Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACADS CL E G H | 35 | 201470 | Deficiency of butyryl-CoA dehydrogenase | 201470 | C0342783 | OMIM | 1 | | 328 | 90 | 606885 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 434 | 1839 | 607575 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | AGRN CL E G H | 375790 | 615120 | Myasthenic syndrome, congenital, 8 | 615120 | C3808739 | OMIM | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 1 | | 48 | 33814 | 615358 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 293 | 26837 | 300647 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ANKH CL E G H | 56172 | 123000 | Craniometaphyseal dysplasia, autosomal dominant | 123000 | C1852502 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ANO5 CL E G H | 203859 | 611307 | Limb-girdle muscular dystrophy, type 2L | 611307 | C1969785 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHCHD10 CL E G H | 400916 | 616209 | Myopathy, isolated mitochondrial, autosomal dominant | 616209 | C4015513 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 419 | 1938 | 612395 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNB1 CL E G H | 1140 | 616313 | Myasthenic syndrome, congenital, 2a, slow-channel | 616313 | C4225374 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CLCF1 CL E G H | 23529 | 610313 | Cold-induced sweating syndrome 2 | 610313 | C1853198 | OMIM | 1 | | 33 | 17412 | 607672 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CLCN7 CL E G H | 1186 | 611490 | Osteopetrosis autosomal recessive 4 | 611490 | C1969106 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL12A1 CL E G H | 1303 | 616470 | Ullrich congenital muscular dystrophy 2 | 616470 | C4225314 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 80 | 2364 | 604237 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 818 | 2770 | 125660 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DNA2 CL E G H | 1763 | 615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 | C3554599 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 126 | 3954 | 601278 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GFPT1 CL E G H | 2673 | 610542 | Congenital myasthenic syndrome 12 | 610542 | C3552335 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GJA1 CL E G H | 2697 | 218400 | Craniometaphyseal dysplasia, autosomal recessive type | 218400 | C2931244 | OMIM | 1 | | 221 | 4274 | 121014 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 32 | 5111 | 142968 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KLHL40 CL E G H | 131377 | 615348 | Nemaline myopathy 8 | 615348 | C3809209 | OMIM | 1 | | 378 | 30372 | 615340 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 3283 | 6482 | 156225 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LARGE1 CL E G H | 9215 | 608840 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 608840 | C1837229 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LMOD3 CL E G H | 56203 | 616165 | Nemaline myopathy 10 | 616165 | C4015360 | OMIM | 1 | | 326 | 6649 | 616112 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP4 CL E G H | 4038 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP4 CL E G H | 4038 | 614305 | Sclerosteosis 2 | 614305 | C3280402 | OMIM | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | LRP5 CL E G H | 4041 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 1354 | 6697 | 603506 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | 603557 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 1 | | 496 | 7525 | 601296 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MUSK CL E G H | 4593 | 616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | 616325 | C4225368 | OMIM | 1 | | 496 | 7525 | 601296 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 1 | | 75 | 33778 | 615345 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | MYPN CL E G H | 84665 | 617336 | Nemaline myopathy 11, autosomal recessive | 617336 | C4479186 | OMIM | 1 | | 1263 | 23246 | 608517 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 206 | 26274 | 612803 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 1 | | 118 | 9107 | 604282 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POLG2 CL E G H | 11232 | 610131 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 610131 | C1864668 | OMIM | 1 | | 240 | 9180 | 604983 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | POMT2 CL E G H | 29954 | 613156 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 613156 | C3150416 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 1 | | 131 | 9587 | 612792 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 1 | | 433 | 9863 | 601592 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 1 | | 133 | 9968 | 602776 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RYR1 CL E G H | 6261 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | RYR1 CL E G H | 6261 | 255320 | Minicore myopathy | 255320 | C1850674 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SALL4 CL E G H | 57167 | 607323 | Duane-radial ray syndrome | 607323 | C1623209 | OMIM | 1 | | 211 | 15924 | 607343 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SELENON CL E G H | 57190 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SELENON CL E G H | 57190 | 602771 | Eichsfeld type congenital muscular dystrophy | 602771 | C0410180 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 451 | 10727 | 608166 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SGCD CL E G H | 6444 | 219 | Congenital giant megaureter | | | ORPHA | 1 | | 587 | 10807 | 601411 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC18A3 CL E G H | 6572 | 617239 | Myasthenic syndrome, congenital, 21, presynaptic | 617239 | C4310654 | OMIM | 1 | | 215 | 10936 | 600336 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 1 | | 176 | 20858 | 608736 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 458 | 30224 | 607882 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC52A2 CL E G H | 79581 | 614707 | Brown-Vialetto-Van Laere syndrome 2 | 614707 | C3553538 | OMIM | 1 | | 458 | 30224 | 607882 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 399 | 16187 | 613350 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC52A3 CL E G H | 113278 | 211530 | Brown-Vialetto-Van Laere syndrome 1 | 211530 | CN029849 | OMIM | 1 | | 399 | 16187 | 613350 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SLC5A7 CL E G H | 60482 | 617143 | Myasthenic syndrome, congenital, 20, presynaptic | 617143 | C4310694 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SNX10 CL E G H | 29887 | 615085 | Osteopetrosis, autosomal recessive 8 | 615085 | C3554478 | OMIM | 1 | | 111 | 14974 | 614780 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SOST CL E G H | 50964 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SOST CL E G H | 50964 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SPEG CL E G H | 10290 | 615959 | Myopathy, centronuclear, 5 | 615959 | C4014814 | OMIM | 1 | | 907 | 16901 | 615950 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | SQSTM1 CL E G H | 8878 | 617158 | Distal myopathy with rimmed vacuoles | 617158 | CN239822 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | | 860 | 11647 | 604592 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 1 | | 356 | 11831 | 188250 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TK2 CL E G H | 7084 | 617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 617069 | C4310734 | OMIM | 1 | | 356 | 11831 | 188250 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM2 CL E G H | 7169 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TPM3 CL E G H | 7170 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TRIM32 CL E G H | 22954 | 254110 | Sarcotubular myopathy | 254110 | C0270968 | OMIM | 1 | | 516 | 16380 | 602290 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TRPV4 CL E G H | 59341 | 181405 | Scapuloperoneal spinal muscular atrophy | 181405 | C0751335 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | TTN CL E G H | 7273 | 611705 | Myopathy, early-onset, with fatal cardiomyopathy | 611705 | C2673677 | OMIM | 1 | | 22859 | 12403 | 188840 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0010628 | HP:0010628 | Facial palsy | 0 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ACADS CL E G H | 35 | 201470 | Deficiency of butyryl-CoA dehydrogenase | 201470 | C0342783 | OMIM | 1 | | 328 | 90 | 606885 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ACADS CL E G H | 35 | 201470 | Deficiency of butyryl-CoA dehydrogenase | 201470 | C0342783 | OMIM | 1 | | 328 | 90 | 606885 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ACADS CL E G H | 35 | 201470 | Deficiency of butyryl-CoA dehydrogenase | 201470 | C0342783 | OMIM | 1 | | 328 | 90 | 606885 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ACADS CL E G H | 35 | 201470 | Deficiency of butyryl-CoA dehydrogenase | 201470 | C0342783 | OMIM | 1 | | 328 | 90 | 606885 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 434 | 1839 | 607575 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 434 | 1839 | 607575 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 434 | 1839 | 607575 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 434 | 1839 | 607575 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | AGRN CL E G H | 375790 | 615120 | Myasthenic syndrome, congenital, 8 | 615120 | C3808739 | OMIM | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | AGRN CL E G H | 375790 | 615120 | Myasthenic syndrome, congenital, 8 | 615120 | C3808739 | OMIM | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | AGRN CL E G H | 375790 | 615120 | Myasthenic syndrome, congenital, 8 | 615120 | C3808739 | OMIM | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | AGRN CL E G H | 375790 | 615120 | Myasthenic syndrome, congenital, 8 | 615120 | C3808739 | OMIM | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 1 | | 48 | 33814 | 615358 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 1 | | 48 | 33814 | 615358 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 1 | | 48 | 33814 | 615358 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 1 | | 48 | 33814 | 615358 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 293 | 26837 | 300647 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 293 | 26837 | 300647 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 293 | 26837 | 300647 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 293 | 26837 | 300647 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ANKH CL E G H | 56172 | 123000 | Craniometaphyseal dysplasia, autosomal dominant | 123000 | C1852502 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ANKH CL E G H | 56172 | 123000 | Craniometaphyseal dysplasia, autosomal dominant | 123000 | C1852502 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ANKH CL E G H | 56172 | 123000 | Craniometaphyseal dysplasia, autosomal dominant | 123000 | C1852502 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ANKH CL E G H | 56172 | 123000 | Craniometaphyseal dysplasia, autosomal dominant | 123000 | C1852502 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ANO5 CL E G H | 203859 | 611307 | Limb-girdle muscular dystrophy, type 2L | 611307 | C1969785 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ANO5 CL E G H | 203859 | 611307 | Limb-girdle muscular dystrophy, type 2L | 611307 | C1969785 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ANO5 CL E G H | 203859 | 611307 | Limb-girdle muscular dystrophy, type 2L | 611307 | C1969785 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ANO5 CL E G H | 203859 | 611307 | Limb-girdle muscular dystrophy, type 2L | 611307 | C1969785 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHCHD10 CL E G H | 400916 | 616209 | Myopathy, isolated mitochondrial, autosomal dominant | 616209 | C4015513 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHCHD10 CL E G H | 400916 | 616209 | Myopathy, isolated mitochondrial, autosomal dominant | 616209 | C4015513 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHCHD10 CL E G H | 400916 | 616209 | Myopathy, isolated mitochondrial, autosomal dominant | 616209 | C4015513 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHCHD10 CL E G H | 400916 | 616209 | Myopathy, isolated mitochondrial, autosomal dominant | 616209 | C4015513 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 419 | 1938 | 612395 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 419 | 1938 | 612395 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 419 | 1938 | 612395 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 419 | 1938 | 612395 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHRNB1 CL E G H | 1140 | 616313 | Myasthenic syndrome, congenital, 2a, slow-channel | 616313 | C4225374 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHRNB1 CL E G H | 1140 | 616313 | Myasthenic syndrome, congenital, 2a, slow-channel | 616313 | C4225374 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHRNB1 CL E G H | 1140 | 616313 | Myasthenic syndrome, congenital, 2a, slow-channel | 616313 | C4225374 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHRNB1 CL E G H | 1140 | 616313 | Myasthenic syndrome, congenital, 2a, slow-channel | 616313 | C4225374 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CLCF1 CL E G H | 23529 | 610313 | Cold-induced sweating syndrome 2 | 610313 | C1853198 | OMIM | 1 | | 33 | 17412 | 607672 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CLCF1 CL E G H | 23529 | 610313 | Cold-induced sweating syndrome 2 | 610313 | C1853198 | OMIM | 1 | | 33 | 17412 | 607672 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CLCF1 CL E G H | 23529 | 610313 | Cold-induced sweating syndrome 2 | 610313 | C1853198 | OMIM | 1 | | 33 | 17412 | 607672 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CLCF1 CL E G H | 23529 | 610313 | Cold-induced sweating syndrome 2 | 610313 | C1853198 | OMIM | 1 | | 33 | 17412 | 607672 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CLCN7 CL E G H | 1186 | 611490 | Osteopetrosis autosomal recessive 4 | 611490 | C1969106 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CLCN7 CL E G H | 1186 | 611490 | Osteopetrosis autosomal recessive 4 | 611490 | C1969106 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CLCN7 CL E G H | 1186 | 611490 | Osteopetrosis autosomal recessive 4 | 611490 | C1969106 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CLCN7 CL E G H | 1186 | 611490 | Osteopetrosis autosomal recessive 4 | 611490 | C1969106 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | COL12A1 CL E G H | 1303 | 616470 | Ullrich congenital muscular dystrophy 2 | 616470 | C4225314 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | COL12A1 CL E G H | 1303 | 616470 | Ullrich congenital muscular dystrophy 2 | 616470 | C4225314 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | COL12A1 CL E G H | 1303 | 616470 | Ullrich congenital muscular dystrophy 2 | 616470 | C4225314 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | COL12A1 CL E G H | 1303 | 616470 | Ullrich congenital muscular dystrophy 2 | 616470 | C4225314 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 80 | 2364 | 604237 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 80 | 2364 | 604237 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 80 | 2364 | 604237 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 80 | 2364 | 604237 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 818 | 2770 | 125660 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 818 | 2770 | 125660 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 818 | 2770 | 125660 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 818 | 2770 | 125660 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | DNA2 CL E G H | 1763 | 615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 | C3554599 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | DNA2 CL E G H | 1763 | 615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 | C3554599 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | DNA2 CL E G H | 1763 | 615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 | C3554599 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | DNA2 CL E G H | 1763 | 615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 | C3554599 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 126 | 3954 | 601278 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 126 | 3954 | 601278 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 126 | 3954 | 601278 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 126 | 3954 | 601278 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | GFPT1 CL E G H | 2673 | 610542 | Congenital myasthenic syndrome 12 | 610542 | C3552335 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | GFPT1 CL E G H | 2673 | 610542 | Congenital myasthenic syndrome 12 | 610542 | C3552335 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | GFPT1 CL E G H | 2673 | 610542 | Congenital myasthenic syndrome 12 | 610542 | C3552335 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | GFPT1 CL E G H | 2673 | 610542 | Congenital myasthenic syndrome 12 | 610542 | C3552335 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | GJA1 CL E G H | 2697 | 218400 | Craniometaphyseal dysplasia, autosomal recessive type | 218400 | C2931244 | OMIM | 1 | | 221 | 4274 | 121014 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | GJA1 CL E G H | 2697 | 218400 | Craniometaphyseal dysplasia, autosomal recessive type | 218400 | C2931244 | OMIM | 1 | | 221 | 4274 | 121014 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | GJA1 CL E G H | 2697 | 218400 | Craniometaphyseal dysplasia, autosomal recessive type | 218400 | C2931244 | OMIM | 1 | | 221 | 4274 | 121014 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | GJA1 CL E G H | 2697 | 218400 | Craniometaphyseal dysplasia, autosomal recessive type | 218400 | C2931244 | OMIM | 1 | | 221 | 4274 | 121014 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 32 | 5111 | 142968 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 32 | 5111 | 142968 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 32 | 5111 | 142968 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 32 | 5111 | 142968 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | KLHL40 CL E G H | 131377 | 615348 | Nemaline myopathy 8 | 615348 | C3809209 | OMIM | 1 | | 378 | 30372 | 615340 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | KLHL40 CL E G H | 131377 | 615348 | Nemaline myopathy 8 | 615348 | C3809209 | OMIM | 1 | | 378 | 30372 | 615340 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | KLHL40 CL E G H | 131377 | 615348 | Nemaline myopathy 8 | 615348 | C3809209 | OMIM | 1 | | 378 | 30372 | 615340 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | KLHL40 CL E G H | 131377 | 615348 | Nemaline myopathy 8 | 615348 | C3809209 | OMIM | 1 | | 378 | 30372 | 615340 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 3283 | 6482 | 156225 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 3283 | 6482 | 156225 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 3283 | 6482 | 156225 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 3283 | 6482 | 156225 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | LARGE1 CL E G H | 9215 | 608840 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 608840 | C1837229 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | LARGE1 CL E G H | 9215 | 608840 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 608840 | C1837229 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | LARGE1 CL E G H | 9215 | 608840 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 608840 | C1837229 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | LARGE1 CL E G H | 9215 | 608840 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 608840 | C1837229 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | LMOD3 CL E G H | 56203 | 616165 | Nemaline myopathy 10 | 616165 | C4015360 | OMIM | 1 | | 326 | 6649 | 616112 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | LMOD3 CL E G H | 56203 | 616165 | Nemaline myopathy 10 | 616165 | C4015360 | OMIM | 1 | | 326 | 6649 | 616112 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | LMOD3 CL E G H | 56203 | 616165 | Nemaline myopathy 10 | 616165 | C4015360 | OMIM | 1 | | 326 | 6649 | 616112 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | LMOD3 CL E G H | 56203 | 616165 | Nemaline myopathy 10 | 616165 | C4015360 | OMIM | 1 | | 326 | 6649 | 616112 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | LRP4 CL E G H | 4038 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | LRP4 CL E G H | 4038 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | LRP4 CL E G H | 4038 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | LRP4 CL E G H | 4038 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | LRP4 CL E G H | 4038 | 614305 | Sclerosteosis 2 | 614305 | C3280402 | OMIM | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | LRP4 CL E G H | 4038 | 614305 | Sclerosteosis 2 | 614305 | C3280402 | OMIM | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | LRP4 CL E G H | 4038 | 614305 | Sclerosteosis 2 | 614305 | C3280402 | OMIM | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | LRP4 CL E G H | 4038 | 614305 | Sclerosteosis 2 | 614305 | C3280402 | OMIM | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | LRP5 CL E G H | 4041 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 1354 | 6697 | 603506 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | LRP5 CL E G H | 4041 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 1354 | 6697 | 603506 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | LRP5 CL E G H | 4041 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 1354 | 6697 | 603506 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | LRP5 CL E G H | 4041 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 1354 | 6697 | 603506 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | 603557 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | 603557 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | 603557 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | 603557 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 1 | | 496 | 7525 | 601296 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 1 | | 496 | 7525 | 601296 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 1 | | 496 | 7525 | 601296 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MUSK CL E G H | 4593 | 98913 | | | | ORPHA | 1 | | 496 | 7525 | 601296 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MUSK CL E G H | 4593 | 616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | 616325 | C4225368 | OMIM | 1 | | 496 | 7525 | 601296 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MUSK CL E G H | 4593 | 616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | 616325 | C4225368 | OMIM | 1 | | 496 | 7525 | 601296 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MUSK CL E G H | 4593 | 616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | 616325 | C4225368 | OMIM | 1 | | 496 | 7525 | 601296 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MUSK CL E G H | 4593 | 616325 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | 616325 | C4225368 | OMIM | 1 | | 496 | 7525 | 601296 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MYH7 CL E G H | 4625 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MYH7 CL E G H | 4625 | 160500 | Myopathy, distal, 1 | 160500 | CN074249 | OMIM | 1 | | 3612 | 7577 | 160760 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 1 | | 75 | 33778 | 615345 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 1 | | 75 | 33778 | 615345 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 1 | | 75 | 33778 | 615345 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 1 | | 75 | 33778 | 615345 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MYMK CL E G H | 389827 | 254940 | Congenital nonprogressive myopathy with Moebius and Robin sequences | 254940 | C1850746 | OMIM | 1 | | 75 | 33778 | 615345 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | MYPN CL E G H | 84665 | 617336 | Nemaline myopathy 11, autosomal recessive | 617336 | C4479186 | OMIM | 1 | | 1263 | 23246 | 608517 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | MYPN CL E G H | 84665 | 617336 | Nemaline myopathy 11, autosomal recessive | 617336 | C4479186 | OMIM | 1 | | 1263 | 23246 | 608517 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | MYPN CL E G H | 84665 | 617336 | Nemaline myopathy 11, autosomal recessive | 617336 | C4479186 | OMIM | 1 | | 1263 | 23246 | 608517 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | MYPN CL E G H | 84665 | 617336 | Nemaline myopathy 11, autosomal recessive | 617336 | C4479186 | OMIM | 1 | | 1263 | 23246 | 608517 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 206 | 26274 | 612803 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 206 | 26274 | 612803 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 206 | 26274 | 612803 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | NARS2 CL E G H | 79731 | 616239 | Combined oxidative phosphorylation deficiency 24 | 616239 | C4015643 | OMIM | 1 | | 206 | 26274 | 612803 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 6444 | 7720 | 161650 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | PABPN1 CL E G H | 8106 | 164300 | Oculopharyngeal muscular dystrophy | 164300 | C0270952 | OMIM | 1 | | 63 | 8565 | 602279 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 1 | | 118 | 9107 | 604282 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 1 | | 118 | 9107 | 604282 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 1 | | 118 | 9107 | 604282 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 1 | | 118 | 9107 | 604282 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | POLG CL E G H | 5428 | 254886 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | POLG CL E G H | 5428 | 157640 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1 | 157640 | C1834846 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | POLG CL E G H | 5428 | 258450 | Cerebellar ataxia infantile with progressive external ophthalmoplegia | 258450 | C1850303 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | POLG2 CL E G H | 11232 | 610131 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 610131 | C1864668 | OMIM | 1 | | 240 | 9180 | 604983 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | POLG2 CL E G H | 11232 | 610131 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 610131 | C1864668 | OMIM | 1 | | 240 | 9180 | 604983 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | POLG2 CL E G H | 11232 | 610131 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 610131 | C1864668 | OMIM | 1 | | 240 | 9180 | 604983 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | POLG2 CL E G H | 11232 | 610131 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 | 610131 | C1864668 | OMIM | 1 | | 240 | 9180 | 604983 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | POMT2 CL E G H | 29954 | 613156 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 613156 | C3150416 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | POMT2 CL E G H | 29954 | 613156 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 613156 | C3150416 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | POMT2 CL E G H | 29954 | 613156 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 613156 | C3150416 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | POMT2 CL E G H | 29954 | 613156 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 | 613156 | C3150416 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 1 | | 131 | 9587 | 612792 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 1 | | 131 | 9587 | 612792 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 1 | | 131 | 9587 | 612792 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | PTDSS1 CL E G H | 9791 | 2658 | | | | ORPHA | 1 | | 131 | 9587 | 612792 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | PYROXD1 CL E G H | 79912 | 617258 | Myopathy, myofibrillar, 8 | 617258 | C4310645 | OMIM | 1 | | 443 | 26162 | 617220 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 1 | | 433 | 9863 | 601592 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 1 | | 433 | 9863 | 601592 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 1 | | 433 | 9863 | 601592 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | RAPSN CL E G H | 5913 | 98913 | | | | ORPHA | 1 | | 433 | 9863 | 601592 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 1 | | 133 | 9968 | 602776 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 1 | | 133 | 9968 | 602776 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 1 | | 133 | 9968 | 602776 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 1 | | 133 | 9968 | 602776 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | RYR1 CL E G H | 6261 | 178145 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | RYR1 CL E G H | 6261 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | RYR1 CL E G H | 6261 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | RYR1 CL E G H | 6261 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | RYR1 CL E G H | 6261 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | RYR1 CL E G H | 6261 | 255320 | Minicore myopathy | 255320 | C1850674 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | RYR1 CL E G H | 6261 | 255320 | Minicore myopathy | 255320 | C1850674 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | RYR1 CL E G H | 6261 | 255320 | Minicore myopathy | 255320 | C1850674 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | RYR1 CL E G H | 6261 | 255320 | Minicore myopathy | 255320 | C1850674 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SALL4 CL E G H | 57167 | 607323 | Duane-radial ray syndrome | 607323 | C1623209 | OMIM | 1 | | 211 | 15924 | 607343 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SALL4 CL E G H | 57167 | 607323 | Duane-radial ray syndrome | 607323 | C1623209 | OMIM | 1 | | 211 | 15924 | 607343 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SALL4 CL E G H | 57167 | 607323 | Duane-radial ray syndrome | 607323 | C1623209 | OMIM | 1 | | 211 | 15924 | 607343 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SALL4 CL E G H | 57167 | 607323 | Duane-radial ray syndrome | 607323 | C1623209 | OMIM | 1 | | 211 | 15924 | 607343 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SCN4A CL E G H | 6329 | 98913 | | | | ORPHA | 1 | | 1391 | 10591 | 603967 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SELENON CL E G H | 57190 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SELENON CL E G H | 57190 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SELENON CL E G H | 57190 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SELENON CL E G H | 57190 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SELENON CL E G H | 57190 | 602771 | Eichsfeld type congenital muscular dystrophy | 602771 | C0410180 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SELENON CL E G H | 57190 | 602771 | Eichsfeld type congenital muscular dystrophy | 602771 | C0410180 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SELENON CL E G H | 57190 | 602771 | Eichsfeld type congenital muscular dystrophy | 602771 | C0410180 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SELENON CL E G H | 57190 | 602771 | Eichsfeld type congenital muscular dystrophy | 602771 | C0410180 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 451 | 10727 | 608166 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 451 | 10727 | 608166 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 451 | 10727 | 608166 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 451 | 10727 | 608166 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SGCD CL E G H | 6444 | 219 | Congenital giant megaureter | | | ORPHA | 1 | | 587 | 10807 | 601411 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SGCD CL E G H | 6444 | 219 | Congenital giant megaureter | | | ORPHA | 1 | | 587 | 10807 | 601411 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SGCD CL E G H | 6444 | 219 | Congenital giant megaureter | | | ORPHA | 1 | | 587 | 10807 | 601411 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SGCD CL E G H | 6444 | 219 | Congenital giant megaureter | | | ORPHA | 1 | | 587 | 10807 | 601411 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SH3TC2 CL E G H | 79628 | 601596 | Charcot-Marie-Tooth disease, type 4C | 601596 | C1866636 | OMIM | 1 | | 1483 | 29427 | 608206 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC18A3 CL E G H | 6572 | 617239 | Myasthenic syndrome, congenital, 21, presynaptic | 617239 | C4310654 | OMIM | 1 | | 215 | 10936 | 600336 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC18A3 CL E G H | 6572 | 617239 | Myasthenic syndrome, congenital, 21, presynaptic | 617239 | C4310654 | OMIM | 1 | | 215 | 10936 | 600336 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SLC18A3 CL E G H | 6572 | 617239 | Myasthenic syndrome, congenital, 21, presynaptic | 617239 | C4310654 | OMIM | 1 | | 215 | 10936 | 600336 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SLC18A3 CL E G H | 6572 | 617239 | Myasthenic syndrome, congenital, 21, presynaptic | 617239 | C4310654 | OMIM | 1 | | 215 | 10936 | 600336 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC25A4 CL E G H | 291 | 609283 | Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 | 609283 | C1836460 | OMIM | 1 | | 278 | 10990 | 103220 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 1 | | 176 | 20858 | 608736 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 1 | | 176 | 20858 | 608736 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 1 | | 176 | 20858 | 608736 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC39A14 CL E G H | 23516 | 144755 | Hyperostosis cranialis interna | 144755 | C1840404 | OMIM | 1 | | 176 | 20858 | 608736 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 458 | 30224 | 607882 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 458 | 30224 | 607882 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 458 | 30224 | 607882 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 458 | 30224 | 607882 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC52A2 CL E G H | 79581 | 614707 | Brown-Vialetto-Van Laere syndrome 2 | 614707 | C3553538 | OMIM | 1 | | 458 | 30224 | 607882 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SLC52A2 CL E G H | 79581 | 614707 | Brown-Vialetto-Van Laere syndrome 2 | 614707 | C3553538 | OMIM | 1 | | 458 | 30224 | 607882 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SLC52A2 CL E G H | 79581 | 614707 | Brown-Vialetto-Van Laere syndrome 2 | 614707 | C3553538 | OMIM | 1 | | 458 | 30224 | 607882 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC52A2 CL E G H | 79581 | 614707 | Brown-Vialetto-Van Laere syndrome 2 | 614707 | C3553538 | OMIM | 1 | | 458 | 30224 | 607882 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 399 | 16187 | 613350 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 399 | 16187 | 613350 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 399 | 16187 | 613350 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 399 | 16187 | 613350 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC52A3 CL E G H | 113278 | 211530 | Brown-Vialetto-Van Laere syndrome 1 | 211530 | CN029849 | OMIM | 1 | | 399 | 16187 | 613350 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SLC52A3 CL E G H | 113278 | 211530 | Brown-Vialetto-Van Laere syndrome 1 | 211530 | CN029849 | OMIM | 1 | | 399 | 16187 | 613350 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SLC52A3 CL E G H | 113278 | 211530 | Brown-Vialetto-Van Laere syndrome 1 | 211530 | CN029849 | OMIM | 1 | | 399 | 16187 | 613350 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC52A3 CL E G H | 113278 | 211530 | Brown-Vialetto-Van Laere syndrome 1 | 211530 | CN029849 | OMIM | 1 | | 399 | 16187 | 613350 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SLC5A7 CL E G H | 60482 | 617143 | Myasthenic syndrome, congenital, 20, presynaptic | 617143 | C4310694 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SLC5A7 CL E G H | 60482 | 617143 | Myasthenic syndrome, congenital, 20, presynaptic | 617143 | C4310694 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SLC5A7 CL E G H | 60482 | 617143 | Myasthenic syndrome, congenital, 20, presynaptic | 617143 | C4310694 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SLC5A7 CL E G H | 60482 | 617143 | Myasthenic syndrome, congenital, 20, presynaptic | 617143 | C4310694 | OMIM | 1 | | 375 | 14025 | 608761 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SNX10 CL E G H | 29887 | 615085 | Osteopetrosis, autosomal recessive 8 | 615085 | C3554478 | OMIM | 1 | | 111 | 14974 | 614780 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SNX10 CL E G H | 29887 | 615085 | Osteopetrosis, autosomal recessive 8 | 615085 | C3554478 | OMIM | 1 | | 111 | 14974 | 614780 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SNX10 CL E G H | 29887 | 615085 | Osteopetrosis, autosomal recessive 8 | 615085 | C3554478 | OMIM | 1 | | 111 | 14974 | 614780 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SNX10 CL E G H | 29887 | 615085 | Osteopetrosis, autosomal recessive 8 | 615085 | C3554478 | OMIM | 1 | | 111 | 14974 | 614780 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SOST CL E G H | 50964 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SOST CL E G H | 50964 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SOST CL E G H | 50964 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SOST CL E G H | 50964 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SOST CL E G H | 50964 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SOST CL E G H | 50964 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SOST CL E G H | 50964 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SOST CL E G H | 50964 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SOST CL E G H | 50964 | 269500 | Sclerosteosis 1 | 269500 | CN032489 | OMIM | 1 | | 85 | 13771 | 605740 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SPEG CL E G H | 10290 | 615959 | Myopathy, centronuclear, 5 | 615959 | C4014814 | OMIM | 1 | | 907 | 16901 | 615950 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SPEG CL E G H | 10290 | 615959 | Myopathy, centronuclear, 5 | 615959 | C4014814 | OMIM | 1 | | 907 | 16901 | 615950 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SPEG CL E G H | 10290 | 615959 | Myopathy, centronuclear, 5 | 615959 | C4014814 | OMIM | 1 | | 907 | 16901 | 615950 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SPEG CL E G H | 10290 | 615959 | Myopathy, centronuclear, 5 | 615959 | C4014814 | OMIM | 1 | | 907 | 16901 | 615950 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SPTBN4 CL E G H | 57731 | 617519 | Myopathy, congenital, with neuropathy and deafness | 617519 | C4479603 | OMIM | 1 | | 140 | 14896 | 606214 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | SQSTM1 CL E G H | 8878 | 617158 | Distal myopathy with rimmed vacuoles | 617158 | CN239822 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | SQSTM1 CL E G H | 8878 | 617158 | Distal myopathy with rimmed vacuoles | 617158 | CN239822 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | SQSTM1 CL E G H | 8878 | 617158 | Distal myopathy with rimmed vacuoles | 617158 | CN239822 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | SQSTM1 CL E G H | 8878 | 617158 | Distal myopathy with rimmed vacuoles | 617158 | CN239822 | OMIM | 1 | | 542 | 11280 | 601530 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | | 860 | 11647 | 604592 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | | 860 | 11647 | 604592 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | | 860 | 11647 | 604592 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | TCIRG1 CL E G H | 10312 | 259700 | Osteopetrosis autosomal recessive 1 | 259700 | C1850127 | OMIM | 1 | | 860 | 11647 | 604592 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 1 | | 356 | 11831 | 188250 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 1 | | 356 | 11831 | 188250 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 1 | | 356 | 11831 | 188250 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | TK2 CL E G H | 7084 | 254886 | | | | ORPHA | 1 | | 356 | 11831 | 188250 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | TK2 CL E G H | 7084 | 617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 617069 | C4310734 | OMIM | 1 | | 356 | 11831 | 188250 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TK2 CL E G H | 7084 | 617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 617069 | C4310734 | OMIM | 1 | | 356 | 11831 | 188250 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | TK2 CL E G H | 7084 | 617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 617069 | C4310734 | OMIM | 1 | | 356 | 11831 | 188250 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | TK2 CL E G H | 7084 | 617069 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 617069 | C4310734 | OMIM | 1 | | 356 | 11831 | 188250 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TPM2 CL E G H | 7169 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | TPM2 CL E G H | 7169 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | TPM2 CL E G H | 7169 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | TPM2 CL E G H | 7169 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 280 | 12011 | 190990 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | TPM3 CL E G H | 7170 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TPM3 CL E G H | 7170 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | TPM3 CL E G H | 7170 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | TPM3 CL E G H | 7170 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 300 | 12012 | 191030 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TRIM32 CL E G H | 22954 | 254110 | Sarcotubular myopathy | 254110 | C0270968 | OMIM | 1 | | 516 | 16380 | 602290 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | TRIM32 CL E G H | 22954 | 254110 | Sarcotubular myopathy | 254110 | C0270968 | OMIM | 1 | | 516 | 16380 | 602290 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | TRIM32 CL E G H | 22954 | 254110 | Sarcotubular myopathy | 254110 | C0270968 | OMIM | 1 | | 516 | 16380 | 602290 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | TRIM32 CL E G H | 22954 | 254110 | Sarcotubular myopathy | 254110 | C0270968 | OMIM | 1 | | 516 | 16380 | 602290 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | TRPV4 CL E G H | 59341 | 181405 | Scapuloperoneal spinal muscular atrophy | 181405 | C0751335 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TRPV4 CL E G H | 59341 | 181405 | Scapuloperoneal spinal muscular atrophy | 181405 | C0751335 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | TRPV4 CL E G H | 59341 | 181405 | Scapuloperoneal spinal muscular atrophy | 181405 | C0751335 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | TRPV4 CL E G H | 59341 | 181405 | Scapuloperoneal spinal muscular atrophy | 181405 | C0751335 | OMIM | 1 | | 891 | 18083 | 605427 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | TTN CL E G H | 7273 | 611705 | Myopathy, early-onset, with fatal cardiomyopathy | 611705 | C2673677 | OMIM | 1 | | 22859 | 12403 | 188840 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | TTN CL E G H | 7273 | 611705 | Myopathy, early-onset, with fatal cardiomyopathy | 611705 | C2673677 | OMIM | 1 | | 22859 | 12403 | 188840 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | TTN CL E G H | 7273 | 611705 | Myopathy, early-onset, with fatal cardiomyopathy | 611705 | C2673677 | OMIM | 1 | | 22859 | 12403 | 188840 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | TTN CL E G H | 7273 | 611705 | Myopathy, early-onset, with fatal cardiomyopathy | 611705 | C2673677 | OMIM | 1 | | 22859 | 12403 | 188840 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | UBA1 CL E G H | 7317 | 301830 | Spinal muscular atrophy, X-linked 2 | 301830 | C1844934 | OMIM | 1 | | 531 | 12469 | 314370 |
HP:0010628 | HP:0004661 | Frontalis muscle weakness | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010628 | HP:0001349 | Facial diplegia | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010628 | HP:0430025 | Bilateral facial palsy | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010628 | HP:0012799 | Unilateral facial palsy | 1 | ZC4H2 CL E G H | 55906 | 314580 | Wieacker Wolff syndrome | 314580 | C0796200 | OMIM | 1 | | 237 | 24931 | 300897 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ACADS CL E G H | 35 | 201470 | Deficiency of butyryl-CoA dehydrogenase | 201470 | C0342783 | OMIM | 1 | | 328 | 90 | 606885 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ACTA1 CL E G H | 58 | 97240 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ACTA1 CL E G H | 58 | 255310 | Congenital myopathy with fiber type disproportion | 255310 | C0546264 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ACTA1 CL E G H | 58 | 616852 | Myopathy, scapulohumeroperoneal | 616852 | C4225181 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ACTA1 CL E G H | 58 | 161800 | Nemaline myopathy 3 | 161800 | C3711389 | OMIM | 1 | | 392 | 129 | 102610 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ADA2 CL E G H | 51816 | 182410 | Idiopathic livedo reticularis with systemic involvement | 182410 | C0282492 | OMIM | 1 | | 434 | 1839 | 607575 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ADSSL1 CL E G H | 122622 | 617030 | Myopathy, distal, 5 | 617030 | C4310754 | OMIM | 1 | | | 20093 | 612498 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | AGRN CL E G H | 375790 | 98913 | | | | ORPHA | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | AGRN CL E G H | 375790 | 615120 | Myasthenic syndrome, congenital, 8 | 615120 | C3808739 | OMIM | 1 | | 1782 | 329 | 103320 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | AK9 CL E G H | 221264 | 98913 | | | | ORPHA | 1 | | 48 | 33814 | 615358 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | AMER1 CL E G H | 139285 | 300373 | Osteopathia striata with cranial sclerosis | 300373 | C0432268 | OMIM | 1 | | 293 | 26837 | 300647 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ANKH CL E G H | 56172 | 123000 | Craniometaphyseal dysplasia, autosomal dominant | 123000 | C1852502 | OMIM | 1 | | 457 | 15492 | 605145 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ANO5 CL E G H | 203859 | 611307 | Limb-girdle muscular dystrophy, type 2L | 611307 | C1969785 | OMIM | 1 | | 972 | 27337 | 608662 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | ASAH1 CL E G H | 427 | 159950 | Jankovic Rivera syndrome | 159950 | C1834569 | OMIM | 1 | | 712 | 735 | 613468 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | BAG3 CL E G H | 9531 | 612954 | Myofibrillar myopathy, BAG3-related | 612954 | C2751831 | OMIM | 1 | | 856 | 939 | 603883 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | BIN1 CL E G H | 274 | 255200 | Autosomal recessive centronuclear myopathy | 255200 | C0410204 | OMIM | 1 | | 552 | 1052 | 601248 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHCHD10 CL E G H | 400916 | 616209 | Myopathy, isolated mitochondrial, autosomal dominant | 616209 | C4015513 | OMIM | 1 | | 248 | 15559 | 615903 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHKB CL E G H | 1120 | 602541 | Muscular dystrophy, congenital, megaconial type | 602541 | C1865233 | OMIM | 1 | | 419 | 1938 | 612395 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHRNA1 CL E G H | 1134 | 98913 | | | | ORPHA | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHRNA1 CL E G H | 1134 | 608930 | Congenital myasthenic syndrome 1B, fast-channel | 608930 | C1837122 | OMIM | 1 | | 398 | 1955 | 100690 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHRNB1 CL E G H | 1140 | 98913 | | | | ORPHA | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHRNB1 CL E G H | 1140 | 616313 | Myasthenic syndrome, congenital, 2a, slow-channel | 616313 | C4225374 | OMIM | 1 | | 357 | 1961 | 100710 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHRND CL E G H | 1144 | 98913 | | | | ORPHA | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHRND CL E G H | 1144 | 616322 | Myasthenic syndrome, congenital, 3b, fast-channel | 616322 | C4225371 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHRND CL E G H | 1144 | 616323 | Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency | 616323 | C4225370 | OMIM | 1 | | 408 | 1965 | 100720 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHRNE CL E G H | 1145 | 98913 | | | | ORPHA | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHRNE CL E G H | 1145 | 616324 | Myasthenic syndrome, congenital, 4b, fast-channel | 616324 | C4225369 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CHRNE CL E G H | 1145 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 795 | 1966 | 100725 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CLCF1 CL E G H | 23529 | 610313 | Cold-induced sweating syndrome 2 | 610313 | C1853198 | OMIM | 1 | | 33 | 17412 | 607672 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CLCN7 CL E G H | 1186 | 53 | | | | ORPHA | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CLCN7 CL E G H | 1186 | 166600 | Osteopetrosis autosomal dominant type 2 | 166600 | C3179239 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CLCN7 CL E G H | 1186 | 611490 | Osteopetrosis autosomal recessive 4 | 611490 | C1969106 | OMIM | 1 | | 729 | 2025 | 602727 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | COL12A1 CL E G H | 1303 | 616470 | Ullrich congenital muscular dystrophy 2 | 616470 | C4225314 | OMIM | 1 | | 1944 | 2188 | 120320 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | COL13A1 CL E G H | 1305 | 98913 | | | | ORPHA | 1 | | 397 | 2190 | 120350 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | COL6A1 CL E G H | 1291 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1470 | 2211 | 120220 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | COL6A2 CL E G H | 1292 | 255600 | Myosclerosis, autosomal recessive | 255600 | C1850671 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | COL6A2 CL E G H | 1292 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 1644 | 2212 | 120240 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | COL6A3 CL E G H | 1293 | 254090 | Ullrich congenital muscular dystrophy 1 | 254090 | CN033863 | OMIM | 1 | | 2414 | 2213 | 120250 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | CRLF1 CL E G H | 9244 | 272430 | Cold-induced sweating syndrome 1 | 272430 | C1848947 | OMIM | 1 | | 80 | 2364 | 604237 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | DCTN1 CL E G H | 1639 | 607641 | Distal hereditary motor neuronopathy type 7B | 607641 | C1843315 | OMIM | 1 | | 858 | 2711 | 601143 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | DES CL E G H | 1674 | 601419 | Myofibrillar myopathy 1 | 601419 | C1832370 | OMIM | 1 | | 818 | 2770 | 125660 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | DNA2 CL E G H | 1763 | 615156 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | 615156 | C3554599 | OMIM | 1 | | 331 | 2939 | 601810 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | DNM2 CL E G H | 1785 | 160150 | Myopathy, centronuclear, 1 | 160150 | C1834558 | OMIM | 1 | | 885 | 2974 | 602378 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | DOK7 CL E G H | 285489 | 98913 | | | | ORPHA | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | DOK7 CL E G H | 285489 | 254300 | Myasthenia, limb-girdle, familial | 254300 | C1850792 | OMIM | 1 | | 840 | 26594 | 610285 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | FKRP CL E G H | 79147 | 606612 | Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 | 606612 | C1847759 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 126 | 3954 | 601278 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | GAN CL E G H | 8139 | 643 | | | | ORPHA | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | GAN CL E G H | 8139 | 256850 | Giant axonal neuropathy | 256850 | C1850386 | OMIM | 1 | | 661 | 4137 | 605379 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | GFPT1 CL E G H | 2673 | 610542 | Congenital myasthenic syndrome 12 | 610542 | C3552335 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | GFPT1 CL E G H | 2673 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | 608931 | C1837091 | OMIM | 1 | | 453 | 4241 | 138292 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | GJA1 CL E G H | 2697 | 218400 | Craniometaphyseal dysplasia, autosomal recessive type | 218400 | C2931244 | OMIM | 1 | | 221 | 4274 | 121014 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | GJC2 CL E G H | 57165 | 608804 | Leukodystrophy, hypomyelinating, 2 | 608804 | C1837355 | OMIM | 1 | | 250 | 17494 | 608803 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | HOXB1 CL E G H | 3211 | 614744 | Hereditary congenital facial paresis 3 | 614744 | C3553625 | OMIM | 1 | | 32 | 5111 | 142968 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | KLHL40 CL E G H | 131377 | 615348 | Nemaline myopathy 8 | 615348 | C3809209 | OMIM | 1 | | 378 | 30372 | 615340 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 87 | 26576 | 605739 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 3283 | 6482 | 156225 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | LARGE1 CL E G H | 9215 | 608840 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 | 608840 | C1837229 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | LMOD3 CL E G H | 56203 | 616165 | Nemaline myopathy 10 | 616165 | C4015360 | OMIM | 1 | | 326 | 6649 | 616112 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | LRP4 CL E G H | 4038 | 98913 | | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | LRP4 CL E G H | 4038 | 3152 | Kuster syndrome | | | ORPHA | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | LRP4 CL E G H | 4038 | 614305 | Sclerosteosis 2 | 614305 | C3280402 | OMIM | 1 | | 790 | 6696 | 604270 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | LRP5 CL E G H | 4041 | 3416 | Mathieu De Broca Bony syndrome | | | ORPHA | 1 | | 1354 | 6697 | 603506 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | MEGF10 CL E G H | 84466 | 614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | 614399 | C3280679 | OMIM | 1 | | 794 | 29634 | 612453 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | MGME1 CL E G H | 92667 | 615084 | Mitochondrial DNA depletion syndrome 11 | 615084 | C3554462 | OMIM | 1 | | 78 | 16205 | 615076 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | MTM1 CL E G H | 4534 | 310400 | Severe X-linked myotubular myopathy | 310400 | C0410203 | OMIM | 1 | | 720 | 7448 | 300415 |
HP:0010628 | HP:0007188 | Congenital facial diplegia | 2 | MTMR2 CL E G H | 8898 | 601382 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | C1832399 | OMIM | 1 | | 460 | 7450 | |