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:0011220 | HP:0011220 | Prominent forehead | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | . | | | 2 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ADAT3 CL E G H | 113179 | 25151 | ORPHA:363528 | Intellectual disability-strabismus syndrome | HP:0040282 - Frequent | | | 9 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ADAT3 CL E G H | 113179 | 25151 | OMIM:615286 | Mental retardation, autosomal recessive 36 | . | | | 9 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ADNP CL E G H | 23394 | 15766 | OMIM:615873 | Helsmoortel-van der Aa syndrome | | | | 47 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | . | | | 89 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | . | | | 13 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | AP2M1 CL E G H | 1173 | 564 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ARCN1 CL E G H | 372 | 649 | OMIM:617164 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay | | | | 3 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ARNT2 CL E G H | 9915 | 16876 | OMIM:615926 | Webb-Dattani syndrome | . | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ARX CL E G H | 170302 | 18060 | ORPHA:452 | X-linked lissencephaly with abnormal genitalia | HP:0040283 - Occasional | | | 166 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ATIC CL E G H | 471 | 794 | ORPHA:250977 | AICA-ribosiduria | HP:0040281 - Very frequent | | | 4 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ATIC CL E G H | 471 | 794 | OMIM:608688 | Aicar transformylase/imp cyclohydrolase deficiency | . | | | 4 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:615349 | Ehlers-Danlos syndrome, spondylodysplastic type, 2 | . | | | 38 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | B3GALT6 CL E G H | 126792 | 17978 | OMIM:271640 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures | | | | 38 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 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:0011220 | HP:0011220 | Prominent forehead | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | BRAF CL E G H | 673 | 1097 | OMIM:115150 | Cardiofaciocutaneous syndrome 1 | | | | 276 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613707 | Leopard syndrome 3 | | | | 276 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | BRAF CL E G H | 673 | 1097 | OMIM:613706 | Noonan syndrome 7 | | | | 276 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | BRWD3 CL E G H | 254065 | 17342 | OMIM:300659 | MENTAL RETARDATION, X-LINKED 93; MRX93 | | | | 104 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300422 | FG SYNDROME 4; FGS4 | | | | 118 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CCND2 CL E G H | 894 | 1583 | OMIM:615938 | Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 | . | | | 11 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CDC42 CL E G H | 998 | 1736 | OMIM:616737 | Takenouchi-Kosaki syndrome | . | | | 6 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | . | | | 405 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:614732 | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies | . | | | 114 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CDKN1C CL E G H | 1028 | 1786 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 114 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CEP57 CL E G H | 9702 | 30794 | OMIM:614114 | Mosaic variegated aneuploidy syndrome 2 | | | | 17 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CHD2 CL E G H | 1106 | 1917 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 227 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CHD3 CL E G H | 1107 | 1918 | OMIM:618205 | Snijders blok-campeau syndrome | . | | | 2 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 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:0011220 | HP:0011220 | Prominent forehead | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CNOT3 CL E G H | 4849 | 7879 | OMIM:618672 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | COG4 CL E G H | 25839 | 18620 | OMIM:618150 | Saul-Wilson syndrome | . | | | 67 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | COL27A1 CL E G H | 85301 | 22986 | OMIM:615155 | Steel syndrome | . | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85166 | Platyspondylic dysplasia, Torrance type | HP:0040282 - Frequent | | | 284 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:618332 | MENKE-HENNEKAM SYNDROME 1; MKHK1 | | | | 291 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | CREBBP CL E G H | 1387 | 2348 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 291 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | D2HGDH CL E G H | 728294 | 28358 | OMIM:600721 | D-2-Hydroxyglutaric aciduria 1 | . | | | 102 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DHCR24 CL E G H | 1718 | 2859 | ORPHA:35107 | Desmosterolosis | HP:0040283 - Occasional | | | 72 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 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:0011220 | HP:0011220 | Prominent forehead | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040282 - Frequent | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DPF2 CL E G H | 5977 | 9964 | OMIM:618027 | Coffin-Siris syndrome 7 | . | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | . | | | 3 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DPH2 CL E G H | 1802 | 3004 | OMIM:620062 | | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DPYD CL E G H | 1806 | 3012 | ORPHA:1675 | Dihydropyrimidine dehydrogenase deficiency | HP:0040283 - Occasional | | | 144 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | . | | | 427 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | EDA CL E G H | 1896 | 3157 | OMIM:305100 | Ectodermal dysplasia 1, hypohidrotic, X-linked | | | | 115 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 86 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 56 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | EFEMP2 CL E G H | 30008 | 3219 | OMIM:614437 | Cutis laxa, autosomal recessive, type IB | . | | | 45 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:618333 | MENKE-HENNEKAM SYNDROME 2; MKHK2 | | | | 250 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | EP300 CL E G H | 2033 | 3373 | OMIM:180849 | Rubinstein-Taybi syndrome 1 | | | | 250 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ERF CL E G H | 2077 | 3444 | OMIM:600775 | Craniosynostosis 4 | . | | | 12 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ERMARD CL E G H | 55780 | 21056 | ORPHA:75857 | 6q terminal deletion syndrome | HP:0040283 - Occasional | | | 36 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:466926 | Seizures-scoliosis-macrocephaly syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:602361 | Gracile bone dysplasia | . | | | 8 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | . | | | 8 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FAM149B1 CL E G H | 317662 | 29162 | OMIM:618763 | JOUBERT SYNDROME 36; JBTS36 | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FAM50A CL E G H | 9130 | 18786 | OMIM:300261 | Mental retardation syndrome, X-linked, Armfield type | . | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FBXO31 CL E G H | 79791 | 16510 | OMIM:615979 | Mental retardation, autosomal recessive 45 | | | | 8 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:300321 | Fg syndrome 2 | . | | | 493 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FLNA CL E G H | 2316 | 3754 | OMIM:304120 | Otopalatodigital syndrome, type II | . | | | 493 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FLNB CL E G H | 2317 | 3755 | OMIM:150250 | Larsen syndrome | . | | | 233 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FLNB CL E G H | 2317 | 3755 | ORPHA:503 | Larsen syndrome | HP:0040281 - Very frequent | | | 233 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:449291 | Symptomatic form of fragile X syndrome in female carriers | HP:0040284 - Very rare | | | 30 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:391372 | Intellectual disability-severe speech delay-mild dysmorphism syndrome | HP:0040281 - Very frequent | | | 184 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FOXP1 CL E G H | 27086 | 3823 | OMIM:613670 | Mental retardation with language impairment and with or without autistic features | | | | 184 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FUCA1 CL E G H | 2517 | 4006 | OMIM:230000 | FUCOSIDOSIS | . | | | 43 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FUCA1 CL E G H | 2517 | 4006 | ORPHA:349 | Fucosidosis | HP:0040281 - Very frequent | | | 43 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GJA5 CL E G H | 2702 | 4279 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 39 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GJA8 CL E G H | 2703 | 4281 | OMIM:612474 | Chromosome 1q21.1 deletion syndrome, 1.35-mb | | | | 34 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | . | | | 173 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GNS CL E G H | 2799 | 4422 | OMIM:252940 | Mucopolysaccharidosis, type IIID | . | | | 69 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GPAA1 CL E G H | 8733 | 4446 | OMIM:617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GPAA1 CL E G H | 8733 | 4446 | ORPHA:529665 | Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome | HP:0040282 - Frequent | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:301026 | Keipert syndrome | . | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | GRB10 CL E G H | 2887 | 4564 | ORPHA:96182 | Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 | HP:0040282 - Frequent | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 4 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040282 - Frequent | | | 4 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | H3-3B CL E G H | 3021 | 4765 | OMIM:619721 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2 | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | HECW2 CL E G H | 57520 | 29853 | OMIM:617268 | Neurodevelopmental disorder with hypotonia, seizures, and absent language | | | | 11 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | HERC1 CL E G H | 8925 | 4867 | OMIM:617011 | Macrocephaly, dysmorphic facies, and psychomotor retardation | . | | | 16 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | HERC1 CL E G H | 8925 | 4867 | ORPHA:457359 | Megalencephaly-severe kyphoscoliosis-overgrowth syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 21 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | HMGA2 CL E G H | 8091 | 5009 | OMIM:618908 | SILVER-RUSSELL SYNDROME 5; SRS5 | | | | 2 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | HMGA2 CL E G H | 8091 | 5009 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 2 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 113 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 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:0011220 | HP:0011220 | Prominent forehead | 0 | IARS2 CL E G H | 55699 | 29685 | OMIM:616007 | Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | . | | | 25 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | IFT140 CL E G H | 9742 | 29077 | OMIM:266920 | Short-rib thoracic dysplasia 9 with or without polydactyly | . | | | 148 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | IFT81 CL E G H | 28981 | 14313 | OMIM:617895 | Short-Rib thoracic dysplasia 19 with or without polydactyly | . | | | 2 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040283 - Occasional | | | 91 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:616489 | Growth restriction, severe, with distinctive facies | . | | | 9 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 9 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 9 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231140 | Silver-Russell syndrome due to an imprinting defect of 11p15 | HP:0040282 - Frequent | | | 9 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619750 | IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94 | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | INPPL1 CL E G H | 3636 | 6080 | OMIM:258480 | OPSISMODYSPLASIA | | | | 18 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | | | | 4 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ITGA3 CL E G H | 3675 | 6139 | OMIM:614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | . | | | 6 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KCNJ1 CL E G H | 3758 | 6255 | OMIM:241200 | Bartter syndrome, antenatal, type 2 | . | | | 51 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KDM1A CL E G H | 23028 | 29079 | OMIM:616728 | Cleft palate, psychomotor retardation, and distinctive facial features | | | | 3 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KDM1A CL E G H | 23028 | 29079 | ORPHA:477993 | Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KDM6B CL E G H | 23135 | 29012 | OMIM:618505 | Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities | . | | | 9 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KIDINS220 CL E G H | 57498 | 29508 | OMIM:617296 | SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO | | | | 4 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KIDINS220 CL E G H | 57498 | 29508 | ORPHA:521390 | Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KIF11 CL E G H | 3832 | 6388 | OMIM:152950 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | HP:0040283 - Occasional | | | 46 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | . | | | 167 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KMT2E CL E G H | 55904 | 18541 | OMIM:618512 | O'donnell-Luria-Rodan syndrome | . | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | KPTN CL E G H | 11133 | 6404 | OMIM:615637 | Mental retardation, autosomal recessive 41 | | | | 13 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | LARP7 CL E G H | 51574 | 24912 | ORPHA:319671 | Alazami syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | . | | | 70 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 51 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 43 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | LRP4 CL E G H | 4038 | 6696 | OMIM:212780 | Cenani-Lenz syndactyly syndrome | . | | | 124 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | LRPPRC CL E G H | 10128 | 15714 | OMIM:220111 | Leigh syndrome, french Canadian type | . | | | 191 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MAB21L2 CL E G H | 10586 | 6758 | OMIM:615877 | Microphthalmia/coloboma and skeletal dysplasia syndrome | . | | | 5 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MBTPS1 CL E G H | 8720 | 15456 | OMIM:618392 | Spondyloepiphyseal dysplasia, Kondo-Fu type | . | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:309520 | Lujan-Fryns syndrome | . | | | 228 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:300895 | Ohdo syndrome, X-linked | | | | 228 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MED12 CL E G H | 9968 | 11957 | OMIM:305450 | Opitz-Kaveggia syndrome | . | | | 228 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MED13L CL E G H | 23389 | 22962 | OMIM:616789 | Mental retardation and distinctive facial features with or without cardiac defects | | | | 74 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 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:0011220 | HP:0011220 | Prominent forehead | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040282 - Frequent | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MEGF8 CL E G H | 1954 | 3233 | OMIM:614976 | Carpenter syndrome 2 | | | | 13 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | . | | | 57 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MN1 CL E G H | 4330 | 7180 | OMIM:618774 | CEBALID SYNDROME; CEBALID | | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MTOR CL E G H | 2475 | 3942 | ORPHA:457485 | Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | . | | | 166 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | . | | | 23 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NALCN CL E G H | 259232 | 19082 | OMIM:615419 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | . | | | 48 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NANS CL E G H | 54187 | 19237 | OMIM:610442 | Spondyloepimetaphyseal dysplasia, Genevieve type | . | | | 8 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NEXMIF CL E G H | 340533 | 29433 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 52 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:420179 | Malan overgrowth syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:561 | Marshall-Smith syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NPR2 CL E G H | 4882 | 7944 | ORPHA:40 | Acromesomelic dysplasia, Maroteaux type | HP:0040282 - Frequent | | | 53 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NPR2 CL E G H | 4882 | 7944 | OMIM:602875 | Acromesomelic dysplasia, Maroteaux type | . | | | 53 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 102 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 544 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:619695 | RAUCH-STEINDL SYNDROME; RAUST | | | | 118 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | OBSL1 CL E G H | 23363 | 29092 | OMIM:612921 | 3-M syndrome 2 | | | | 143 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | . | | | 55 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PAM16 CL E G H | 51025 | 29679 | OMIM:613320 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type | . | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:616592 | Kosaki overgrowth syndrome | . | | | 28 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PEPD CL E G H | 5184 | 8840 | OMIM:170100 | Prolidase deficiency | | | | 66 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:202370 | Peroxisome biogenesis disorder 2B | . | | | 99 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PIGK CL E G H | 10026 | 8965 | OMIM:618879 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES; NEDHCAS | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PIGL CL E G H | 9487 | 8966 | OMIM:280000 | Zunich neuroectodermal syndrome | . | | | 36 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:269880 | Short syndrome | . | | | 43 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:3163 | SHORT syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:782 | Axenfeld-Rieger syndrome | HP:0040283 - Occasional | | | 51 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PKDCC CL E G H | 91461 | 25123 | OMIM:618821 | RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PLA2G6 CL E G H | 8398 | 9039 | OMIM:256600 | Neurodegeneration with brain iron accumulation 2A | . | | | 133 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PLAG1 CL E G H | 5324 | 9045 | OMIM:618907 | SILVER-RUSSELL SYNDROME 4; SRS4 | | | | 3 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PLAG1 CL E G H | 5324 | 9045 | ORPHA:397590 | Silver-Russell syndrome due to a point mutation | HP:0040281 - Very frequent | | | 3 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040282 - Frequent | | | 150 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | POC1A CL E G H | 25886 | 24488 | OMIM:614813 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis | . | | | 10 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 36 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | . | | | 36 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PPP2R5D CL E G H | 5528 | 9312 | ORPHA:457279 | Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | HP:0040283 - Occasional | | | 42 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040283 - Occasional | | | 54 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PRPS1 CL E G H | 5631 | 9462 | OMIM:300661 | Phosphoribosylpyrophosphate synthetase superactivity | | | | 49 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508488 | 8q24.3 microdeletion syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PURA CL E G H | 5813 | 9701 | OMIM:616158 | Mental retardation, autosomal dominant 31 | . | | | 53 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PURA CL E G H | 5813 | 9701 | ORPHA:438216 | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation | HP:0040283 - Occasional | | | 53 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | . | | | 53 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:614438 | Cutis laxa, autosomal recessive, type IIIB | . | | | 53 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | RAF1 CL E G H | 5894 | 9829 | OMIM:611553 | Noonan syndrome 5 | | | | 212 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | RALA CL E G H | 5898 | 9839 | OMIM:619311 | HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040282 - Frequent | | | 37 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | RPS6KA3 CL E G H | 6197 | 10432 | OMIM:300844 | MENTAL RETARDATION, X-LINKED 19; MRX19 | | | | 65 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040282 - Frequent | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040282 - Frequent | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:324581 | Benign Samaritan congenital myopathy | HP:0040283 - Occasional | | | 1200 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SATB2 CL E G H | 23314 | 21637 | ORPHA:251028 | SATB2-associated syndrome due to a chromosomal rearrangement | HP:0040282 - Frequent | | | 34 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 1053 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | . | | | 52 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SETD2 CL E G H | 29072 | 18420 | OMIM:616831 | Luscan-Lumish syndrome | | | | 60 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SKI CL E G H | 6497 | 10896 | OMIM:182212 | Shprintzen-Goldberg craniosynostosis syndrome | | | | 150 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SKIC2 CL E G H | 6499 | 10898 | OMIM:614602 | Trichohepatoenteric syndrome 2 | . | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 255 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SLC6A1 CL E G H | 6529 | 11042 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 29 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:619995 | | | | | 2 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | . | | | 2 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SMOC1 CL E G H | 64093 | 20318 | ORPHA:1106 | Microphthalmia with limb anomalies | HP:0040281 - Very frequent | | | 15 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SMOC1 CL E G H | 64093 | 20318 | OMIM:206920 | Microphthalmia with limb anomalies | . | | | 15 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SNX14 CL E G H | 57231 | 14977 | OMIM:616354 | Spinocerebellar ataxia, autosomal recessive 20 | . | | | 14 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SON CL E G H | 6651 | 11183 | ORPHA:500150 | Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SON CL E G H | 6651 | 11183 | OMIM:617140 | Zttk syndrome | | | | 12 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SP7 CL E G H | 121340 | 17321 | OMIM:613849 | Osteogenesis imperfecta, type XII | . | | | 34 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SPECC1L CL E G H | 23384 | 29022 | OMIM:145420 | Hypertelorism, Teebi type | . | | | 6 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SPECC1L CL E G H | 23384 | 29022 | ORPHA:1519 | SPECC1L-related hypertelorism syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SRCAP CL E G H | 10847 | 16974 | OMIM:619595 | DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA | | | | 138 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | STAT5B CL E G H | 6777 | 11367 | OMIM:245590 | GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY | | | | 12 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SUZ12 CL E G H | 23512 | 17101 | OMIM:618786 | IMAGAWA-MATSUMOTO SYNDROME; IMMAS | | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SVBP CL E G H | 374969 | 29204 | OMIM:618569 | NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:1942 | Myoclonic-astatic epilepsy | HP:0040284 - Very rare | | | 108 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TAPT1 CL E G H | 202018 | 26887 | OMIM:616897 | Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type | | | | 2 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TMEM147 CL E G H | 10430 | 30414 | OMIM:620075 | | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TMEM53 CL E G H | 79639 | 26186 | OMIM:619727 | CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TONSL CL E G H | 4796 | 7801 | ORPHA:93357 | SPONASTRIME dysplasia | HP:0040283 - Occasional | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040283 - Occasional | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | . | | | 133 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TTC7A CL E G H | 57217 | 19750 | OMIM:243150 | Gastrointestinal defects and immunodeficiency syndrome | HP:0040284 - Very rare | | | 26 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | TWIST1 CL E G H | 7291 | 12428 | OMIM:123100 | Craniosynostosis 1 | | | | 18 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | UBR7 CL E G H | 55148 | 20344 | OMIM:619189 | LI-CAMPEAU SYNDROME; LICAS | | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | UPF3B CL E G H | 65109 | 20439 | OMIM:300676 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 14; MRXS14 | | | | 33 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | . | | | 27 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300919 | MENTAL RETARDATION, X-LINKED 99; MRX99 | | | | 27 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | . | | | 20 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:466950 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | HP:0040283 - Occasional | | | 20 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | WASHC4 CL E G H | 23325 | 29174 | OMIM:615817 | Mental retardation, autosomal recessive 43 | | | | 25 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ZBTB18 CL E G H | 10472 | 13030 | ORPHA:36367 | Distal monosomy 1q | HP:0040281 - Very frequent | | | 16 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ZBTB18 CL E G H | 10472 | 13030 | OMIM:612337 | Mental retardation, autosomal dominant 22 | . | | | 16 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ZNF292 CL E G H | 23036 | 18410 | OMIM:619188 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64 | | | | 3 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ZNF711 CL E G H | 7552 | 13128 | OMIM:300803 | MENTAL RETARDATION, X-LINKED 97; MRX97 | | | | 34 | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ZPR1 CL E G H | 8882 | 13051 | OMIM:619321 | GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF | | | | | | |
HP:0011220 | HP:0011220 | Prominent forehead | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:617865 | Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features | . | | | 5 | | |