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:0012745 | HP:0012745 | Short palpebral fissure | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | ALDH1A3 CL E G H | 220 | 409 | OMIM:615113 | Microphthalmia, isolated 8 | | | | 10 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040282 - Frequent | | | 61 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | . | | | 61 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:617237 | Immunodeficiency 49 | . | | | 3 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 5769 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 7642 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 1086 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | . | | | 8 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | CHD4 CL E G H | 1108 | 1919 | OMIM:617159 | Sifrim-Hitz-Weiss syndrome | . | | | 14 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040281 - Very frequent | | | 35 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | CLTCL1 CL E G H | 8218 | 2093 | ORPHA:453510 | Congenital insensitivity to pain with severe intellectual disability | HP:0040283 - Occasional | | | 6 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | DCHS1 CL E G H | 8642 | 13681 | OMIM:601390 | Van maldergem syndrome 1 | . | | | 27 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 158 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | EXOSC2 CL E G H | 23404 | 17097 | OMIM:617763 | Short stature, hearing loss, retinitis pigmentosa, and distinctive facies | . | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 340 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 58 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 410 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 147 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 73 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 87 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 73 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 157 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 53 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 107 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:615546 | Van maldergem syndrome 2 | . | | | 114 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | HNRNPH2 CL E G H | 3188 | 5042 | OMIM:300986 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB | | | | 3 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | . | | | 98 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363958 | 17q21.31 microdeletion syndrome | HP:0040282 - Frequent | | | 283 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | KANSL1 CL E G H | 284058 | 24565 | ORPHA:363965 | Koolen-De Vries syndrome due to a point mutation | HP:0040282 - Frequent | | | 283 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | HP:0040281 - Very frequent | | | 141 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | KIF15 CL E G H | 56992 | 17273 | ORPHA:261323 | 21q22.11q22.12 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | KMT2A CL E G H | 4297 | 7132 | ORPHA:319182 | Wiedemann-Steiner syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:3339 | Toriello-Lacassie-Droste syndrome | HP:0040282 - Frequent | | | 196 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040281 - Very frequent | | | 63 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | 1 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | . | | | 37 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040282 - Frequent | | | 37 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | . | | | 35 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | MYCN CL E G H | 4613 | 7559 | ORPHA:391641 | Feingold syndrome type 1 | HP:0040282 - Frequent | | | 35 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | NUAK2 CL E G H | 81788 | 29558 | OMIM:619452 | ANENCEPHALY 2; ANPH2 | | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 1349 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | POLR1A CL E G H | 25885 | 17264 | ORPHA:1200 | Burn-McKeown syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | PPP1R12A CL E G H | 4659 | 7618 | OMIM:618820 | GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS | | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | PRKAR1B CL E G H | 5575 | 9390 | OMIM:619680 | MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS | | | | 2 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 9 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 391 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | RBM10 CL E G H | 8241 | 9896 | ORPHA:2886 | TARP syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | RBPJ CL E G H | 3516 | 5724 | OMIM:614814 | Adams-Oliver syndrome 3 | HP:0040283 - Occasional | | | 3 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040282 - Frequent | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:959 | Acro-renal-ocular syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040281 - Very frequent | | | 86 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SLC2A10 CL E G H | 81031 | 13444 | ORPHA:3342 | Arterial tortuosity syndrome | HP:0040283 - Occasional | | | 178 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 274 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SLX4 CL E G H | 84464 | 23845 | OMIM:613951 | Fanconi anemia, complementation group P | HP:0040283 - Occasional | | | 274 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040282 - Frequent | | | 504 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:3051 | Nicolaides-Baraitser syndrome | HP:0040282 - Frequent | | | 146 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SMPD4 CL E G H | 55627 | 32949 | OMIM:618622 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA | | | | 1 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SOX11 CL E G H | 6664 | 11191 | OMIM:615866 | Mental retardation, autosomal dominant 27 | . | | | 14 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | . | | | 109 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | STAC3 CL E G H | 246329 | 28423 | OMIM:255995 | Myopathy, congenital, bailey-bloch | . | | | 14 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | STT3A CL E G H | 3703 | 6172 | OMIM:619714 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT; CDG1WAD | | | | 21 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | TBX15 CL E G H | 6913 | 11594 | OMIM:260660 | Cousin syndrome | . | | | 5 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | THOC6 CL E G H | 79228 | 28369 | OMIM:613680 | Beaulieu-Boycott-Innes syndrome | . | | | 1 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | . | | | 14 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | TXNL4A CL E G H | 10907 | 30551 | ORPHA:1200 | Burn-McKeown syndrome | HP:0040281 - Very frequent | | | 19 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | . | | | 19 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 2 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040282 - Frequent | | | 13 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | UGDH CL E G H | 7358 | 12525 | OMIM:618792 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84 | | | | | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | . | | | 27 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040282 - Frequent | | | 20 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040282 - Frequent | | | 125 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | | | | 16 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |
HP:0012745 | HP:0012745 | Short palpebral fissure | 0 | ZNF148 CL E G H | 7707 | 12933 | OMIM:617260 | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | . | | | 4 | | |