifman syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040281 - Very frequent | | | 120 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SETD5 CL E G H | 55209 | 25566 | ORPHA:404440 | Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency | HP:0040282 - Frequent | | | 43 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SETD5 CL E G H | 55209 | 25566 | OMIM:615761 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23 | | | | 43 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SHMT2 CL E G H | 6472 | 10852 | OMIM:619121 | NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:398079 | SIM1-related Prader-Willi-like syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SLC1A3 CL E G H | 6507 | 10941 | ORPHA:2131 | Alternating hemiplegia of childhood | HP:0040283 - Occasional | | | 63 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SMARCD1 CL E G H | 6602 | 11106 | OMIM:618779 | COFFIN-SIRIS SYNDROME 11; CSS11 | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 135 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:300590 | Cornelia de Lange syndrome 2 | . | | | 135 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040281 - Very frequent | | | 91 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SMC3 CL E G H | 9126 | 2468 | OMIM:610759 | Cornelia de Lange syndrome 3 | | | | 91 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 37 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040282 - Frequent | | | 37 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:136140 | Floating-Harbor syndrome | . | | | 138 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | . | | | 14 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | STAC3 CL E G H | 246329 | 28423 | ORPHA:168572 | Native American myopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 110 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040282 - Frequent | | | 271 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TBL1XR1 CL E G H | 79718 | 29529 | OMIM:616944 | Mental retardation, autosomal dominant 41 | | | | 22 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TCF20 CL E G H | 6942 | 11631 | OMIM:618430 | Developmental delay with variable intellectual impairment and behavioral abnormalities | . | | | 1 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TRAPPC9 CL E G H | 83696 | 30832 | ORPHA:352530 | Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 158 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | HP:0040283 - Occasional | | | 158 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TRIP12 CL E G H | 9320 | 12306 | OMIM:617752 | Mental retardation, autosomal dominant 49 | . | | | 2 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | TWIST2 CL E G H | 117581 | 20670 | ORPHA:1807 | Focal facial dermal dysplasia type III | HP:0040281 - Very frequent | | | 7 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | UBE2A CL E G H | 7319 | 12472 | OMIM:300860 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN | | | | 7 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040282 - Frequent | | | 7 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | . | | | 20 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | WDR37 CL E G H | 22884 | 31406 | OMIM:618652 | NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | WDR4 CL E G H | 10785 | 12756 | OMIM:618347 | Galloway-Mowat syndrome 6 | . | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ZMYM2 CL E G H | 7750 | 12989 | OMIM:619522 | NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ZNF407 CL E G H | 55628 | 19904 | OMIM:619557 | SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA | | | | 68 | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0002714 | HP:0002714 | Downturned corners of mouth | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |