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:0000160 | HP:0000160 | Narrow mouth | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | AKT1 CL E G H | 207 | 391 | OMIM:615109 | Cowden syndrome 6 | . | | | 54 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | AKT3 CL E G H | 10000 | 393 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 19 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040282 - Frequent | | | 3179 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ATAD3A CL E G H | 55210 | 25567 | OMIM:618810 | PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL | | | | 5 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | . | | | 140 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | AUTS2 CL E G H | 26053 | 14262 | ORPHA:352490 | Autism spectrum disorder due to AUTS2 deficiency | HP:0040282 - Frequent | | | 61 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | AUTS2 CL E G H | 26053 | 14262 | OMIM:615834 | Mental retardation, autosomal dominant 26 | . | | | 61 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 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:0000160 | HP:0000160 | Narrow mouth | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 29 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | BBS7 CL E G H | 55212 | 18758 | OMIM:615984 | BARDET-BIEDL SYNDROME 7; BBS7 | | | | 66 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | BCL11B CL E G H | 64919 | 13222 | OMIM:618092 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES | . | | | 3 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | BCR CL E G H | 613 | 1014 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 99 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | BMP2 CL E G H | 650 | 1069 | ORPHA:261295 | 20p12.3 microdeletion syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | BMPR1A CL E G H | 657 | 1076 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 385 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | BPNT2 CL E G H | 54928 | 26019 | OMIM:614078 | Chondrodysplasia with joint dislocations, Gpapp type | . | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | BPTF CL E G H | 2186 | 3581 | OMIM:617755 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL | | | | 2 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | . | | | 10 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CACNA1C CL E G H | 775 | 1390 | OMIM:620029 | | | | | 572 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | HP:0040283 - Occasional | | | 34 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040284 - Very rare | | | 34 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CANT1 CL E G H | 124583 | 19721 | OMIM:251450 | Desbuquois dysplasia 1 | . | | | 85 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CASZ1 CL E G H | 54897 | 26002 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CAV1 CL E G H | 857 | 1527 | OMIM:606721 | Lipodystrophy, familial partial, type 7 | | | | 11 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CCND2 CL E G H | 894 | 1583 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CDC45 CL E G H | 8318 | 1739 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 9 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CDC45 CL E G H | 8318 | 1739 | OMIM:617063 | Meier-Gorlin syndrome 7 | . | | | 9 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CDC6 CL E G H | 990 | 1744 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CDK13 CL E G H | 8621 | 1733 | OMIM:617360 | Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder | . | | | 8 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CDT1 CL E G H | 81620 | 24576 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CDT1 CL E G H | 81620 | 24576 | OMIM:613804 | Meier-Gorlin syndrome 4 | . | | | 50 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CENPT CL E G H | 80152 | 25787 | OMIM:618702 | SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 515 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | HP:0003593 - Infantile onset | | 27 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CHST14 CL E G H | 113189 | 24464 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 27 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 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:0000160 | HP:0000160 | Narrow mouth | 0 | CHSY1 CL E G H | 22856 | 17198 | ORPHA:363417 | Temtamy preaxial brachydactyly syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CLCF1 CL E G H | 23529 | 17412 | ORPHA:1545 | Crisponi syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040283 - Occasional | | | 52 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COG7 CL E G H | 91949 | 18622 | ORPHA:79333 | COG7-CDG | | | | 64 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COG7 CL E G H | 91949 | 18622 | OMIM:608779 | Congenital disorder of glycosylation, type IIe | . | | | 64 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:2021 | Fibrochondrogenesis | HP:0040282 - Frequent | | | 215 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:228520 | Fibrochondrogenesis 1 | . | | | 215 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:2021 | Fibrochondrogenesis | HP:0040282 - Frequent | | | 222 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:132450 | Epiphyseal dysplasia, multiple, with myopia and conductive deafness | . | | | 284 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:89842 | Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form | HP:0040283 - Occasional | | | 263 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COL7A1 CL E G H | 1294 | 2214 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 263 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COL7A1 CL E G H | 1294 | 2214 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 263 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CRKL CL E G H | 1399 | 2363 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CRLF1 CL E G H | 9244 | 2364 | ORPHA:1545 | Crisponi syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CRLF1 CL E G H | 9244 | 2364 | OMIM:272430 | Crisponi/cold-induced sweating syndrome 1 | . | | | 24 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040283 - Occasional | | | 20 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | CTCF CL E G H | 10664 | 13723 | OMIM:615502 | Mental retardation, autosomal dominant 21 | | | | 20 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | DCPS CL E G H | 28960 | 29812 | OMIM:616459 | Al-Raqad syndrome | . | | | 5 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040282 - Frequent | | | 72 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | DONSON CL E G H | 29980 | 2993 | OMIM:251230 | Microcephaly-Micromelia syndrome | . | | | 9 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | DSE CL E G H | 29940 | 21144 | OMIM:615539 | Ehlers-Danlos syndrome, musculocontractural type, 2 | . | | | 13 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | DSE CL E G H | 29940 | 21144 | ORPHA:2953 | Musculocontractural Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ECEL1 CL E G H | 9427 | 3147 | OMIM:615065 | Arthrogryposis, distal, type 5D | | | | 37 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | EDN1 CL E G H | 1906 | 3176 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | EIF4A3 CL E G H | 9775 | 18683 | OMIM:268305 | Robin sequence with cleft mandible and limb anomalies | . | | | 4 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | . | | | 35 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FAT4 CL E G H | 79633 | 23109 | OMIM:616006 | HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2 | | | | 114 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:969 | Acromicric dysplasia | HP:0040282 - Frequent | | | 1361 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:102370 | Acromicric dysplasia | . | | | 1361 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FBXO11 CL E G H | 80204 | 13590 | OMIM:618089 | Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | . | | | 7 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:123790 | Beare-Stevenson cutis gyrata syndrome | | | | 175 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1555 | Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040281 - Very frequent | | | 493 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:311300 | Otopalatodigital syndrome, type I | . | | | 493 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | FREM2 CL E G H | 341640 | 25396 | OMIM:617666 | Fraser syndrome 2 | . | | | 263 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GMNN CL E G H | 51053 | 17493 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GNAI3 CL E G H | 2773 | 4387 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | | | | 2 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040283 - Occasional | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | GSC CL E G H | 145258 | 4612 | OMIM:602471 | Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities | . | | | 3 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | HEATR3 CL E G H | 55027 | 26087 | OMIM:620072 | | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | . | | | 13 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 345 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:224410 | Dyssegmental dysplasia, Silverman-Handmaker type | . | | | 345 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:1865 | Dyssegmental dysplasia, Silverman-Handmaker type | HP:0040283 - Occasional | | | 345 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040281 - Very frequent | | | 345 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | HSPG2 CL E G H | 3339 | 5273 | OMIM:255800 | Schwartz-jampel syndrome, type 1 | . | | | 345 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | HUWE1 CL E G H | 10075 | 30892 | OMIM:309590 | Mental retardation, x-linked syndromic, Turner type | | | | 98 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | IARS2 CL E G H | 55699 | 29685 | ORPHA:436174 | Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | | | | 25 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | IGF1R CL E G H | 3480 | 5465 | OMIM:270450 | Insulin-Like growth factor I, resistance to | . | | | 268 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | KCNAB2 CL E G H | 8514 | 6229 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | LGI3 CL E G H | 203190 | 18711 | OMIM:620007 | | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | LMX1B CL E G H | 4010 | 6654 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040282 - Frequent | | | 165 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | LTBP3 CL E G H | 4054 | 6716 | ORPHA:969 | Acromicric dysplasia | HP:0040282 - Frequent | | | 12 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | LUZP1 CL E G H | 7798 | 14985 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619004 | DEEAH SYNDROME; DEEAH | | | | 5 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MAF CL E G H | 4094 | 6776 | ORPHA:1272 | Aymé-Gripp syndrome | HP:0040282 - Frequent | | | 21 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MAF CL E G H | 4094 | 6776 | OMIM:601088 | Ayme-Gripp syndrome | | | | 21 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MAPK1 CL E G H | 5594 | 6871 | ORPHA:261330 | Distal 22q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MAPK8IP3 CL E G H | 23162 | 6884 | OMIM:618443 | Neurodevelopmental disorder with or without variable brain abnormalities | . | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MAPRE2 CL E G H | 10982 | 6891 | OMIM:616734 | Skin creases, congenital symmetric circumferential, 2 | . | | | 4 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MCM5 CL E G H | 4174 | 6948 | OMIM:617564 | Meier-Gorlin syndrome 8 | . | | | 2 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MDM2 CL E G H | 4193 | 6973 | OMIM:618681 | LESSEL-KUBISCH SYNDROME; LSKB | | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MECP2 CL E G H | 4204 | 6990 | OMIM:300260 | Mental retardation, x-linked syndromic, Lubs type | . | | | 950 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | . | | | 228 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MMP1 CL E G H | 4312 | 7155 | ORPHA:79408 | Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form | HP:0040283 - Occasional | | | 6 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:226600 | Epidermolysis bullosa dystrophica, autosomal recessive | . | | | 6 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MMP23B CL E G H | 8510 | 7171 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MYBPC1 CL E G H | 4604 | 7549 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 66 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MYBPC1 CL E G H | 4604 | 7549 | OMIM:618524 | MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM | | | | 66 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:618436 | Arthrogryposis, distal, type 2B3 | | | | 166 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 166 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | MYL11 CL E G H | 29895 | 29824 | OMIM:619110 | ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 48 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040281 - Very frequent | | | 48 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | . | | | 12 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | . | | | 40 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | NONO CL E G H | 4841 | 7871 | OMIM:300967 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34 | | | | 10 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040282 - Frequent | | | 138 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ORC1 CL E G H | 4998 | 8487 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 53 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ORC1 CL E G H | 4998 | 8487 | OMIM:224690 | Meier-Gorlin syndrome 1 | . | | | 53 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ORC4 CL E G H | 5000 | 8490 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 21 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ORC4 CL E G H | 5000 | 8490 | OMIM:613800 | Meier-Gorlin syndrome 2 | . | | | 21 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ORC6 CL E G H | 23594 | 17151 | ORPHA:2554 | Ear-patella-short stature syndrome | HP:0040281 - Very frequent | | | 39 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ORC6 CL E G H | 23594 | 17151 | OMIM:613803 | Meier-Gorlin syndrome 3 | . | | | 39 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | OSGEP CL E G H | 55644 | 18028 | OMIM:617729 | Galloway-Mowat syndrome 3 | . | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | OTX2 CL E G H | 5015 | 8522 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 41 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040281 - Very frequent | | | 231 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:1529 | Craniofacial-deafness-hand syndrome | HP:0040281 - Very frequent | | | 59 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PDPN CL E G H | 10630 | 29602 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PHACTR1 CL E G H | 221692 | 20990 | OMIM:618298 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70 | | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PIEZO2 CL E G H | 63895 | 26270 | ORPHA:2461 | Marden-Walker syndrome | HP:0040281 - Very frequent | | | 77 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PIGF CL E G H | 5281 | 8962 | OMIM:619356 | ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:615108 | Cowden syndrome 5 | . | | | 162 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PIK3R2 CL E G H | 5296 | 8980 | ORPHA:83473 | Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PLCB4 CL E G H | 5332 | 9059 | ORPHA:137888 | Auriculocondylar syndrome | HP:0040282 - Frequent | | | 82 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PLCB4 CL E G H | 5332 | 9059 | OMIM:614669 | Auriculocondylar syndrome 2 | | | | 82 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | POLD1 CL E G H | 5424 | 9175 | OMIM:615381 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | . | | | 731 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040284 - Very rare | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PPP1R15B CL E G H | 84919 | 14951 | OMIM:616817 | Microcephaly, short stature, and impaired glucose metabolism 2 | HP:0040283 - Occasional | | | 2 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PQBP1 CL E G H | 10084 | 9330 | ORPHA:93946 | Hamel cerebro-palato-cardiac syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PQBP1 CL E G H | 10084 | 9330 | OMIM:309500 | Renpenning syndrome | | | | 28 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PRDM16 CL E G H | 63976 | 14000 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 148 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PRKCZ CL E G H | 5590 | 9412 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PRRX1 CL E G H | 5396 | 9142 | ORPHA:990 | Agnathia-holoprosencephaly-situs inversus syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PRRX1 CL E G H | 5396 | 9142 | OMIM:202650 | Agnathia-Otocephaly complex | . | | | 4 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:158350 | Cowden syndrome 1 | . | | | 948 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:79076 | Juvenile polyposis of infancy | HP:0040283 - Occasional | | | 948 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | | | | 90 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040282 - Frequent | | | 445 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RECQL4 CL E G H | 9401 | 9949 | OMIM:218600 | Baller-Gerold syndrome | . | | | 445 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RERE CL E G H | 473 | 9965 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1234 | Bartsocas-Papas syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RNF2 CL E G H | 6045 | 10061 | OMIM:619460 | LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RPL10 CL E G H | 6134 | 10298 | OMIM:300998 | MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35 | | | | 10 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:459070 | X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RSPO2 CL E G H | 340419 | 28583 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RTTN CL E G H | 25914 | 18654 | OMIM:614833 | Microcephaly, short stature, and polymicrogyria with or without seizures | . | | | 113 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:324581 | Benign Samaritan congenital myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251019 | 2q32q33 microdeletion syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | . | | | 34 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040283 - Occasional | | | 34 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SCARF2 CL E G H | 91179 | 19869 | OMIM:600920 | Van den Ende-Gupta syndrome | | | | 11 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SCN1A CL E G H | 6323 | 10585 | OMIM:619317 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B | | | | 1053 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040282 - Frequent | | | 16 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SEPTIN9 CL E G H | 10801 | 7323 | OMIM:162100 | Amyotrophy, hereditary neuralgic | . | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SEPTIN9 CL E G H | 10801 | 7323 | ORPHA:2901 | Neuralgic amyotrophy | HP:0040283 - Occasional | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:616078 | Mental retardation, autosomal dominant 29 | | | | 143 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261222 | Distal 16p11.2 microdeletion syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SIN3A CL E G H | 25942 | 19353 | ORPHA:94065 | 15q24 microdeletion syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SKI CL E G H | 6497 | 10896 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | . | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SMAD4 CL E G H | 4089 | 6770 | OMIM:139210 | Myhre syndrome | | | | 504 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040281 - Very frequent | | | 504 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SMS CL E G H | 6611 | 11123 | ORPHA:3063 | X-linked intellectual disability, Snyder type | HP:0040283 - Occasional | | | 19 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | . | | | 12 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SOX6 CL E G H | 55553 | 16421 | OMIM:618971 | TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS | | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SOX9 CL E G H | 6662 | 11204 | OMIM:114290 | Campomelic dysplasia | | | | 109 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SP7 CL E G H | 121340 | 17321 | OMIM:613849 | Osteogenesis imperfecta, type XII | . | | | 34 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SPEG CL E G H | 10290 | 16901 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 20 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SPEG CL E G H | 10290 | 16901 | OMIM:615959 | Myopathy, centronuclear, 5 | . | | | 20 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SPEN CL E G H | 23013 | 17575 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | STXBP1 CL E G H | 6812 | 11444 | ORPHA:495818 | 9q33.3q34.11 microdeletion syndrome | HP:0040282 - Frequent | | | 237 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:544254 | SYNGAP1-related developmental and epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TAF6 CL E G H | 6878 | 11540 | OMIM:617126 | Alazami-Yuan syndrome | . | | | 5 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TBX4 CL E G H | 9496 | 11603 | ORPHA:261279 | 17q23.1q23.2 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TCOF1 CL E G H | 6949 | 11654 | OMIM:154500 | Treacher collins-franceschetti syndrome | . | | | 140 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TLK2 CL E G H | 11011 | 11842 | OMIM:618050 | Mental retardation, autosomal dominant 57 | . | | | 1 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TNNI2 CL E G H | 7136 | 11946 | OMIM:601680 | Arthrogryposis, distal, type 2B | . | | | 37 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TNNI2 CL E G H | 7136 | 11946 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TNNT3 CL E G H | 7140 | 11950 | OMIM:618435 | Arthrogryposis, distal, type 2B2 | HP:0040284 - Very rare | | | 43 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TNNT3 CL E G H | 7140 | 11950 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 43 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:129400 | Rapp-Hodgkin syndrome | . | | | 140 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:108120 | Arthrogryposis, distal, type 1A | . | | | 54 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:1146 | Distal arthrogryposis type 1 | HP:0040283 - Occasional | | | 54 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TRMT5 CL E G H | 57570 | 23141 | OMIM:616539 | Combined oxidative phosphorylation deficiency 26 | . | | | 4 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TTN CL E G H | 7273 | 12403 | ORPHA:169186 | Autosomal recessive centronuclear myopathy | HP:0040283 - Occasional | | | 7128 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | . | | | 14 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:617746 | Sweeney-Cox syndrome | . | | | 18 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | TXNL4A CL E G H | 10907 | 30551 | OMIM:608572 | Burn-Mckeown syndrome | . | | | 19 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | UBE3B CL E G H | 89910 | 13478 | OMIM:244450 | Kaufman oculocerebrofacial syndrome | | | | 13 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | UBE4B CL E G H | 10277 | 12500 | ORPHA:1606 | 1p36 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | WNT3 CL E G H | 7473 | 12782 | ORPHA:3301 | Tetraamelia-multiple malformations syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | YWHAE CL E G H | 7531 | 12851 | ORPHA:217385 | 17p13.3 microduplication syndrome | HP:0040281 - Very frequent | | | 14 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | . | | | 17 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:90154 | Mandibuloacral dysplasia with type B lipodystrophy | HP:0040281 - Very frequent | | | 83 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:608612 | Mandibuloacral dysplasia with type B lipodystrophy | . | | | 83 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0000160 | HP:0000160 | Narrow mouth | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |