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:0000278 | HP:0000278 | Retrognathia | 0 | AARS1 CL E G H | 16 | 20 | OMIM:619691 | TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8 | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ABAT CL E G H | 18 | 23 | OMIM:613163 | GABA-transaminase deficiency | . | | | 120 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 94 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTB CL E G H | 60 | 132 | OMIM:243310 | Baraitser-Winter syndrome 1 | HP:0040283 - Occasional | | | 72 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040281 - Very frequent | | | 123 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ACTG1 CL E G H | 71 | 144 | OMIM:614583 | Baraitser-Winter syndrome 2 | HP:0040283 - Occasional | | | 123 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ADAMTS2 CL E G H | 9509 | 218 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ADAMTSL2 CL E G H | 9719 | 14631 | ORPHA:1901 | Dermatosparaxis Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 72 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ALG11 CL E G H | 440138 | 32456 | ORPHA:280071 | ALG11-CDG | HP:0040283 - Occasional | | | 41 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:263210 | Gillessen-Kaesbach-Nishimura syndrome | | | | 93 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | AP3D1 CL E G H | 8943 | 568 | OMIM:617050 | HERMANSKY-PUDLAK SYNDROME 10; HPS10 | | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | . | | | 3 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ARID2 CL E G H | 196528 | 18037 | OMIM:617808 | Coffin-siris syndrome 6 | | | | 25 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ASPH CL E G H | 444 | 757 | OMIM:601552 | Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs | . | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ASXL2 CL E G H | 55252 | 23805 | OMIM:617190 | Shashi-Pena syndrome | . | | | 7 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ATP6V1A CL E G H | 523 | 851 | OMIM:617403 | Cutis laxa, autosomal recessive, type IID | . | | | 3 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ATPAF2 CL E G H | 91647 | 18802 | OMIM:604273 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 1 | . | | | 32 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040283 - Occasional | | | 61 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 5 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | BCL11A CL E G H | 53335 | 13221 | OMIM:617101 | Intellectual developmental disorder with persistence of fetal hemoglobin | . | | | 11 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040282 - Frequent | | | 314 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | BNC2 CL E G H | 54796 | 30988 | ORPHA:93110 | Posterior urethral valve | HP:0040284 - Very rare | | | 22 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | BRCC3 CL E G H | 79184 | 24185 | ORPHA:280679 | Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CARS1 CL E G H | 833 | 1493 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CCDC88A CL E G H | 55704 | 25523 | OMIM:617507 | Peho-Like syndrome | . | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CENPJ CL E G H | 55835 | 17272 | OMIM:613676 | Seckel syndrome 4 | . | | | 161 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | | | | 7 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CEP135 CL E G H | 9662 | 29086 | OMIM:614673 | Microcephaly 8, primary, autosomal recessive | . | | | 38 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CEP152 CL E G H | 22995 | 29298 | OMIM:613823 | Seckel syndrome 5 | | | | 146 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | | | | 27 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 27 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | | | 165 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COG5 CL E G H | 10466 | 14857 | ORPHA:263487 | COG5-CDG | HP:0040283 - Occasional | | | 79 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COG6 CL E G H | 57511 | 18621 | OMIM:614576 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L | | | | 71 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COL13A1 CL E G H | 1305 | 2190 | OMIM:616720 | Myasthenic syndrome, congenital, 19 | . | | | 6 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 373 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COL1A2 CL E G H | 1278 | 2198 | ORPHA:1899 | Arthrochalasia Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 243 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:200610 | Achondrogenesis, type II | | | | 284 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | . | | | 749 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CREB3L1 CL E G H | 90993 | 18856 | OMIM:616229 | Osteogenesis imperfecta, type XVI | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | . | | | 291 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:617915 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome | . | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | | | | 15 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | CTU2 CL E G H | 348180 | 28005 | OMIM:618142 | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome | . | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DDB1 CL E G H | 1642 | 2717 | OMIM:619426 | WHITE-KERNOHAN SYNDROME; WHIKERS | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DIS3L2 CL E G H | 129563 | 28648 | ORPHA:2849 | Perlman syndrome | HP:0040281 - Very frequent | | | 164 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 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:0000278 | HP:0000278 | Retrognathia | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | | | | 13 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DSTYK CL E G H | 25778 | 29043 | OMIM:270750 | Spastic paraplegia 23 | . | | | 13 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:268261 | DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion | HP:0040283 - Occasional | | | 134 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | | | | 51 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EDEM3 CL E G H | 80267 | 16787 | OMIM:619493 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EDN1 CL E G H | 1906 | 3176 | OMIM:615706 | Auriculocondylar syndrome 3 | . | | | 6 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 172 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | . | | | 250 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:613684 | Rubinstein-Taybi syndrome 2 | . | | | 250 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 106 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ERCC2 CL E G H | 2068 | 3434 | OMIM:601675 | Trichothiodystrophy 1, photosensitive | . | | | 106 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 54 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | . | | | 12 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EXOC7 CL E G H | 23265 | 23214 | OMIM:619072 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY; NEDSEBA | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EXOSC5 CL E G H | 56915 | 24662 | OMIM:619576 | CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EYA1 CL E G H | 2138 | 3519 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EYA1 CL E G H | 2138 | 3519 | OMIM:602588 | Branchiootic syndrome 1 | . | | | 135 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 81 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | HP:0040281 - Very frequent | | | 35 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:3412 | VACTERL with hydrocephalus | HP:0040283 - Occasional | | | 58 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040283 - Occasional | | | 36 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 1361 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | . | | | 1361 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040281 - Very frequent | | | 1361 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBXO31 CL E G H | 79791 | 16510 | OMIM:615979 | Mental retardation, autosomal recessive 45 | | | | 8 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FBXW11 CL E G H | 23291 | 13607 | OMIM:618914 | NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FDFT1 CL E G H | 2222 | 3629 | OMIM:618156 | SQUALENE SYNTHASE DEFICIENCY; SQSD | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FHL1 CL E G H | 2273 | 3702 | OMIM:300280 | Uruguay faciocardiomusculoskeletal syndrome | . | | | 68 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FOXE1 CL E G H | 2304 | 3806 | ORPHA:1226 | Bamforth-Lazarus syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 23 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FOXF1 CL E G H | 2294 | 3809 | OMIM:265380 | Alveolar capillary dysplasia with misalignment of pulmonary veins | | | | 61 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040283 - Occasional | | | 184 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FRMPD4 CL E G H | 9758 | 29007 | OMIM:300983 | MENTAL RETARDATION, X-LINKED 104; MRX104 | | | | 32 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | . | | | 70 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GLDN CL E G H | 342035 | 29514 | OMIM:617194 | Lethal congenital contracture syndrome 11 | HP:0040283 - Occasional | | | 6 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | | | | 270 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GTF2E2 CL E G H | 2961 | 4651 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | GTF2H5 CL E G H | 404672 | 21157 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | H4C5 CL E G H | 8367 | 4790 | OMIM:619950 | | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HDAC8 CL E G H | 55869 | 13315 | OMIM:300882 | Cornelia de Lange syndrome 5 | . | | | 37 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HPDL CL E G H | 84842 | 28242 | OMIM:619026 | NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HS2ST1 CL E G H | 9653 | 5193 | OMIM:619194 | NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HSD17B4 CL E G H | 3295 | 5213 | OMIM:261515 | D-bifunctional protein deficiency | | | | 98 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040281 - Very frequent | | | 31 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IBA57 CL E G H | 200205 | 27302 | OMIM:615330 | Multiple mitochondrial dysfunctions syndrome 3 | . | | | 16 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IGBP1 CL E G H | 3476 | 5461 | ORPHA:52055 | Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:616489 | Growth restriction, severe, with distinctive facies | . | | | 9 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | INTU CL E G H | 27152 | 29239 | OMIM:617926 | OROFACIODIGITAL SYNDROME XVII; OFD17 | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ITGA8 CL E G H | 8516 | 6144 | OMIM:191830 | Renal hypodysplasia/aplasia 1 | . | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | | | | 34 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KAT6B CL E G H | 23522 | 17582 | ORPHA:3047 | Blepharophimosis-intellectual disability syndrome, SBBYS type | HP:0040281 - Very frequent | | | 141 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 10 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KIF15 CL E G H | 56992 | 17273 | OMIM:619981 | | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040281 - Very frequent | | | 167 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KMT2B CL E G H | 9757 | 15840 | OMIM:619934 | | | | | 11 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | . | | | 13 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | . | | | 6 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 645 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:212112 | Malouf syndrome | . | | | 645 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:619793 | RESTRICTIVE DERMOPATHY 2; RSDM2 | | | | 645 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 6 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MAMLD1 CL E G H | 10046 | 2568 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 13 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 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:0000278 | HP:0000278 | Retrognathia | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | HP:0040283 - Occasional | | | 13 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MESD CL E G H | 23184 | 13520 | OMIM:618644 | OSTEOGENESIS IMPERFECTA, TYPE XX; OI20 | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 11 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MOGS CL E G H | 7841 | 24862 | OMIM:606056 | Congenital disorder of glycosylation, type IIB | . | | | 37 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MOGS CL E G H | 7841 | 24862 | ORPHA:79330 | MOGS-CDG | HP:0040282 - Frequent | | | 37 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MPLKIP CL E G H | 136647 | 16002 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 9 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MPLKIP CL E G H | 136647 | 16002 | OMIM:234050 | Trichothiodystrophy 4, nonphotosensitive | HP:0040283 - Occasional | | | 9 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MRPS22 CL E G H | 56945 | 14508 | OMIM:611719 | Combined oxidative phosphorylation deficiency 5 | . | | | 25 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MSL3 CL E G H | 10943 | 7370 | OMIM:301032 | BASILICATA-AKHTAR SYNDROME; MRXSBA | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:456328 | X-linked myotubular myopathy-abnormal genitalia syndrome | HP:0040283 - Occasional | | | 185 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 418 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | | | | 1269 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 326 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | | | | 23 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NBN CL E G H | 4683 | 7652 | ORPHA:647 | Nijmegen breakage syndrome | HP:0040281 - Very frequent | | | 706 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 96 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NEPRO CL E G H | 25871 | 24496 | OMIM:618853 | ANAUXETIC DYSPLASIA 3; ANXD3 | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:561 | Marshall-Smith syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NR2F1 CL E G H | 7025 | 7975 | OMIM:615722 | Bosch-Boonstra-Schaaf optic atrophy syndrome | | | | 37 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 544 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NSDHL CL E G H | 50814 | 13398 | OMIM:300831 | Ck syndrome | . | | | 34 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | | | | 34 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NUDT2 CL E G H | 318 | 8049 | OMIM:619844 | | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | NUP88 CL E G H | 4927 | 8067 | OMIM:618393 | Fetal akinesia deformation sequence 4 | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | | | | 23 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | | | | 201 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | | | | 39 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | OTUD6B CL E G H | 51633 | 24281 | ORPHA:505237 | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | OTUD6B CL E G H | 51633 | 24281 | OMIM:617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040282 - Frequent | | | 531 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PIK3C2A CL E G H | 5286 | 8971 | ORPHA:557003 | Oculocerebrodental syndrome | HP:0040283 - Occasional | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040282 - Frequent | | | 150 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLA1 CL E G H | 5422 | 9173 | OMIM:301030 | Van esch-o'driscoll syndrome | | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLA1 CL E G H | 5422 | 9173 | ORPHA:163976 | X-linked intellectual disability, Van Esch type | HP:0040281 - Very frequent | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLR1A CL E G H | 25885 | 17264 | OMIM:616462 | Acrofacial dysostosis, Cincinnati type | . | | | 8 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 38 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLR1D CL E G H | 51082 | 20422 | OMIM:613717 | Treacher collins syndrome 2 | | | | 31 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619909 | | | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 41 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PRMT7 CL E G H | 54496 | 25557 | OMIM:617157 | Short stature, brachydactyly, intellectual developmental disability, and seizures | . | | | 6 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PSMD12 CL E G H | 5718 | 9557 | OMIM:617516 | Stankiewicz-Isidor syndrome | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | | | | 19 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | | | | 19 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | PUS7 CL E G H | 54517 | 26033 | OMIM:618342 | Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RARB CL E G H | 5915 | 9865 | OMIM:615524 | Microphthalmia, syndromic 12 | . | | | 9 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RBBP8 CL E G H | 5932 | 9891 | OMIM:251255 | Jawad syndrome | . | | | 68 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | | | | 334 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RNF113A CL E G H | 7737 | 12974 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | ORPHA:2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | HP:0040281 - Very frequent | | | 15 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | | | | 10 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | . | | | 40 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618022 | Humerofemoral hypoplasia with radiotibial ray deficiency | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RSRC1 CL E G H | 51319 | 24152 | OMIM:618402 | Intellectual developmental disorder, autosomal recessive 70 | . | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 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:0000278 | HP:0000278 | Retrognathia | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SEC24D CL E G H | 9871 | 10706 | OMIM:616294 | Cole-Carpenter syndrome 2 | | | | 5 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | | | | 144 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | | | | 6 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | | | | 49 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SIX1 CL E G H | 6495 | 10887 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 50 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SIX5 CL E G H | 147912 | 10891 | ORPHA:107 | BOR syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:2462 | Shprintzen-Goldberg syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC35A3 CL E G H | 23443 | 11023 | OMIM:615553 | Arthrogryposis, mental retardation, and seizures | | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SLC6A9 CL E G H | 6536 | 11056 | OMIM:617301 | Glycine encephalopathy with normal serum glycine | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 7 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:284984 | Aneurysm-osteoarthritis syndrome | HP:0040283 - Occasional | | | 260 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 260 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 504 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMC1A CL E G H | 8243 | 11111 | OMIM:301044 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85 | | | | 135 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177907 | Prader-Willi syndrome due to translocation | HP:0040283 - Occasional | | | 37 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SPATA5 CL E G H | 166378 | 18119 | ORPHA:457351 | Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 20 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SPEG CL E G H | 10290 | 16901 | OMIM:615959 | Myopathy, centronuclear, 5 | . | | | 20 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SPEN CL E G H | 23013 | 17575 | OMIM:619312 | RADIO-TARTAGLIA SYNDROME; RATARS | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TARS1 CL E G H | 6897 | 11572 | ORPHA:33364 | Trichothiodystrophy | HP:0040283 - Occasional | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | . | | | 32 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | | | | 12 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 162 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFB2 CL E G H | 7042 | 11768 | OMIM:614816 | LOEYS-DIETZ SYNDROME 4; LDS4 | | | | 162 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 85 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 239 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040283 - Occasional | | | 253 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | | | | 63 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TMEM70 CL E G H | 54968 | 26050 | ORPHA:1194 | TMEM70-related mitochondrial encephalo-cardio-myopathy | HP:0040282 - Frequent | | | 63 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TNPO2 CL E G H | 30000 | 19998 | OMIM:619556 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TRIO CL E G H | 7204 | 12303 | OMIM:617061 | Mental retardation, autosomal dominant 44 | | | | 8 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:166272 | Odontochondrodysplasia | HP:0040283 - Occasional | | | 133 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040282 - Frequent | | | 7128 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | | | | 7128 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | UBE3B CL E G H | 89910 | 13478 | ORPHA:2707 | Oculocerebrofacial syndrome, Kaufman type | HP:0040281 - Very frequent | | | 13 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | WDR35 CL E G H | 57539 | 29250 | OMIM:613610 | Cranioectodermal dysplasia 2 | . | | | 136 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ZBTB24 CL E G H | 9841 | 21143 | OMIM:614069 | Immunodeficiency-Centromeric instability-facial anomalies syndrome2 | . | | | 9 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |
HP:0000278 | HP:0000278 | Retrognathia | 0 | ZNHIT3 CL E G H | 9326 | 12309 | OMIM:260565 | Peho syndrome | | | | 1 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 127 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ALG13 CL E G H | 79868 | 30881 | OMIM:300884 | Epileptic encephalopathy, early infantile, 36 | | | | 96 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:278250 | Wrinkly skin syndrome | | | | 140 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 5 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | BANF1 CL E G H | 8815 | 17397 | OMIM:614008 | Nestor-Guillermo progeria syndrome | | | | 22 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | | | | 85 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | . | | | 7 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CEP55 CL E G H | 55165 | 1161 | OMIM:236500 | Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly | | | | 2 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 65 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | HP:0003593 - Infantile onset | | 27 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | HP:0040283 - Occasional | | | 165 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 6 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | COL2A1 CL E G H | 1280 | 2200 | OMIM:200610 | Achondrogenesis, type II | | | | 284 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CREB3L1 CL E G H | 90993 | 18856 | OMIM:616229 | Osteogenesis imperfecta, type XVI | | | | 4 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CRIPT CL E G H | 9419 | 14312 | OMIM:615789 | Short stature with microcephaly and distinctive facies | . | | | 4 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CSGALNACT1 CL E G H | 55790 | 24290 | OMIM:618870 | SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA | | | | | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | CTNND2 CL E G H | 1501 | 2516 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 15 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | . | | | 51 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | . | | | 4 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | FBXL3 CL E G H | 26224 | 13599 | OMIM:606220 | Intellectual developmental disorder with short stature, facial anomalies, and speech defects | . | | | | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | GAD1 CL E G H | 2571 | 4092 | OMIM:619124 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89; DEE89 | | | | 44 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:672 | Pallister-Hall syndrome | HP:0040283 - Occasional | | | 270 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | GMNN CL E G H | 51053 | 17493 | OMIM:616835 | Meier-Gorlin syndrome 6 | | | | 3 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | IPO8 CL E G H | 10526 | 9853 | OMIM:619472 | VISS syndrome | | | | | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | . | | | 34 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | KAT6A CL E G H | 7994 | 13013 | ORPHA:457193 | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 10 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | KCNK9 CL E G H | 51305 | 6283 | OMIM:612292 | BIRK-BAREL SYNDROME | | | | 4 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:619793 | RESTRICTIVE DERMOPATHY 2; RSDM2 | | | | 645 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 1269 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NAA10 CL E G H | 8260 | 18704 | ORPHA:276432 | Ogden syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 96 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NSDHL CL E G H | 50814 | 13398 | ORPHA:251383 | CK syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | NSMCE2 CL E G H | 286053 | 26513 | OMIM:617253 | Seckel syndrome 10 | | | | 2 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:311200 | Orofaciodigital syndrome I | . | | | 201 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PAX1 CL E G H | 5075 | 8615 | OMIM:615560 | Otofaciocervical syndrome 2 | | | | 3 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | POLR1D CL E G H | 51082 | 20422 | OMIM:613717 | Treacher collins syndrome 2 | | | | 31 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619909 | | | | | 2 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PRORP CL E G H | 9692 | 19958 | OMIM:619737 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54 | | | | | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040282 - Frequent | | | 334 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RSPO2 CL E G H | 340419 | 28583 | OMIM:618021 | Tetraamelia syndrome 2 | . | | | | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SEC24D CL E G H | 9871 | 10706 | OMIM:616294 | Cole-Carpenter syndrome 2 | . | | | 5 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SEMA5A CL E G H | 9037 | 10736 | ORPHA:281 | Monosomy 5p | HP:0040281 - Very frequent | | | 6 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SF3B4 CL E G H | 10262 | 10771 | ORPHA:1788 | Acrofacial dysostosis, RodrÃguez type | HP:0040281 - Very frequent | | | 49 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | . | | | 9 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SLC10A7 CL E G H | 84068 | 23088 | OMIM:618363 | Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis | . | | | | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 28 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SLC35A3 CL E G H | 23443 | 11023 | OMIM:615553 | Arthrogryposis, mental retardation, and seizures | . | | | 2 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 9 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 4 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TELO2 CL E G H | 9894 | 29099 | ORPHA:488642 | TELO2-related intellectual disability-neurodevelopmental disorder | HP:0040283 - Occasional | | | 12 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TMEM70 CL E G H | 54968 | 26050 | OMIM:614052 | Mitochondrial complex V (atp synthase) deficiency, nuclear type 2 | . | | | 63 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TTN CL E G H | 7273 | 12403 | ORPHA:324604 | Classic multiminicore myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | TXNDC15 CL E G H | 79770 | 20652 | OMIM:619879 | | | | | 2 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040284 - Very rare | | | 2 | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | YARS1 CL E G H | 8565 | 12840 | OMIM:619418 | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2 | | | | | | |
HP:0000278 | HP:0000308 | Microretrognathia | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |