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:0000337 | HP:0000337 | Broad forehead | 0 | ABL1 CL E G H | 25 | 76 | OMIM:617602 | Congenital heart defects and skeletal malformations syndrome | . | | | 51 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ACTG2 CL E G H | 72 | 145 | ORPHA:2604 | Familial visceral myopathy | HP:0040283 - Occasional | | | 23 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ACTL6B CL E G H | 51412 | 160 | OMIM:618470 | Intellectual developmental disorder with severe speech and ambulation defects | . | | | 2 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 95 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ALDH18A1 CL E G H | 5832 | 9722 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 89 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:616603 | Cutis laxa, autosomal dominant 3 | . | | | 89 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | AMMECR1 CL E G H | 9949 | 467 | OMIM:300990 | Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis | | | | 2 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000337 | HP:0000337 | Broad 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:0000337 | HP:0000337 | Broad forehead | 0 | B4GALT7 CL E G H | 11285 | 930 | OMIM:130070 | Ehlers-Danlos syndrome, spondylodysplastic type, 1 | | | | 29 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | BMP1 CL E G H | 649 | 1067 | OMIM:614856 | Osteogenesis imperfecta, type XIII | HP:0040283 - Occasional | | | 49 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | BRPF1 CL E G H | 7862 | 14255 | OMIM:617333 | Intellectual developmental disorder with dysmorphic facies and ptosis | . | | | 10 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CASK CL E G H | 8573 | 1497 | ORPHA:163937 | X-linked intellectual disability, Najm type | HP:0040282 - Frequent | | | 118 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CCDC22 CL E G H | 28952 | 28909 | OMIM:300963 | Ritscher-Schinzel syndrome 2 | . | | | 33 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CCDC8 CL E G H | 83987 | 25367 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CCNQ CL E G H | 92002 | 28434 | OMIM:300707 | Toe syndactyly, telecanthus, and anogenital and renal malformations | . | | | 7 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CDH11 CL E G H | 1009 | 1750 | OMIM:211380 | Elsahy-Waters syndrome | . | | | 2 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CDH2 CL E G H | 1000 | 1759 | OMIM:618929 | AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CDKL5 CL E G H | 6792 | 11411 | ORPHA:505652 | CDKL5-deficiency disorder | HP:0040282 - Frequent | | | 405 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CDKL5 CL E G H | 6792 | 11411 | OMIM:300672 | Developmental and epileptic encephalopathy 2 | . | | | 405 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CHST14 CL E G H | 113189 | 24464 | OMIM:601776 | Ehlers-Danlos syndrome, musculocontractural type 1 | . | | | 27 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CHST3 CL E G H | 9469 | 1971 | ORPHA:263463 | CHST3-related skeletal dysplasia | HP:0040282 - Frequent | | | 165 | | |
HP:0000337 | HP:0000337 | Broad 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:0000337 | HP:0000337 | Broad forehead | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:143095 | Spondyloepiphyseal dysplasia with congenital joint dislocations | HP:0040282 - Frequent | | | 165 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 5 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CKAP2L CL E G H | 150468 | 26877 | OMIM:272440 | Filippi syndrome | . | | | 7 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CKAP2L CL E G H | 150468 | 26877 | ORPHA:3255 | Filippi syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | COLEC11 CL E G H | 78989 | 17213 | OMIM:265050 | 3mc syndrome 2 | . | | | 9 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | CUL7 CL E G H | 9820 | 21024 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | DLL3 CL E G H | 10683 | 2909 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | DNMT3A CL E G H | 1788 | 2978 | OMIM:618724 | HEYN-SPROUL-JACKSON SYNDROME; HESJAS | | | | 44 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | EED CL E G H | 8726 | 3188 | OMIM:617561 | Cohen-Gibson syndrome | . | | | 4 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | EED CL E G H | 8726 | 3188 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 172 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | EMC10 CL E G H | 284361 | 27609 | OMIM:619264 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | EZH2 CL E G H | 2146 | 3527 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 81 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90348 | Autosomal dominant cutis laxa | | | | 63 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:616914 | Marfan lipodystrophy syndrome | | | | 1361 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FGD1 CL E G H | 2245 | 3663 | ORPHA:915 | Aarskog-Scott syndrome | HP:0040282 - Frequent | | | 62 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:101200 | Apert syndrome | . | | | 175 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:87 | Apert syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:35099 | Isolated brachycephaly | HP:0040281 - Very frequent | | | 145 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FLCN CL E G H | 201163 | 27310 | OMIM:610883 | Potocki-Lupski syndrome | | | | 332 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:90652 | Otopalatodigital syndrome type 2 | HP:0040281 - Very frequent | | | 493 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FLT4 CL E G H | 2324 | 3767 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 90 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | FUT8 CL E G H | 2530 | 4019 | OMIM:618005 | Congenital disorder of glycosylation with defective fucosylation 1 | . | | | 3 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 87 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GATA4 CL E G H | 2626 | 4173 | OMIM:187500 | Tetralogy of Fallot | . | | | 87 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 10 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GATA6 CL E G H | 2627 | 4174 | OMIM:187500 | Tetralogy of Fallot | . | | | 37 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 37 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GATAD2B CL E G H | 57459 | 30778 | OMIM:615074 | Mental retardation, autosomal dominant 18 | . | | | 33 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GATAD2B CL E G H | 57459 | 30778 | ORPHA:363686 | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GDF1 CL E G H | 2657 | 4214 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 28 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GJA5 CL E G H | 2702 | 4279 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 39 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:2662 | Keipert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | HBA1 CL E G H | 3039 | 4823 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 200 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | HBA2 CL E G H | 3040 | 4824 | ORPHA:98791 | Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 | HP:0040282 - Frequent | | | 88 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | HES7 CL E G H | 84667 | 15977 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 10 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | HOXB1 CL E G H | 3211 | 5111 | OMIM:614744 | Facial paresis, hereditary congenital, 3 | | | | 2 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | HRAS CL E G H | 3265 | 5173 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 113 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | IGBP1 CL E G H | 3476 | 5461 | OMIM:300472 | CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA | | | | 5 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | JAG1 CL E G H | 182 | 6188 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 257 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:187500 | Tetralogy of Fallot | . | | | 257 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | KANSL1 CL E G H | 284058 | 24565 | OMIM:610443 | Koolen-De Vries syndrome | | | | 283 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | KCNJ2 CL E G H | 3759 | 6263 | OMIM:170390 | Andersen cardiodysrhythmic periodic paralysis | . | | | 193 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | KCNJ2 CL E G H | 3759 | 6263 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 193 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | KCNJ5 CL E G H | 3762 | 6266 | ORPHA:37553 | Andersen-Tawil syndrome | HP:0040283 - Occasional | | | 128 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | KDR CL E G H | 3791 | 6307 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 40 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:615278 | Cardiofaciocutaneous syndrome 2 | | | | 196 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | LFNG CL E G H | 3955 | 6560 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 13 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | LRP2 CL E G H | 4036 | 6694 | ORPHA:2143 | Donnai-Barrow syndrome | HP:0040282 - Frequent | | | 289 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:178377 | Osteosclerosis-developmental delay-craniosynostosis syndrome | HP:0040281 - Very frequent | | | 125 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MADD CL E G H | 8567 | 6766 | OMIM:619005 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH | | | | 5 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MAN2B1 CL E G H | 4125 | 6826 | ORPHA:309282 | Alpha-mannosidosis, infantile form | HP:0040283 - Occasional | | | 136 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MBD5 CL E G H | 55777 | 20444 | ORPHA:228402 | 2q23.1 microdeletion syndrome | HP:0040282 - Frequent | | | 252 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | . | | | 252 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MED13L CL E G H | 23389 | 22962 | ORPHA:369891 | Developmental delay-facial dysmorphism syndrome due to MED13L deficiency | HP:0040283 - Occasional | | | 74 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | HP:0040281 - Very frequent | | | 132 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MEF2C CL E G H | 4208 | 6996 | OMIM:613443 | Mental retardation, autosomal dominant 20 | . | | | 132 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MESP2 CL E G H | 145873 | 29659 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 45 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:617121 | JOUBERT SYNDROME 28; JBTS28 | | | | 127 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NARS1 CL E G H | 4677 | 7643 | OMIM:619092 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040283 - Occasional | | | 1952 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NFIA CL E G H | 4774 | 7784 | OMIM:613735 | Brain malformations with or without urinary tract defects | . | | | 12 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NIPA1 CL E G H | 123606 | 17043 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 117 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NIPA2 CL E G H | 81614 | 17044 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 90 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NKX2-5 CL E G H | 1482 | 2488 | OMIM:187500 | Tetralogy of Fallot | . | | | 90 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NKX2-6 CL E G H | 137814 | 32940 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 3 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NOTCH2 CL E G H | 4853 | 7882 | OMIM:610205 | Alagille syndrome 2 | | | | 138 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:137550 | Melanocytic nevus syndrome, congenital | . | | | 102 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 544 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | OBSL1 CL E G H | 23363 | 29092 | ORPHA:2616 | 3M syndrome | HP:0040281 - Very frequent | | | 143 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ODC1 CL E G H | 4953 | 8109 | ORPHA:544488 | Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PAK1 CL E G H | 5058 | 8590 | OMIM:618158 | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | . | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | . | | | 47 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040281 - Very frequent | | | 37 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PIK3CA CL E G H | 5290 | 8975 | OMIM:602501 | Megalencephaly-Capillary malformation-polymicrogyria syndrome | . | | | 162 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | POGZ CL E G H | 23126 | 18801 | OMIM:616364 | White-Sutton syndrome | | | | 35 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | POLE CL E G H | 5426 | 9177 | OMIM:615139 | Facial dysmorphism, immunodeficiency, livedo, and short stature | . | | | 1129 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | POLR3A CL E G H | 11128 | 30074 | ORPHA:3455 | Wiedemann-Rautenstrauch syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PPM1D CL E G H | 8493 | 9277 | OMIM:617450 | Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | . | | | 22 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PPP2CA CL E G H | 5515 | 9299 | OMIM:618354 | Neurodevelopmental disorder and language delay with or without structural brain abnormalities | . | | | 2 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PRKACB CL E G H | 5567 | 9381 | OMIM:619143 | CARDIOACROFACIAL DYSPLASIA 2; CAFD2 | | | | 2 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PSPH CL E G H | 5723 | 9577 | ORPHA:79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 54 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PTDSS1 CL E G H | 9791 | 9587 | ORPHA:2658 | Lenz-Majewski hyperostotic dwarfism | HP:0040281 - Very frequent | | | 6 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PTDSS1 CL E G H | 9791 | 9587 | OMIM:151050 | Lenz-Majewski hyperostotic dwarfism | . | | | 6 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PTEN CL E G H | 5728 | 9588 | OMIM:605309 | Macrocephaly/autism syndrome | . | | | 948 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | PYCR1 CL E G H | 5831 | 9721 | OMIM:612940 | Cutis laxa, autosomal recessive, type IIB | . | | | 53 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | RBM8A CL E G H | 9939 | 9905 | ORPHA:3320 | Thrombocytopenia-absent radius syndrome | HP:0040282 - Frequent | | | 10 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:1225 | Baller-Gerold syndrome | HP:0040283 - Occasional | | | 445 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | RIPPLY2 CL E G H | 134701 | 21390 | ORPHA:2311 | Autosomal recessive spondylocostal dysostosis | HP:0040283 - Occasional | | | 3 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | RLIM CL E G H | 51132 | 13429 | OMIM:300978 | Tonne-Kalscheuer syndrome | . | | | 7 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | RNF135 CL E G H | 84282 | 21158 | ORPHA:137634 | Overgrowth-macrocephaly-facial dysmorphism syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000337 | HP:0000337 | Broad forehead | 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:0000337 | HP:0000337 | Broad forehead | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254528 | Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040283 - Occasional | | | 90 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SCNM1 CL E G H | 79005 | 23136 | OMIM:620107 | | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040281 - Very frequent | | | 143 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SH2B1 CL E G H | 25970 | 30417 | ORPHA:261197 | Proximal 16p11.2 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SHOC2 CL E G H | 8036 | 15454 | OMIM:607721 | Noonan syndrome-like with loose anagen hair 1 | | | | 74 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SIM1 CL E G H | 6492 | 10882 | ORPHA:171829 | 6q16 microdeletion syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SKIC2 CL E G H | 6499 | 10898 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SKIC3 CL E G H | 9652 | 23639 | ORPHA:84064 | Syndromic diarrhea | HP:0040282 - Frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SKIC3 CL E G H | 9652 | 23639 | OMIM:222470 | Trichohepatoenteric syndrome 1 | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SLC25A24 CL E G H | 29957 | 20662 | ORPHA:2963 | Progeroid syndrome, Petty type | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SLC6A8 CL E G H | 6535 | 11055 | OMIM:300352 | Creatine deficiency syndrome, X-linked | . | | | 122 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SMAD2 CL E G H | 4087 | 6768 | OMIM:619657 | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8 | | | | 7 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | STEEP1 CL E G H | 63932 | 26239 | OMIM:301013 | MENTAL RETARDATION, X-LINKED 107; MRX107 | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | SUZ12 CL E G H | 23512 | 17101 | ORPHA:3447 | Weaver syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TAB2 CL E G H | 23118 | 17075 | ORPHA:228410 | Polyvalvular heart disease syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TAFAZZIN CL E G H | 6901 | 11577 | OMIM:302060 | Barth syndrome | . | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TBC1D7 CL E G H | 51256 | 21066 | OMIM:248000 | Macrocephaly/megalencephaly syndrome, autosomal recessive | . | | | 4 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TBCK CL E G H | 93627 | 28261 | ORPHA:488632 | TBCK-related intellectual disability syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 32 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:187500 | Tetralogy of Fallot | . | | | 32 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TCF12 CL E G H | 6938 | 11623 | ORPHA:35099 | Isolated brachycephaly | HP:0040281 - Very frequent | | | 28 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TCTN2 CL E G H | 79867 | 25774 | OMIM:613885 | Meckel syndrome, type 8 | . | | | 76 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TENT5A CL E G H | 55603 | 18345 | OMIM:617952 | Osteogenesis imperfecta, type XVIII | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TET3 CL E G H | 200424 | 28313 | OMIM:618798 | BECK-FAHRNER SYNDROME; BEFAHRS | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TFAP2B CL E G H | 7021 | 11743 | OMIM:169100 | Char syndrome | . | | | 104 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | THOC2 CL E G H | 57187 | 19073 | ORPHA:457240 | X-linked intellectual disability-short stature-overweight syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | THOC6 CL E G H | 79228 | 28369 | ORPHA:363444 | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TTC5 CL E G H | 91875 | 19274 | OMIM:619244 | NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TUBG1 CL E G H | 7283 | 12417 | ORPHA:261183 | 15q11.2 microdeletion syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:35099 | Isolated brachycephaly | HP:0040281 - Very frequent | | | 18 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | UNC80 CL E G H | 285175 | 26582 | OMIM:616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | | | | 23 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | WAC CL E G H | 51322 | 17327 | OMIM:616708 | Desanto-Shinawi syndrome | . | | | 20 | | |
HP:0000337 | HP:0000337 | Broad 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:0000337 | HP:0000337 | Broad forehead | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | WBP11 CL E G H | 51729 | 16461 | OMIM:619227 | VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL | | | | | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | YY1 CL E G H | 7528 | 12856 | OMIM:617557 | Gabriele-De vries syndrome | . | | | 7 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | YY1 CL E G H | 7528 | 12856 | ORPHA:506358 | Gabriele-de Vries syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ZFPM2 CL E G H | 23414 | 16700 | OMIM:187500 | Tetralogy of Fallot | . | | | 31 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ZFPM2 CL E G H | 23414 | 16700 | ORPHA:3303 | Tetralogy of Fallot | HP:0040281 - Very frequent | | | 31 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ZIC1 CL E G H | 7545 | 12872 | ORPHA:35099 | Isolated brachycephaly | HP:0040281 - Very frequent | | | 5 | | |
HP:0000337 | HP:0000337 | Broad forehead | 0 | ZIC2 CL E G H | 7546 | 12873 | OMIM:609637 | Holoprosencephaly 5 | . | | | 34 | | |