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:0001252 | HP:0001252 | Hypotonia | 0 | A2ML1 CL E G H | 144568 | 648 | | | | ORPHA | 1 | | 1146 | 23336 | 610627 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AASS CL E G H | 10157 | 238700 | Hyperlysinemia | 238700 | C0268553 | OMIM | 1 | | 118 | 17366 | 605113 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACAD8 CL E G H | 27034 | 611283 | Deficiency of isobutyryl-CoA dehydrogenase | 611283 | C1969809 | OMIM | 1 | | 304 | 87 | 604773 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACADM CL E G H | 34 | 201450 | Medium-chain acyl-coenzyme A dehydrogenase deficiency | 201450 | C0220710 | OMIM | 1 | | 635 | 89 | 607008 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACADS CL E G H | 35 | 201470 | Deficiency of butyryl-CoA dehydrogenase | 201470 | C0342783 | OMIM | 1 | | 328 | 90 | 606885 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACADSB CL E G H | 36 | 610006 | Deficiency of 2-methylbutyryl-CoA dehydrogenase | 610006 | C1864912 | OMIM | 1 | | 301 | 91 | 600301 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACADVL CL E G H | 37 | 201475 | Very long chain acyl-CoA dehydrogenase deficiency | 201475 | C3887523 | OMIM | 1 | | 1297 | 92 | 609575 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACOX1 CL E G H | 51 | 2971 | | | | ORPHA | 1 | | 517 | 119 | 609751 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACP2 CL E G H | 53 | 200950 | Acid phosphatase deficiency | 200950 | C0268410 | OMIM | 1 | | 27 | 123 | 171650 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACSL4 CL E G H | 2182 | 86818 | | | | ORPHA | 1 | | 260 | 3571 | 300157 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACTA1 CL E G H | 58 | 2020 | | | | ORPHA | 1 | | 392 | 129 | 102610 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACTB CL E G H | 60 | 243310 | Baraitser-Winter syndrome 1 | 243310 | C1855722 | OMIM | 1 | | 406 | 132 | 102630 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACY1 CL E G H | 95 | 137754 | | | | ORPHA | 1 | | 94 | 177 | 104620 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ACY1 CL E G H | 95 | 609924 | Aminoacylase 1 deficiency | 609924 | C1835922 | OMIM | 1 | | 94 | 177 | 104620 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ADAMTS2 CL E G H | 9509 | 1901 | | | | ORPHA | 1 | | 1221 | 218 | 604539 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ADCY6 CL E G H | 112 | 2680 | | | | ORPHA | 1 | | 72 | 237 | 600294 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AGA CL E G H | 175 | 208400 | Aspartylglucosaminuria | 208400 | C0268225 | OMIM | 1 | | 413 | 318 | 613228 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AGK CL E G H | 55750 | 212350 | Cataract and cardiomyopathy | 212350 | C1859317 | OMIM | 1 | | 242 | 21869 | 610345 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AHI1 CL E G H | 54806 | 220493 | | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AHI1 CL E G H | 54806 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 922 | 21575 | 608894 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AHI1 CL E G H | 54806 | 608629 | Joubert syndrome 3 | 608629 | C1837713 | OMIM | 1 | | 922 | 21575 | 608894 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AHSG CL E G H | 197 | 2850 | | | | ORPHA | 1 | | 61 | 349 | 138680 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AIPL1 CL E G H | 23746 | 65 | | | | ORPHA | 1 | | 397 | 359 | 604392 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALDH18A1 CL E G H | 5832 | 219150 | Cutis laxa-corneal clouding-oligophrenia syndrome | 219150 | C0268354 | OMIM | 1 | | 437 | 9722 | 138250 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALDH5A1 CL E G H | 7915 | 22 | AFib amyloidosis | | CN244920 | ORPHA | 1 | | 597 | 408 | 610045 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALDH5A1 CL E G H | 7915 | 271980 | Succinate-semialdehyde dehydrogenase deficiency | 271980 | C0268631 | OMIM | 1 | | 597 | 408 | 610045 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALDH7A1 CL E G H | 501 | 3006 | | | | ORPHA | 1 | | 761 | 877 | 107323 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALDH7A1 CL E G H | 501 | 266100 | Pyridoxine-dependent epilepsy | 266100 | C1849508 | OMIM | 1 | | 761 | 877 | 107323 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALG1 CL E G H | 56052 | 608540 | Congenital disorder of glycosylation type 1K | 608540 | C2931005 | OMIM | 1 | | 495 | 18294 | 605907 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALG12 CL E G H | 79087 | 79324 | | | | ORPHA | 1 | | 464 | 19358 | 607144 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALG3 CL E G H | 10195 | 79321 | | | | ORPHA | 1 | | 179 | 23056 | 608750 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALG6 CL E G H | 29929 | 79320 | | | | ORPHA | 1 | | 505 | 23157 | 604566 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALG9 CL E G H | 79796 | 79328 | | | | ORPHA | 1 | | 236 | 15672 | 606941 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ALPL CL E G H | 249 | 241500 | Infantile hypophosphatasia | 241500 | C0268412 | OMIM | 1 | | 787 | 438 | 171760 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AMMECR1 CL E G H | 9949 | 86818 | | | | ORPHA | 1 | | 197 | 467 | 300195 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AMT CL E G H | 275 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 457 | 473 | 238310 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ANTXR2 CL E G H | 118429 | 2176 | Epimetaphyseal skeletal dysplasia | | | ORPHA | 1 | | 264 | 21732 | 608041 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AP1S2 CL E G H | 8905 | 85335 | | | | ORPHA | 1 | | 218 | 560 | 300629 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | APC2 CL E G H | 10297 | 821 | | | | ORPHA | 1 | | 235 | 24036 | 612034 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | APOPT1 CL E G H | 84334 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 152 | 20492 | 616003 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | AR CL E G H | 367 | 481 | | | | ORPHA | 1 | | 556 | 644 | 313700 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARHGAP31 CL E G H | 57514 | 100300 | Adams-Oliver syndrome 1 | 100300 | CN028867 | OMIM | 1 | | 243 | 29216 | 610911 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARID1A CL E G H | 8289 | 1465 | | | | ORPHA | 1 | | 545 | 11110 | 603024 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARID1B CL E G H | 57492 | 1465 | | | | ORPHA | 1 | | 1206 | 18040 | 614556 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARID1B CL E G H | 57492 | 135900 | Coffin-Siris syndrome 1 | 135900 | C3281201 | OMIM | 1 | | 1206 | 18040 | 614556 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARID2 CL E G H | 196528 | 1465 | | | | ORPHA | 1 | | 227 | 18037 | 609539 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARL13B CL E G H | 200894 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 264 | 25419 | 608922 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARL13B CL E G H | 200894 | 612291 | Joubert syndrome 8 | 612291 | C2676771 | OMIM | 1 | | 264 | 25419 | 608922 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARL3 CL E G H | 403 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 106 | 694 | 604695 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARMC9 CL E G H | 80210 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 468 | 20730 | 617612 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARSA CL E G H | 410 | 250100 | Metachromatic leukodystrophy | 250100 | C0023522 | OMIM | 1 | | 953 | 713 | 607574 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARVCF CL E G H | 421 | 567 | | | | ORPHA | 1 | | 541 | 728 | 602269 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARX CL E G H | 170302 | 452 | | | | ORPHA | 1 | | 679 | 18060 | 300382 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ARX CL E G H | 170302 | 300215 | Lissencephaly 2, X-linked | 300215 | C1846171 | OMIM | 1 | | 679 | 18060 | 300382 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ASCL1 CL E G H | 429 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 32 | 738 | 100790 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ASPA CL E G H | 443 | 314911 | | | | ORPHA | 1 | | 319 | 756 | 608034 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ASPA CL E G H | 443 | 271900 | Spongy degeneration of central nervous system | 271900 | C0206307 | OMIM | 1 | | 319 | 756 | 608034 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ASXL1 CL E G H | 171023 | 605039 | C-like syndrome | 605039 | C0796232 | OMIM | 1 | | 503 | 18318 | 612990 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATCAY CL E G H | 85300 | 601238 | Cerebellar ataxia, Cayman type | 601238 | C1832585 | OMIM | 1 | | 178 | 779 | 608179 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATIC CL E G H | 471 | 608688 | AICAR transformylase/IMP cyclohydrolase deficiency | 608688 | C1837530 | OMIM | 1 | | 165 | 794 | 601731 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATP6V0A2 CL E G H | 23545 | 219200 | Cutis laxa with osteodystrophy | 219200 | C0268355 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATP6V0A2 CL E G H | 23545 | 278250 | Wrinkly skin syndrome | 278250 | C0406587 | OMIM | 1 | | 484 | 18481 | 611716 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATP7A CL E G H | 538 | 198 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATP7A CL E G H | 538 | 565 | | | | ORPHA | 1 | | 1283 | 869 | 300011 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATP8A2 CL E G H | 51761 | 1766 | | | | ORPHA | 1 | | 271 | 13533 | 605870 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATPAF2 CL E G H | 91647 | 604273 | Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1 | 604273 | C2700431 | OMIM | 1 | | 228 | 18802 | 608918 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATRX CL E G H | 546 | 847 | | | | ORPHA | 1 | | 1544 | 886 | 300032 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATXN1 CL E G H | 6310 | 164400 | Spinocerebellar ataxia 1 | 164400 | C0752120 | OMIM | 1 | | 86 | 10548 | 601556 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ATXN2 CL E G H | 6311 | 183090 | Spinocerebellar ataxia 2 | 183090 | C0752121 | OMIM | 1 | | 53 | 10555 | 601517 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B3GALNT2 CL E G H | 148789 | 588 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B3GALNT2 CL E G H | 148789 | 899 | | | | ORPHA | 1 | | 462 | 28596 | 610194 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B3GALT6 CL E G H | 126792 | 75496 | | | | ORPHA | 1 | | 366 | 17978 | 615291 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B3GALT6 CL E G H | 126792 | 271640 | Spondyloepimetaphyseal dysplasia with joint laxity | 271640 | C0432243 | OMIM | 1 | | 366 | 17978 | 615291 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B3GAT3 CL E G H | 26229 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 154 | 923 | 606374 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B4GALT1 CL E G H | 2683 | 79332 | | | | ORPHA | 1 | | 158 | 924 | 137060 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B4GALT1 CL E G H | 2683 | 607091 | Congenital disorder of glycosylation type 2D | 607091 | C1846816 | OMIM | 1 | | 158 | 924 | 137060 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B4GALT7 CL E G H | 11285 | 75496 | | | | ORPHA | 1 | | 286 | 930 | 604327 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B4GALT7 CL E G H | 11285 | 130070 | Ehlers-Danlos syndrome progeroid type | 130070 | C1869122 | OMIM | 1 | | 286 | 930 | 604327 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B4GAT1 CL E G H | 11041 | 899 | | | | ORPHA | 1 | | 166 | 15685 | 605517 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | B9D1 CL E G H | 27077 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 253 | 24123 | 614144 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BAZ1B CL E G H | 9031 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 196 | 961 | 605681 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BCKDHA CL E G H | 593 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 495 | 986 | 608348 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BCKDHB CL E G H | 594 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 547 | 987 | 248611 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BCS1L CL E G H | 617 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 334 | 1020 | 603647 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BCS1L CL E G H | 617 | 124000 | Mitochondrial complex III deficiency | 124000 | C1852372 | OMIM | 1 | | 334 | 1020 | 603647 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BRAF CL E G H | 673 | 648 | | | | ORPHA | 1 | | 948 | 1097 | 164757 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BRAF CL E G H | 673 | 115150 | Cardiofaciocutaneous syndrome 1 | 115150 | CN029449 | OMIM | 1 | | 948 | 1097 | 164757 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BRAF CL E G H | 673 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 948 | 1097 | 164757 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BRWD3 CL E G H | 254065 | 300659 | Mental retardation, X-linked 93 | 300659 | C1970841 | OMIM | 1 | | 519 | 17342 | 300553 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BSND CL E G H | 7809 | 602522 | Bartter syndrome type 4 | 602522 | C1865270 | OMIM | 1 | | 249 | 16512 | 606412 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BTD CL E G H | 686 | 79241 | | | | ORPHA | 1 | | 456 | 1122 | 609019 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | BTD CL E G H | 686 | 253260 | Biotinidase deficiency | 253260 | C0220754 | OMIM | 1 | | 456 | 1122 | 609019 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CA8 CL E G H | 767 | 1766 | | | | ORPHA | 1 | | 90 | 1382 | 114815 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CAMKMT CL E G H | 79823 | 163693 | | | | ORPHA | 1 | | 34 | 26276 | 609559 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CANT1 CL E G H | 124583 | 251450 | Desbuquois dysplasia 1 | 251450 | C4012146 | OMIM | 1 | | 239 | 19721 | 613165 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CASR CL E G H | 846 | 417 | Aloi Tomasini Isaia syndrome | | | ORPHA | 1 | | 2039 | 1514 | 601199 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CASR CL E G H | 846 | 239200 | Neonatal severe hyperparathyroidism | 239200 | C1832615 | OMIM | 1 | | 2039 | 1514 | 601199 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CC2D2A CL E G H | 57545 | 2318 | | | | ORPHA | 1 | | 1176 | 29253 | 612013 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1176 | 29253 | 612013 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CC2D2A CL E G H | 57545 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1176 | 29253 | 612013 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CCDC22 CL E G H | 28952 | 7 | Typical Joubert syndrome MRI findings | | CN228298 | ORPHA | 1 | | 252 | 28909 | 300859 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CD96 CL E G H | 10225 | 211750 | C syndrome | 211750 | C0796095 | OMIM | 1 | | 72 | 16892 | 606037 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CD96 CL E G H | 10225 | 1308 | Chorioretinopathy dominant form microcephaly | | | ORPHA | 1 | | 72 | 16892 | 606037 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1527 | 11411 | 300203 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CDKN1C CL E G H | 1028 | 85173 | | | | ORPHA | 1 | | 912 | 1786 | 600856 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CEP104 CL E G H | 9731 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 411 | 24866 | 616690 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CEP120 CL E G H | 153241 | 220493 | | | | ORPHA | 1 | | 305 | 26690 | 613446 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CEP120 CL E G H | 153241 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 305 | 26690 | 613446 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CEP290 CL E G H | 80184 | 65 | | | | ORPHA | 1 | | 2251 | 29021 | 610142 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CEP290 CL E G H | 80184 | 2318 | | | | ORPHA | 1 | | 2251 | 29021 | 610142 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CEP290 CL E G H | 80184 | 610188 | Joubert syndrome 5 | 610188 | C1857780 | OMIM | 1 | | 2251 | 29021 | 610142 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CEP41 CL E G H | 95681 | 220493 | | | | ORPHA | 1 | | 375 | 12370 | 610523 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CEP41 CL E G H | 95681 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 375 | 12370 | 610523 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CFL2 CL E G H | 1073 | 610687 | Nemaline myopathy 7 | 610687 | C1853154 | OMIM | 1 | | 147 | 1875 | 601443 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CHD7 CL E G H | 55636 | 138 | | | | ORPHA | 1 | | 2318 | 20626 | 608892 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CHST3 CL E G H | 9469 | 245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects | 245600 | C3278404 | OMIM | 1 | | 352 | 1971 | 603799 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CKAP2L CL E G H | 150468 | 3255 | Limb scalp and skull defects | | | ORPHA | 1 | | 110 | 26877 | 616174 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CLCNKA CL E G H | 1187 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 184 | 2026 | 602024 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CLCNKB CL E G H | 1188 | 613090 | Bartter syndrome, type 4b | 613090 | C2751312 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CLIP2 CL E G H | 7461 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 181 | 2586 | 603432 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CNTNAP1 CL E G H | 8506 | 2680 | | | | ORPHA | 1 | | 267 | 8011 | 602346 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COA6 CL E G H | 388753 | 616501 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | 616501 | C4225304 | OMIM | 1 | | 87 | 18025 | 614772 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COA7 CL E G H | 65260 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 32 | 25716 | 615623 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COG1 CL E G H | 9382 | 611209 | COG1 congenital disorder of glycosylation | 611209 | C1970016 | OMIM | 1 | | 279 | 6545 | 606973 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COG5 CL E G H | 10466 | 613612 | Congenital disorder of glycosylation type 2i | 613612 | C3150876 | OMIM | 1 | | 599 | 14857 | 606821 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COG7 CL E G H | 91949 | 79333 | | | | ORPHA | 1 | | 296 | 18622 | 606978 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COG8 CL E G H | 84342 | 611182 | Congenital disorder of glycosylation type 2H | 611182 | C1970021 | OMIM | 1 | | 191 | 18623 | 606979 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COL1A1 CL E G H | 1277 | 1899 | | | | ORPHA | 1 | | 2016 | 2197 | 120150 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COL1A1 CL E G H | 1277 | 130060 | Ehlers-Danlos syndrome, procollagen proteinase deficient | 130060 | C0268345 | OMIM | 1 | | 2016 | 2197 | 120150 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COL1A2 CL E G H | 1278 | 1899 | | | | ORPHA | 1 | | 1458 | 2198 | 120160 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1820 | 2200 | 120140 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COL4A1 CL E G H | 1282 | 899 | | | | ORPHA | 1 | | 1258 | 2202 | 120130 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COLQ CL E G H | 8292 | 98915 | | | | ORPHA | 1 | | 465 | 2226 | 603033 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COLQ CL E G H | 8292 | 603034 | Endplate acetylcholinesterase deficiency | 603034 | C1864233 | OMIM | 1 | | 465 | 2226 | 603033 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COMT CL E G H | 1312 | 567 | | | | ORPHA | 1 | | 586 | 2228 | 116790 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COQ7 CL E G H | 10229 | 616733 | Coenzyme Q10 deficiency, primary, 8 | 616733 | C4225226 | OMIM | 1 | | 122 | 2244 | 601683 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COX10 CL E G H | 1352 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 293 | 2260 | 602125 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COX10 CL E G H | 1352 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 293 | 2260 | 602125 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COX14 CL E G H | 84987 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 28 | 28216 | 614478 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COX15 CL E G H | 1355 | 255241 | | | | ORPHA | 1 | | 251 | 2263 | 603646 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COX15 CL E G H | 1355 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 251 | 2263 | 603646 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COX20 CL E G H | 116228 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 162 | 26970 | 614698 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COX6B1 CL E G H | 1340 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 52 | 2280 | 124089 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | COX8A CL E G H | 1351 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 23 | 2294 | 123870 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CPLANE1 CL E G H | 65250 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 1426 | 25801 | 614571 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CPLANE1 CL E G H | 65250 | 277170 | Orofaciodigital syndrome 6 | 277170 | C2745997 | OMIM | 1 | | 1426 | 25801 | 614571 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CPS1 CL E G H | 1373 | 147 | | | | ORPHA | 1 | | 1152 | 2323 | 608307 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CPT1A CL E G H | 1374 | 156 | | | | ORPHA | 1 | | 620 | 2328 | 600528 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CPT1A CL E G H | 1374 | 255120 | Carnitine palmitoyltransferase I deficiency | 255120 | C0342789 | OMIM | 1 | | 620 | 2328 | 600528 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CPT2 CL E G H | 1376 | 228308 | | | | ORPHA | 1 | | 720 | 2330 | 600650 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CRB1 CL E G H | 23418 | 65 | | | | ORPHA | 1 | | 1274 | 2343 | 604210 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CRX CL E G H | 1406 | 65 | | | | ORPHA | 1 | | 442 | 2383 | 602225 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CSPP1 CL E G H | 79848 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 793 | 26193 | 611654 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CTNND2 CL E G H | 1501 | 281 | Ramer Ladda syndrome | | | ORPHA | 1 | | 313 | 2516 | 604275 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CYP27B1 CL E G H | 1594 | 264700 | Vitamin D-dependent rickets, type 1 | 264700 | C0268689 | OMIM | 1 | | 154 | 2606 | 609506 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | CYP2R1 CL E G H | 120227 | 600081 | Vitamin d hydroxylation-deficient rickets, type 1b | 600081 | C1838657 | OMIM | 1 | | 83 | 20580 | 608713 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | D2HGDH CL E G H | 728294 | 600721 | D-2-hydroxyglutaric aciduria 1 | 600721 | C3152055 | OMIM | 1 | | 394 | 28358 | 609186 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DAG1 CL E G H | 1605 | 899 | | | | ORPHA | 1 | | 496 | 2666 | 128239 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DBT CL E G H | 1629 | 248600 | Maple syrup urine disease | 248600 | C0024776 | OMIM | 1 | | 582 | 2698 | 248610 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DCX CL E G H | 1641 | 2148 | | | | ORPHA | 1 | | 388 | 2714 | 300121 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DEAF1 CL E G H | 10522 | 819 | | | | ORPHA | 1 | | 452 | 14677 | 602635 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DGUOK CL E G H | 1716 | 251880 | Mitochondrial DNA-depletion syndrome 3, hepatocerebral | 251880 | C3151513 | OMIM | 1 | | 167 | 2858 | 601465 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DHCR7 CL E G H | 1717 | 818 | | | | ORPHA | 1 | | 648 | 2860 | 602858 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DIS3L2 CL E G H | 129563 | 2849 | | | | ORPHA | 1 | | 1714 | 28648 | 614184 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DMD CL E G H | 1756 | 310200 | Duchenne muscular dystrophy | 310200 | C0013264 | OMIM | 1 | | 7370 | 2928 | 300377 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DMPK CL E G H | 1760 | 273 | | | | ORPHA | 1 | | 235 | 2933 | 605377 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DMPK CL E G H | 1760 | 160900 | Steinert myotonic dystrophy syndrome | 160900 | C3250443 | OMIM | 1 | | 235 | 2933 | 605377 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DPAGT1 CL E G H | 1798 | 86309 | | | | ORPHA | 1 | | 258 | 2995 | 191350 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DPAGT1 CL E G H | 1798 | 608093 | Congenital disorder of glycosylation type 1J | 608093 | C2931004 | OMIM | 1 | | 258 | 2995 | 191350 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DPF2 CL E G H | 5977 | 1465 | | | | ORPHA | 1 | | 73 | 9964 | 601671 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DPM1 CL E G H | 8813 | 79322 | | | | ORPHA | 1 | | 203 | 3005 | 603503 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DPM1 CL E G H | 8813 | 608799 | Congenital disorder of glycosylation type 1E | 608799 | C1837396 | OMIM | 1 | | 203 | 3005 | 603503 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DPYD CL E G H | 1806 | 274270 | Dihydropyrimidine dehydrogenase deficiency | 274270 | C2720286 | OMIM | 1 | | 379 | 3012 | 612779 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DUOX2 CL E G H | 50506 | 95716 | | | | ORPHA | 1 | | 832 | 13273 | 606759 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DUOXA2 CL E G H | 405753 | 95716 | | | | ORPHA | 1 | | 73 | 32698 | 612772 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | DYNC1H1 CL E G H | 1778 | 614563 | Mental retardation, autosomal dominant 13 | 614563 | C3281202 | OMIM | 1 | | 2974 | 2961 | 600112 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ECHS1 CL E G H | 1892 | 255241 | | | | ORPHA | 1 | | 365 | 3151 | 602292 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EDNRB CL E G H | 1910 | 277580 | Waardenburg syndrome type 4A | 277580 | C1848519 | OMIM | 1 | | 274 | 3180 | 131244 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EFNB1 CL E G H | 1947 | 1520 | | | | ORPHA | 1 | | 214 | 3226 | 300035 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EFNB1 CL E G H | 1947 | 304110 | Craniofrontonasal dysplasia | 304110 | C0220767 | OMIM | 1 | | 214 | 3226 | 300035 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EGR2 CL E G H | 1959 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 318 | 3239 | 129010 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EHMT1 CL E G H | 79813 | 96147 | | | | ORPHA | 1 | | 1570 | 24650 | 607001 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EIF2AK3 CL E G H | 9451 | 1667 | Dandy-Walker malformation with facial hemangioma | | | ORPHA | 1 | | 359 | 3255 | 604032 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EIF2B1 CL E G H | 1967 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 142 | 3257 | 606686 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EIF2B2 CL E G H | 8892 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 138 | 3258 | 606454 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EIF2B3 CL E G H | 8891 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 140 | 3259 | 606273 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EIF2B4 CL E G H | 8890 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 170 | 3260 | 606687 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EIF2B5 CL E G H | 8893 | 603896 | Leukoencephalopathy with vanishing white matter | 603896 | C1858991 | OMIM | 1 | | 422 | 3261 | 603945 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EIF2S3 CL E G H | 1968 | 85282 | | | | ORPHA | 1 | | 190 | 3267 | 300161 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ELN CL E G H | 2006 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 763 | 3327 | 130160 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ELP1 CL E G H | 8518 | 1764 | | | | ORPHA | 1 | | 1458 | 5959 | 603722 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ELP1 CL E G H | 8518 | 223900 | Familial dysautonomia | 223900 | C0013364 | OMIM | 1 | | 1458 | 5959 | 603722 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EPCAM CL E G H | 4072 | 144 | | | | ORPHA | 1 | | 613 | 11529 | 185535 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EPG5 CL E G H | 57724 | 1493 | Congenital mesoblastic nephroma | | | ORPHA | 1 | | 1213 | 29331 | 615068 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EPG5 CL E G H | 57724 | 242840 | Vici syndrome | 242840 | C1855772 | OMIM | 1 | | 1213 | 29331 | 615068 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ERCC1 CL E G H | 2067 | 1466 | | | | ORPHA | 1 | | 113 | 3433 | 126380 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ERCC2 CL E G H | 2068 | 1466 | | | | ORPHA | 1 | | 1196 | 3434 | 126340 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ERCC5 CL E G H | 2073 | 1466 | | | | ORPHA | 1 | | 425 | 3437 | 133530 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ERCC6 CL E G H | 2074 | 1466 | | | | ORPHA | 1 | | 1170 | 3438 | 609413 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ERCC6 CL E G H | 2074 | 214150 | Cerebro-oculo-facio-skeletal syndrome | 214150 | C0220722 | OMIM | 1 | | 1170 | 3438 | 609413 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ERF CL E G H | 2077 | 3267 | | | | ORPHA | 1 | | 131 | 3444 | 611888 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ETFA CL E G H | 2108 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 331 | 3481 | 608053 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ETFB CL E G H | 2109 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 192 | 3482 | 130410 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ETFDH CL E G H | 2110 | 231680 | Glutaric aciduria, type 2 | 231680 | C0268596 | OMIM | 1 | | 607 | 3483 | 231675 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ETHE1 CL E G H | 23474 | 602473 | Ethylmalonic encephalopathy | 602473 | C1865349 | OMIM | 1 | | 279 | 23287 | 608451 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | EZH2 CL E G H | 2146 | 277590 | Weaver syndrome | 277590 | C0265210 | OMIM | 1 | | 416 | 3527 | 601573 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FAN1 CL E G H | 22909 | 144 | | | | ORPHA | 1 | | 360 | 29170 | 613534 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FASTKD2 CL E G H | 22868 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 315 | 29160 | 612322 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FBN1 CL E G H | 2200 | 2462 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FBN1 CL E G H | 2200 | 284979 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FBP1 CL E G H | 2203 | 229700 | Fructose-biphosphatase deficiency | 229700 | C0016756 | OMIM | 1 | | 193 | 3606 | 611570 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FDX2 CL E G H | 112812 | 251900 | Mitochondrial myopathy | 251900 | C0162670 | OMIM | 1 | | 73 | 30546 | 614585 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FGFR3 CL E G H | 2261 | 1860 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FGFR3 CL E G H | 2261 | 93274 | | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FGFR3 CL E G H | 2261 | 15 | Antisocial personality disorder | | | ORPHA | 1 | | 746 | 3690 | 134934 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FGFR3 CL E G H | 2261 | 187600 | Thanatophoric dysplasia type 1 | 187600 | C1868678 | OMIM | 1 | | 746 | 3690 | 134934 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FH CL E G H | 2271 | 606812 | Fumarase deficiency | 606812 | C0342770 | OMIM | 1 | | 1594 | 3700 | 136850 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FKBP14 CL E G H | 55033 | 614557 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss | 614557 | C3281160 | OMIM | 1 | | 187 | 18625 | 614505 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FKRP CL E G H | 79147 | 588 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FKRP CL E G H | 79147 | 899 | | | | ORPHA | 1 | | 787 | 17997 | 606596 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FKRP CL E G H | 79147 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 787 | 17997 | 606596 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FKTN CL E G H | 2218 | 588 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FKTN CL E G H | 2218 | 899 | | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FKTN CL E G H | 2218 | 253800 | Fukuyama congenital muscular dystrophy | 253800 | C0410174 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FKTN CL E G H | 2218 | 611588 | Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 | 611588 | C1969040 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FKTN CL E G H | 2218 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 783 | 3622 | 607440 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FKTN CL E G H | 2218 | 272 | VACTERL hydrocephaly | | | ORPHA | 1 | | 783 | 3622 | 607440 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FLII CL E G H | 2314 | 819 | | | | ORPHA | 1 | | 154 | 3750 | 600362 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FMR1 CL E G H | 2332 | 908 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FMR1 CL E G H | 2332 | 261483 | | | | ORPHA | 1 | | 338 | 3775 | 309550 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FOXE1 CL E G H | 2304 | 95713 | | | | ORPHA | 1 | | 71 | 3806 | 602617 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FOXG1 CL E G H | 2290 | 261144 | | | | ORPHA | 1 | | 614 | 3811 | 164874 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FOXRED1 CL E G H | 55572 | 255241 | | | | ORPHA | 1 | | 255 | 26927 | 613622 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | FUCA1 CL E G H | 2517 | 349 | Neuroaxonal dystrophy renal tubular acidosis | | | ORPHA | 1 | | 222 | 4006 | 612280 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GAA CL E G H | 2548 | 232300 | Glycogen storage disease, type II | 232300 | C0017921 | OMIM | 1 | | 2068 | 4065 | 606800 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GABRA1 CL E G H | 2554 | 33069 | | | | ORPHA | 1 | | 519 | 4075 | 137160 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GABRD CL E G H | 2563 | 1606 | | | | ORPHA | 1 | | 397 | 4084 | 137163 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GABRG2 CL E G H | 2566 | 33069 | | | | ORPHA | 1 | | 528 | 4087 | 137164 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GALC CL E G H | 2581 | 245200 | Galactosylceramide beta-galactosidase deficiency | 245200 | C0023521 | OMIM | 1 | | 962 | 4115 | 606890 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GALE CL E G H | 2582 | 230350 | UDPglucose-4-epimerase deficiency | 230350 | C0751161 | OMIM | 1 | | 153 | 4116 | 606953 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GATA1 CL E G H | 2623 | 190685 | Complete trisomy 21 syndrome | 190685 | C0013080 | OMIM | 1 | | 329 | 4170 | 305371 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GBA CL E G H | 2629 | 85212 | | | | ORPHA | 1 | | | 4177 | 606463 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GBE1 CL E G H | 2632 | 232500 | Glycogen storage disease, type IV | 232500 | C0017923 | OMIM | 1 | | 600 | 4180 | 607839 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GCDH CL E G H | 2639 | 25 | | | | ORPHA | 1 | | 600 | 4189 | 608801 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GCDH CL E G H | 2639 | 231670 | Glutaric aciduria, type 1 | 231670 | C0268595 | OMIM | 1 | | 600 | 4189 | 608801 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GCSH CL E G H | 2653 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 162 | 4208 | 238330 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GDF6 CL E G H | 392255 | 65 | | | | ORPHA | 1 | | 312 | 4221 | 601147 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GLDC CL E G H | 2731 | 605899 | Non-ketotic hyperglycinemia | 605899 | C0751748 | OMIM | 1 | | 1816 | 4313 | 238300 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GM2A CL E G H | 2760 | 272750 | Tay-Sachs disease, variant AB | 272750 | C0268275 | OMIM | 1 | | 166 | 4367 | 613109 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GMPPB CL E G H | 29925 | 588 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GMPPB CL E G H | 29925 | 363623 | | | | ORPHA | 1 | | 273 | 22932 | 615320 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GNPAT CL E G H | 8443 | 222765 | Rhizomelic chondrodysplasia punctata type 2 | 222765 | C1857242 | OMIM | 1 | | 261 | 4416 | 602744 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GORAB CL E G H | 92344 | 2078 | | | | ORPHA | 1 | | 198 | 25676 | 607983 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GP1BB CL E G H | 2812 | 567 | | | | ORPHA | 1 | | 449 | 4440 | 138720 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GPC3 CL E G H | 2719 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 855 | 4451 | 300037 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GPC4 CL E G H | 2239 | 312870 | Simpson-Golabi-Behmel syndrome | 312870 | C0796154 | OMIM | 1 | | 214 | 4452 | 300168 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GTF2I CL E G H | 2969 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 163 | 4659 | 601679 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GTF2IRD1 CL E G H | 9569 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 218 | 4661 | 604318 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GUCY2D CL E G H | 3000 | 65 | | | | ORPHA | 1 | | 838 | 4689 | 600179 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | GUSB CL E G H | 2990 | 584 | Al Gazali Donnai Mueller syndrome | | | ORPHA | 1 | | 277 | 4696 | 611499 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HACD1 CL E G H | 9200 | 2020 | | | | ORPHA | 1 | | 109 | 9639 | 610467 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HACE1 CL E G H | 57531 | 616756 | Spastic paraplegia and psychomotor retardation with or without seizures | 616756 | C4225215 | OMIM | 1 | | 107 | 21033 | 610876 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HADHA CL E G H | 3030 | 746 | Apert like polydactyly syndrome | | | ORPHA | 1 | | 630 | 4801 | 600890 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HADHA CL E G H | 3030 | 609016 | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | 609016 | CN074230 | OMIM | 1 | | 630 | 4801 | 600890 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HADHA CL E G H | 3030 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 630 | 4801 | 600890 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HADHB CL E G H | 3032 | 746 | Apert like polydactyly syndrome | | | ORPHA | 1 | | 263 | 4803 | 143450 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HADHB CL E G H | 3032 | 609015 | Mitochondrial trifunctional protein deficiency | 609015 | C0342786 | OMIM | 1 | | 263 | 4803 | 143450 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HBA1 CL E G H | 3039 | 98791 | | | | ORPHA | 1 | | 379 | 4823 | 141800 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HBA2 CL E G H | 3040 | 98791 | | | | ORPHA | 1 | | 333 | 4824 | 141850 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HDAC4 CL E G H | 9759 | 1001 | Branchial arch defects | | | ORPHA | 1 | | 427 | 14063 | 605314 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HESX1 CL E G H | 8820 | 226307 | | | | ORPHA | 1 | | 76 | 4877 | 601802 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HIBCH CL E G H | 26275 | 88639 | | | | ORPHA | 1 | | 171 | 4908 | 610690 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HIRA CL E G H | 7290 | 567 | | | | ORPHA | 1 | | 435 | 4916 | 600237 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HLCS CL E G H | 3141 | 79242 | | | | ORPHA | 1 | | 722 | 4976 | 609018 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HLCS CL E G H | 3141 | 253270 | Holocarboxylase synthetase deficiency | 253270 | C0268581 | OMIM | 1 | | 722 | 4976 | 609018 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HNRNPU CL E G H | 3192 | 238769 | | | | ORPHA | 1 | | 692 | 5048 | 602869 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HPD CL E G H | 3242 | 2118 | | | | ORPHA | 1 | | 158 | 5147 | 609695 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HPRT1 CL E G H | 3251 | 300322 | Lesch-Nyhan syndrome | 300322 | C0023374 | OMIM | 1 | | 327 | 5157 | 308000 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HRAS CL E G H | 3265 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 547 | 5173 | 190020 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HSD17B10 CL E G H | 3028 | 300438 | 2-methyl-3-hydroxybutyric aciduria | 300438 | C3266731 | OMIM | 1 | | 222 | 4800 | 300256 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HSPD1 CL E G H | 3329 | 612233 | Leukodystrophy, hypomyelinating, 4 | 612233 | C2677109 | OMIM | 1 | | 207 | 5261 | 118190 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | HYLS1 CL E G H | 219844 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 229 | 26558 | 610693 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | IDH2 CL E G H | 3418 | 613657 | D-2-hydroxyglutaric aciduria 2 | 613657 | C3150909 | OMIM | 1 | | 184 | 5383 | 147650 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | IDUA CL E G H | 3425 | 93473 | | | | ORPHA | 1 | | 1313 | 5391 | 252800 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | IFIH1 CL E G H | 64135 | 182250 | Singleton-Merten syndrome 1 | 182250 | C4225427 | OMIM | 1 | | 892 | 18873 | 606951 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | IFT140 CL E G H | 9742 | 65 | | | | ORPHA | 1 | | 1284 | 29077 | 614620 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | IMPDH1 CL E G H | 3614 | 65 | | | | ORPHA | 1 | | 427 | 6052 | 146690 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | INPP5E CL E G H | 56623 | 220493 | | | | ORPHA | 1 | | 620 | 21474 | 613037 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | INPP5E CL E G H | 56623 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 620 | 21474 | 613037 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | INPP5E CL E G H | 56623 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 620 | 21474 | 613037 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 620 | 21474 | 613037 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | INPP5K CL E G H | 51763 | 559 | | | | ORPHA | 1 | | 157 | 33882 | 607875 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | INPPL1 CL E G H | 3636 | 2746 | Hoyeraal syndrome | | | ORPHA | 1 | | 295 | 6080 | 600829 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | INPPL1 CL E G H | 3636 | 258480 | Opsismodysplasia | 258480 | C0432219 | OMIM | 1 | | 295 | 6080 | 600829 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | IQCB1 CL E G H | 9657 | 65 | | | | ORPHA | 1 | | 387 | 28949 | 609237 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | IQSEC2 CL E G H | 23096 | 819 | | | | ORPHA | 1 | | 955 | 29059 | 300522 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ISPD CL E G H | 729920 | 899 | | | | ORPHA | 1 | | 647 | 37276 | 614631 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ITGA3 CL E G H | 3675 | 614748 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital | 614748 | C3553636 | OMIM | 1 | | 186 | 6139 | 605025 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ITGA7 CL E G H | 3679 | 2020 | | | | ORPHA | 1 | | 718 | 6143 | 600536 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ITGB6 CL E G H | 3694 | 2850 | | | | ORPHA | 1 | | 95 | 6161 | 147558 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ITPR1 CL E G H | 3708 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 1134 | 6180 | 147265 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | IYD CL E G H | 389434 | 95716 | | | | ORPHA | 1 | | 65 | 21071 | 612025 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | JMJD1C CL E G H | 221037 | 567 | | | | ORPHA | 1 | | 971 | 12313 | 604503 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KANK1 CL E G H | 23189 | 612900 | Cerebral palsy, spastic quadriplegic, 2 | 612900 | C2752061 | OMIM | 1 | | 725 | 19309 | 607704 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KAT6B CL E G H | 23522 | 648 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KAT6B CL E G H | 23522 | 3047 | | | | ORPHA | 1 | | 605 | 17582 | 605880 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KAT6B CL E G H | 23522 | 606170 | Genitopatellar syndrome | 606170 | C1853566 | OMIM | 1 | | 605 | 17582 | 605880 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNAB2 CL E G H | 8514 | 1606 | | | | ORPHA | 1 | | 91 | 6229 | 601142 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNC3 CL E G H | 3748 | 605259 | Spinocerebellar ataxia 13 | 605259 | C1854488 | OMIM | 1 | | 216 | 6235 | 176264 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNE5 CL E G H | 23630 | 86818 | | | | ORPHA | 1 | | 208 | 6241 | 300328 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNH1 CL E G H | 3756 | 611816 | Temple-Baraitser syndrome | 611816 | C2678486 | OMIM | 1 | | 413 | 6250 | 603305 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNH1 CL E G H | 3756 | 135500 | Zimmermann-Laband syndrome 1 | 135500 | CN032818 | OMIM | 1 | | 413 | 6250 | 603305 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNJ10 CL E G H | 3766 | 612780 | SeSAME syndrome | 612780 | C2748572 | OMIM | 1 | | 335 | 6256 | 602208 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNJ13 CL E G H | 3769 | 65 | | | | ORPHA | 1 | | 193 | 6259 | 603208 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNK9 CL E G H | 51305 | 612292 | Birk Barel mental retardation dysmorphism syndrome | 612292 | C2676770 | OMIM | 1 | | 90 | 6283 | 605874 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNQ2 CL E G H | 3785 | 306 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1689 | 6296 | 602235 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KCNQ3 CL E G H | 3786 | 306 | | | | ORPHA | 1 | | 1082 | 6297 | 602232 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KDM6A CL E G H | 7403 | 2322 | | | | ORPHA | 1 | | 678 | 12637 | 300128 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KDM6A CL E G H | 7403 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KDM6A CL E G H | 7403 | 300867 | Kabuki syndrome 2 | 300867 | C3275495 | OMIM | 1 | | 678 | 12637 | 300128 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KIAA0556 CL E G H | 23247 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | | 29068 | 616650 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KIAA0586 CL E G H | 9786 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 828 | 19960 | 610178 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KIF11 CL E G H | 3832 | 2526 | | | | ORPHA | 1 | | 605 | 6388 | 148760 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KIF1A CL E G H | 547 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 2132 | 888 | 601255 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KIF1BP CL E G H | 26128 | 66629 | | | | ORPHA | 1 | | | 23419 | 609367 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KIF22 CL E G H | 3835 | 603546 | Spondyloepimetaphyseal dysplasia with multiple dislocations | 603546 | C1863732 | OMIM | 1 | | 411 | 6391 | 603213 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KMT2A CL E G H | 4297 | 319182 | | | | ORPHA | 1 | | 1317 | 7132 | 159555 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KMT2D CL E G H | 8085 | 2322 | | | | ORPHA | 1 | | 2939 | 7133 | 602113 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KMT2D CL E G H | 8085 | 147920 | Kabuki syndrome 1 | 147920 | CN030661 | OMIM | 1 | | 2939 | 7133 | 602113 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KRAS CL E G H | 3845 | 144 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KRAS CL E G H | 3845 | 648 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KRAS CL E G H | 3845 | 3339 | | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KRAS CL E G H | 3845 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | KRAS CL E G H | 3845 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 440 | 6407 | 190070 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | L2HGDH CL E G H | 79944 | 79314 | | | | ORPHA | 1 | | 179 | 20499 | 609584 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LAMA2 CL E G H | 3908 | 607855 | Merosin deficient congenital muscular dystrophy | 607855 | C1263858 | OMIM | 1 | | 3283 | 6482 | 156225 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LAMB2 CL E G H | 3913 | 98915 | | | | ORPHA | 1 | | 677 | 6487 | 150325 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LAMB2 CL E G H | 3913 | 609049 | Pierson syndrome | 609049 | C1836876 | OMIM | 1 | | 677 | 6487 | 150325 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LARGE1 CL E G H | 9215 | 588 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LARGE1 CL E G H | 9215 | 899 | | | | ORPHA | 1 | | 658 | 6511 | 603590 |
HP:0001252 | HP:0001252 | Hypotonia | 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:0001252 | HP:0001252 | Hypotonia | 0 | LARGE1 CL E G H | 9215 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 658 | 6511 | 603590 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LAS1L CL E G H | 81887 | 309585 | Wilson-Turner X-linked mental retardation syndrome | 309585 | C1839736 | OMIM | 1 | | 243 | 25726 | 300964 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LCA5 CL E G H | 167691 | 65 | | | | ORPHA | 1 | | 523 | 31923 | 611408 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LETM1 CL E G H | 3954 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 263 | 6556 | 604407 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LGI4 CL E G H | 163175 | 2680 | | | | ORPHA | 1 | | 79 | 18712 | 608303 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LHX3 CL E G H | 8022 | 226307 | | | | ORPHA | 1 | | 379 | 6595 | 600577 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LHX4 CL E G H | 89884 | 226307 | | | | ORPHA | 1 | | 144 | 21734 | 602146 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LIFR CL E G H | 3977 | 601559 | Stuve-Wiedemann syndrome | 601559 | C0796176 | OMIM | 1 | | 721 | 6597 | 151443 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LIMK1 CL E G H | 3984 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 201 | 6613 | 601329 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LIPT1 CL E G H | 51601 | 255241 | | | | ORPHA | 1 | | 98 | 29569 | 610284 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LMBRD1 CL E G H | 55788 | 79284 | | | | ORPHA | 1 | | 216 | 23038 | 612625 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LMBRD1 CL E G H | 55788 | 277380 | METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE | 277380 | C1848578 | OMIM | 1 | | 216 | 23038 | 612625 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LMNA CL E G H | 4000 | 157973 | | | | ORPHA | 1 | | 1622 | 6636 | 150330 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LONP1 CL E G H | 9361 | 1458 | | | | ORPHA | 1 | | 501 | 9479 | 605490 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LONP1 CL E G H | 9361 | 600373 | CODAS syndrome | 600373 | C1838180 | OMIM | 1 | | 501 | 9479 | 605490 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LRAT CL E G H | 9227 | 65 | | | | ORPHA | 1 | | 212 | 6685 | 604863 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1354 | 6697 | 603506 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LRPPRC CL E G H | 10128 | 220111 | Leigh syndrome, French Canadian type | 220111 | C1857355 | OMIM | 1 | | 1154 | 15714 | 607544 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LTC4S CL E G H | 4056 | 614037 | Leukotriene c4 synthase deficiency | 614037 | C3279662 | OMIM | 1 | | 47 | 6719 | 246530 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | LZTR1 CL E G H | 8216 | 648 | | | | ORPHA | 1 | | 2408 | 6742 | 600574 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MAN2B1 CL E G H | 4125 | 248500 | Deficiency of alpha-mannosidase | 248500 | C0024748 | OMIM | 1 | | 1015 | 6826 | 609458 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MAP2K1 CL E G H | 5604 | 615279 | Cardiofaciocutaneous syndrome 3 | 615279 | C3809006 | OMIM | 1 | | 398 | 6840 | 176872 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MAP2K1 CL E G H | 5604 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 398 | 6840 | 176872 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MAP2K2 CL E G H | 5605 | 615280 | Cardiofaciocutaneous syndrome 4 | 615280 | C3809007 | OMIM | 1 | | 599 | 6842 | 601263 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MAP2K2 CL E G H | 5605 | 1340 | Chromosome 4, monosomy 4q | | C0265404 | ORPHA | 1 | | 599 | 6842 | 601263 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MAP3K20 CL E G H | 51776 | 2020 | | | | ORPHA | 1 | | 243 | 17797 | 609479 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MBD5 CL E G H | 55777 | 228402 | | | | ORPHA | 1 | | 1149 | 20444 | 611472 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MCCC1 CL E G H | 56922 | 210200 | 3 Methylcrotonyl-CoA carboxylase 1 deficiency | 210200 | CN028786 | OMIM | 1 | | 580 | 6936 | 609010 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MCCC1 CL E G H | 56922 | 6 | Intellectual disability (mild) | | CN240508 | ORPHA | 1 | | 580 | 6936 | 609010 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MCCC2 CL E G H | 64087 | 210210 | 3-methylcrotonyl CoA carboxylase 2 deficiency | 210210 | C1859499 | OMIM | 1 | | 532 | 6937 | 609014 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MCCC2 CL E G H | 64087 | 6 | Intellectual disability (mild) | | CN240508 | ORPHA | 1 | | 532 | 6937 | 609014 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MCOLN1 CL E G H | 57192 | 578 | Akesson syndrome | | | ORPHA | 1 | | 538 | 13356 | 605248 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MCOLN1 CL E G H | 57192 | 252650 | Mucolipidosis type IV | 252650 | C0238286 | OMIM | 1 | | 538 | 13356 | 605248 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MED12 CL E G H | 9968 | 776 | | | | ORPHA | 1 | | 1236 | 11957 | 300188 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MEF2C CL E G H | 4208 | 228384 | | | | ORPHA | 1 | | 420 | 6996 | 600662 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MKS1 CL E G H | 54903 | 220493 | | | | ORPHA | 1 | | 662 | 7121 | 609883 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MKS1 CL E G H | 54903 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 662 | 7121 | 609883 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MLH1 CL E G H | 4292 | 144 | | | | ORPHA | 1 | | 4826 | 7127 | 120436 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MLH3 CL E G H | 27030 | 144 | | | | ORPHA | 1 | | 1824 | 7128 | 604395 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 1 | | 206 | 12744 | 605678 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MLYCD CL E G H | 23417 | 248360 | Deficiency of malonyl-CoA decarboxylase | 248360 | C0342793 | OMIM | 1 | | 373 | 7150 | 606761 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MMAA CL E G H | 166785 | 251100 | Methylmalonic aciduria cblA type | 251100 | C1855109 | OMIM | 1 | | 418 | 18871 | 607481 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MMAB CL E G H | 326625 | 251110 | Methylmalonic aciduria cblB type | 251110 | C1855102 | OMIM | 1 | | 408 | 19331 | 607568 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MMACHC CL E G H | 25974 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 432 | 24525 | 609831 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MMADHC CL E G H | 27249 | 277410 | Methylmalonic acidemia with homocystinuria cblD | 277410 | C1848552 | OMIM | 1 | | 232 | 25221 | 611935 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MMUT CL E G H | 4594 | 79312 | | | | ORPHA | 1 | | 771 | 7526 | 609058 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MMUT CL E G H | 4594 | 289916 | | | | ORPHA | 1 | | 771 | 7526 | 609058 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MMUT CL E G H | 4594 | 251000 | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | 251000 | C1855114 | OMIM | 1 | | 771 | 7526 | 609058 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MOGS CL E G H | 7841 | 606056 | Congenital disorder of glycosylation type 2B | 606056 | C1853736 | OMIM | 1 | | 346 | 24862 | 601336 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MPDU1 CL E G H | 9526 | 79323 | | | | ORPHA | 1 | | 105 | 7207 | 604041 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MPI CL E G H | 4351 | 602579 | Congenital disorder of glycosylation type 1B | 602579 | C1865145 | OMIM | 1 | | 326 | 7216 | 154550 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MPZ CL E G H | 4359 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 557 | 7225 | 159440 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MRPS22 CL E G H | 56945 | 611719 | Combined oxidative phosphorylation deficiency 5 | 611719 | C2673642 | OMIM | 1 | | 144 | 14508 | 605810 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MSH2 CL E G H | 4436 | 144 | | | | ORPHA | 1 | | 6374 | 7325 | 609309 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MSH6 CL E G H | 2956 | 144 | | | | ORPHA | 1 | | 7706 | 7329 | 600678 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MT-ATP8 CL E G H | 4509 | 480 | | | | ORPHA | 1 | | | 7415 | 516070 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MT-TL1 CL E G H | 4567 | 480 | | | | ORPHA | 1 | | | 7490 | 590050 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MT-TN CL E G H | 4570 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7493 | 590010 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MT-TS1 CL E G H | 4574 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | | 7497 | 590080 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MT-TW CL E G H | 4578 | 251900 | Mitochondrial myopathy | 251900 | C0162670 | OMIM | 1 | | | 7501 | 590095 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MTFMT CL E G H | 123263 | 255241 | | | | ORPHA | 1 | | 181 | 29666 | 611766 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MTM1 CL E G H | 4534 | 596 | Albright like syndrome | | | ORPHA | 1 | | 720 | 7448 | 300415 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MTRR CL E G H | 4552 | 2169 | Epilepsy with myoclono-astatic crisis | | | ORPHA | 1 | | 668 | 7473 | 602568 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MTRR CL E G H | 4552 | 236270 | Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type | 236270 | C1856057 | OMIM | 1 | | 668 | 7473 | 602568 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MTTP CL E G H | 4547 | 14 | Bilateral squint | | CN228276 | ORPHA | 1 | | 701 | 7467 | 157147 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MVK CL E G H | 4598 | 29 | | | | ORPHA | 1 | | 470 | 7530 | 251170 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MVK CL E G H | 4598 | 610377 | Mevalonic aciduria | 610377 | C1959626 | OMIM | 1 | | 470 | 7530 | 251170 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MYL2 CL E G H | 4633 | 2020 | | | | ORPHA | 1 | | 445 | 7583 | 160781 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MYMK CL E G H | 389827 | 1358 | | | | ORPHA | 1 | | 75 | 33778 | 615345 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MYO5A CL E G H | 4644 | 33445 | | | | ORPHA | 1 | | 249 | 7602 | 160777 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | MYO5A CL E G H | 4644 | 214450 | Griscelli syndrome type 1 | 214450 | C1859194 | OMIM | 1 | | 249 | 7602 | 160777 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NAGA CL E G H | 4668 | 79279 | | | | ORPHA | 1 | | 183 | 7631 | 104170 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NAGA CL E G H | 4668 | 609241 | Schindler disease, type 1 | 609241 | C1836544 | OMIM | 1 | | 183 | 7631 | 104170 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NANS CL E G H | 54187 | 610442 | Spondyloepimetaphyseal dysplasia Genevieve type | 610442 | C1864872 | OMIM | 1 | | 119 | 19237 | 605202 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NBAS CL E G H | 51594 | 614800 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly | 614800 | C3541319 | OMIM | 1 | | 1250 | 15625 | 608025 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFA10 CL E G H | 4705 | 255241 | | | | ORPHA | 1 | | 373 | 7684 | 603835 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFA12 CL E G H | 55967 | 255241 | | | | ORPHA | 1 | | 71 | 23987 | 614530 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFA13 CL E G H | 51079 | 255241 | | | | ORPHA | 1 | | 21 | 17194 | 609435 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFA2 CL E G H | 4695 | 255241 | | | | ORPHA | 1 | | 76 | 7685 | 602137 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFA4 CL E G H | 4697 | 255241 | | | | ORPHA | 1 | | 74 | 7687 | 603833 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFA9 CL E G H | 4704 | 255241 | | | | ORPHA | 1 | | 179 | 7693 | 603834 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFAF2 CL E G H | 91942 | 255241 | | | | ORPHA | 1 | | 115 | 28086 | 609653 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFAF5 CL E G H | 79133 | 255241 | | | | ORPHA | 1 | | 273 | 15899 | 612360 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFAF6 CL E G H | 137682 | 255241 | | | | ORPHA | 1 | | 198 | 28625 | 612392 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFS1 CL E G H | 4719 | 255241 | | | | ORPHA | 1 | | 332 | 7707 | 157655 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFS2 CL E G H | 4720 | 255241 | | | | ORPHA | 1 | | 178 | 7708 | 602985 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFS3 CL E G H | 4722 | 255241 | | | | ORPHA | 1 | | 100 | 7710 | 603846 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFS4 CL E G H | 4724 | 255241 | | | | ORPHA | 1 | | 104 | 7711 | 602694 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFS4 CL E G H | 4724 | 252010 | Mitochondrial complex I deficiency | 252010 | C1838979 | OMIM | 1 | | 104 | 7711 | 602694 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFS7 CL E G H | 374291 | 255241 | | | | ORPHA | 1 | | 164 | 7714 | 601825 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFS8 CL E G H | 4728 | 255241 | | | | ORPHA | 1 | | 98 | 7715 | 602141 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFV1 CL E G H | 4723 | 255241 | | | | ORPHA | 1 | | 225 | 7716 | 161015 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NDUFV2 CL E G H | 4729 | 255241 | | | | ORPHA | 1 | | 191 | 7717 | 600532 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NELFA CL E G H | 7469 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 174 | 12768 | 606026 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NEU1 CL E G H | 4758 | 812 | | | | ORPHA | 1 | | 147 | 7758 | 608272 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NEU1 CL E G H | 4758 | 256550 | Sialidosis, type II | 256550 | C0268226 | OMIM | 1 | | 147 | 7758 | 608272 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NFIX CL E G H | 4784 | 602535 | Marshall-Smith syndrome | 602535 | C0265211 | OMIM | 1 | | 261 | 7788 | 164005 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NKX2-1 CL E G H | 7080 | 95713 | | | | ORPHA | 1 | | 227 | 11825 | 600635 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NKX2-1 CL E G H | 7080 | 610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | 610978 | C1970269 | OMIM | 1 | | 227 | 11825 | 600635 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NKX2-5 CL E G H | 1482 | 95712 | | | | ORPHA | 1 | | 449 | 2488 | 600584 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NKX2-5 CL E G H | 1482 | 95713 | | | | ORPHA | 1 | | 449 | 2488 | 600584 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NMNAT1 CL E G H | 64802 | 65 | | | | ORPHA | 1 | | 197 | 17877 | 608700 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NPC1 CL E G H | 4864 | 257220 | Niemann-Pick disease type C1 | 257220 | C3179455 | OMIM | 1 | | 1693 | 7897 | 607623 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NPC2 CL E G H | 10577 | 607625 | Niemann-Pick disease type C2 | 607625 | C1843366 | OMIM | 1 | | 183 | 14537 | 601015 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NPHP1 CL E G H | 4867 | 220497 | | | | ORPHA | 1 | | 653 | 7905 | 607100 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NRAS CL E G H | 4893 | 648 | | | | ORPHA | 1 | | 250 | 7989 | 164790 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NRAS CL E G H | 4893 | 2612 | Heart defect, tongue hamartoma and polysyndactyly | | | ORPHA | 1 | | 250 | 7989 | 164790 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NSD1 CL E G H | 64324 | 821 | | | | ORPHA | 1 | | 1390 | 14234 | 606681 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | NSD2 CL E G H | 7468 | 280 | Halal Setton Wang syndrome | | | ORPHA | 1 | | 363 | 12766 | 602952 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | OFD1 CL E G H | 8481 | 300209 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 | C1846175 | OMIM | 1 | | 789 | 2567 | 300170 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | OGDH CL E G H | 4967 | 203740 | Alpha-ketoglutarate dehydrogenase deficiency | 203740 | C2752074 | OMIM | 1 | | 105 | 8124 | 613022 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | OPHN1 CL E G H | 4983 | 137831 | | | | ORPHA | 1 | | 381 | 8148 | 300127 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | OPHN1 CL E G H | 4983 | 300486 | Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | 300486 | C1845366 | OMIM | 1 | | 381 | 8148 | 300127 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ORAI1 CL E G H | 84876 | 612782 | Immune dysfunction with T-cell inactivation due to calcium entry defect 1 | 612782 | C2748568 | OMIM | 1 | | 255 | 25896 | 610277 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | P4HB CL E G H | 5034 | 2050 | Ectodermal dysplasia Margarita type | | | ORPHA | 1 | | 167 | 8548 | 176790 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PAFAH1B1 CL E G H | 5048 | 217385 | | | | ORPHA | 1 | | 439 | 8574 | 601545 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PAX6 CL E G H | 5080 | 1065 | Camptodactyly joint contractures and facial skeletal dysplasia | | | ORPHA | 1 | | 688 | 8620 | 607108 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PAX8 CL E G H | 7849 | 95712 | | | | ORPHA | 1 | | 198 | 8622 | 167415 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PAX8 CL E G H | 7849 | 95713 | | | | ORPHA | 1 | | 198 | 8622 | 167415 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PAX8 CL E G H | 7849 | 95720 | | | | ORPHA | 1 | | 198 | 8622 | 167415 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PAX8 CL E G H | 7849 | 218700 | Thyroid dysgenesis | 218700 | C1563716 | OMIM | 1 | | 198 | 8622 | 167415 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PC CL E G H | 5091 | 266150 | Pyruvate carboxylase deficiency | 266150 | C0034341 | OMIM | 1 | | 828 | 8636 | 608786 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PCBD1 CL E G H | 5092 | 264070 | Hyperphenylalaninemia, BH4-deficient, D | 264070 | C1849700 | OMIM | 1 | | 67 | 8646 | 126090 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PCDH19 CL E G H | 57526 | 33069 | | | | ORPHA | 1 | | 1120 | 14270 | 300460 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PCYT1A CL E G H | 5130 | 65 | | | | ORPHA | 1 | | 298 | 8754 | 123695 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PDHA1 CL E G H | 5160 | 255241 | | | | ORPHA | 1 | | 601 | 8806 | 300502 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PDHA1 CL E G H | 5160 | 312170 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 | C1839413 | OMIM | 1 | | 601 | 8806 | 300502 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PDP1 CL E G H | 54704 | 608782 | Pyruvate dehydrogenase phosphatase deficiency | 608782 | C1837429 | OMIM | 1 | | 128 | 9279 | 605993 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PET100 CL E G H | 100131801 | 255241 | | | | ORPHA | 1 | | 55 | 40038 | 614770 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PET100 CL E G H | 100131801 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 55 | 40038 | 614770 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX1 CL E G H | 5189 | 772 | | | | ORPHA | 1 | | 1205 | 8850 | 602136 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX1 CL E G H | 5189 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 1205 | 8850 | 602136 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX1 CL E G H | 5189 | 214100 | Zellweger syndrome | 214100 | C0043459 | OMIM | 1 | | 1205 | 8850 | 602136 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX10 CL E G H | 5192 | 772 | | | | ORPHA | 1 | | 654 | 8851 | 602859 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX10 CL E G H | 5192 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 654 | 8851 | 602859 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX11B CL E G H | 8799 | 772 | | | | ORPHA | 1 | | 350 | 8853 | 603867 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX11B CL E G H | 8799 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 350 | 8853 | 603867 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX12 CL E G H | 5193 | 772 | | | | ORPHA | 1 | | 360 | 8854 | 601758 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX12 CL E G H | 5193 | 266510 | Infantile Refsum's disease | 266510 | C0282527 | OMIM | 1 | | 360 | 8854 | 601758 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX12 CL E G H | 5193 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 360 | 8854 | 601758 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX13 CL E G H | 5194 | 772 | | | | ORPHA | 1 | | 397 | 8855 | 601789 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX13 CL E G H | 5194 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 397 | 8855 | 601789 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX14 CL E G H | 5195 | 772 | | | | ORPHA | 1 | | 374 | 8856 | 601791 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX14 CL E G H | 5195 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 374 | 8856 | 601791 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX16 CL E G H | 9409 | 772 | | | | ORPHA | 1 | | 346 | 8857 | 603360 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX16 CL E G H | 9409 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 346 | 8857 | 603360 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX19 CL E G H | 5824 | 772 | | | | ORPHA | 1 | | 304 | 9713 | 600279 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX19 CL E G H | 5824 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 304 | 9713 | 600279 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX2 CL E G H | 5828 | 772 | | | | ORPHA | 1 | | 366 | 9717 | 170993 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX2 CL E G H | 5828 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 366 | 9717 | 170993 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX26 CL E G H | 55670 | 772 | | | | ORPHA | 1 | | 431 | 22965 | 608666 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX26 CL E G H | 55670 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 431 | 22965 | 608666 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX3 CL E G H | 8504 | 772 | | | | ORPHA | 1 | | 271 | 8858 | 603164 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX3 CL E G H | 8504 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 271 | 8858 | 603164 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX5 CL E G H | 5830 | 772 | | | | ORPHA | 1 | | 689 | 9719 | 600414 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX5 CL E G H | 5830 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 689 | 9719 | 600414 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX5 CL E G H | 5830 | 214110 | Peroxisome biogenesis disorder 2a (zellweger) | 214110 | C1859228 | OMIM | 1 | | 689 | 9719 | 600414 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX6 CL E G H | 5190 | 772 | | | | ORPHA | 1 | | 1085 | 8859 | 601498 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX6 CL E G H | 5190 | 44 | MYBPC1-related condition | | | ORPHA | 1 | | 1085 | 8859 | 601498 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PEX7 CL E G H | 5191 | 773 | | | | ORPHA | 1 | | 441 | 8860 | 601757 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PHF6 CL E G H | 84295 | 127 | | | | ORPHA | 1 | | 285 | 18145 | 300414 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PHF6 CL E G H | 84295 | 301900 | Borjeson-Forssman-Lehmann syndrome | 301900 | C0265339 | OMIM | 1 | | 285 | 18145 | 300414 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PHKG2 CL E G H | 5261 | 613027 | Glycogen storage disease IXc | 613027 | C2751643 | OMIM | 1 | | 171 | 8931 | 172471 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PHOX2B CL E G H | 8929 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 840 | 9143 | 603851 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PHYH CL E G H | 5264 | 773 | | | | ORPHA | 1 | | 303 | 8940 | 602026 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PIBF1 CL E G H | 10464 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 126 | 23352 | 607532 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PIEZO2 CL E G H | 63895 | 2461 | | | | ORPHA | 1 | | 755 | 26270 | 613629 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PIEZO2 CL E G H | 63895 | 248700 | Marden-Walker syndrome | 248700 | C0796033 | OMIM | 1 | | 755 | 26270 | 613629 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PIGL CL E G H | 9487 | 280000 | Zunich neuroectodermal syndrome | 280000 | C1848392 | OMIM | 1 | | 127 | 8966 | 605947 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PIK3CA CL E G H | 5290 | 144 | | | | ORPHA | 1 | | 975 | 8975 | 171834 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PIK3CA CL E G H | 5290 | 60040 | | | | ORPHA | 1 | | 975 | 8975 | 171834 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PIK3CA CL E G H | 5290 | 602501 | Megalencephaly cutis marmorata telangiectatica congenita | 602501 | C1865285 | OMIM | 1 | | 975 | 8975 | 171834 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PLA2G6 CL E G H | 8398 | 35069 | | | | ORPHA | 1 | | 598 | 9039 | 603604 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PLA2G6 CL E G H | 8398 | 256600 | Infantile neuroaxonal dystrophy | 256600 | C0270724 | OMIM | 1 | | 598 | 9039 | 603604 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PLOD1 CL E G H | 5351 | 225400 | Ehlers-Danlos syndrome, hydroxylysine-deficient | 225400 | C0268342 | OMIM | 1 | | 794 | 9081 | 153454 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PLP1 CL E G H | 5354 | 312080 | Pelizaeus-Merzbacher disease | 312080 | C0205711 | OMIM | 1 | | 391 | 9086 | 300401 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PLPBP CL E G H | 11212 | 3006 | | | | ORPHA | 1 | | 90 | 9457 | 604436 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 1 | | 118 | 9107 | 604282 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 609 | 9115 | 601785 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PMP22 CL E G H | 5376 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 453 | 9118 | 601097 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PMPCA CL E G H | 23203 | 1170 | | | | ORPHA | 1 | | 140 | 18667 | 613036 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PMS1 CL E G H | 5378 | 144 | | | | ORPHA | 1 | | 96 | 9121 | 600258 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PMS2 CL E G H | 5395 | 144 | | | | ORPHA | 1 | | 4346 | 9122 | 600259 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PNP CL E G H | 4860 | 613179 | Purine-nucleoside phosphorylase deficiency | 613179 | C0268125 | OMIM | 1 | | 217 | 7892 | 164050 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PNPLA6 CL E G H | 10908 | 1173 | CDG syndrome type 3 | | | ORPHA | 1 | | 943 | 16268 | 603197 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POLG CL E G H | 5428 | 726 | | | | ORPHA | 1 | | 1917 | 9179 | 174763 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POLG CL E G H | 5428 | 203700 | Progressive sclerosing poliodystrophy | 203700 | C0205710 | OMIM | 1 | | 1917 | 9179 | 174763 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POMGNT1 CL E G H | 55624 | 588 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POMGNT1 CL E G H | 55624 | 899 | | | | ORPHA | 1 | | 943 | 19139 | 606822 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POMGNT2 CL E G H | 84892 | 899 | | | | ORPHA | 1 | | 346 | 25902 | 614828 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POMK CL E G H | 84197 | 899 | | | | ORPHA | 1 | | 244 | 26267 | 615247 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POMT1 CL E G H | 10585 | 588 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POMT1 CL E G H | 10585 | 899 | | | | ORPHA | 1 | | 737 | 9202 | 607423 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POMT1 CL E G H | 10585 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 737 | 9202 | 607423 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POMT2 CL E G H | 29954 | 588 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POMT2 CL E G H | 29954 | 899 | | | | ORPHA | 1 | | 766 | 19743 | 607439 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POMT2 CL E G H | 29954 | 236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 | 236670 | CN033898 | OMIM | 1 | | 766 | 19743 | 607439 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POU1F1 CL E G H | 5449 | 226307 | | | | ORPHA | 1 | | 92 | 9210 | 173110 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | POU1F1 CL E G H | 5449 | 613038 | Pituitary hormone deficiency, combined 1 | 613038 | C2751608 | OMIM | 1 | | 92 | 9210 | 173110 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PPM1B CL E G H | 5495 | 163693 | | | | ORPHA | 1 | | 32 | 9276 | 603770 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PPP2R1A CL E G H | 5518 | 616362 | Mental retardation, autosomal dominant 36 | 616362 | C4225352 | OMIM | 1 | | 227 | 9302 | 605983 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PPT1 CL E G H | 5538 | 256730 | Ceroid lipofuscinosis neuronal 1 | 256730 | C1850451 | OMIM | 1 | | 516 | 9325 | 600722 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PRDM16 CL E G H | 63976 | 1606 | | | | ORPHA | 1 | | 1081 | 14000 | 605557 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PRDX1 CL E G H | 5052 | 277400 | Methylmalonic acidemia with homocystinuria | 277400 | C1848561 | OMIM | 1 | | 40 | 9352 | 176763 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PREPL CL E G H | 9581 | 163690 | | | | ORPHA | 1 | | 549 | 30228 | 609557 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PREPL CL E G H | 9581 | 163693 | | | | ORPHA | 1 | | 549 | 30228 | 609557 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PRODH CL E G H | 5625 | 239500 | Proline dehydrogenase deficiency | 239500 | C0268529 | OMIM | 1 | | 639 | 9453 | 606810 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PROP1 CL E G H | 5626 | 226307 | | | | ORPHA | 1 | | 223 | 9455 | 601538 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PRPS1 CL E G H | 5631 | 1187 | Cerebellar agenesis | | | ORPHA | 1 | | 360 | 9462 | 311850 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PRPS1 CL E G H | 5631 | 300661 | Phosphoribosylpyrophosphate synthetase superactivity | 300661 | C1970827 | OMIM | 1 | | 360 | 9462 | 311850 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PRRT2 CL E G H | 112476 | 306 | | | | ORPHA | 1 | | 702 | 30500 | 614386 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PRX CL E G H | 57716 | 145900 | Dejerine-Sottas disease | 145900 | C0011195 | OMIM | 1 | | 1079 | 13797 | 605725 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PSAP CL E G H | 5660 | 139406 | | | | ORPHA | 1 | | 598 | 9498 | 176801 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PSAP CL E G H | 5660 | 249900 | Sphingolipid activator protein 1 deficiency | 249900 | C0268262 | OMIM | 1 | | 598 | 9498 | 176801 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PTCH1 CL E G H | 5727 | 77301 | | | | ORPHA | 1 | | 3848 | 9585 | 601309 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PTDSS1 CL E G H | 9791 | 151050 | Lenz-Majewski hyperostosis syndrome | 151050 | C0432269 | OMIM | 1 | | 131 | 9587 | 612792 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PTPN11 CL E G H | 5781 | 648 | | | | ORPHA | 1 | | 716 | 9644 | 176876 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PTS CL E G H | 5805 | 13 | Brain malformation | | C0266449 | ORPHA | 1 | | 214 | 9689 | 612719 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PUS1 CL E G H | 80324 | 2598 | Mitochondrial myopathy and sideroblastic anemia | | CN220387 | ORPHA | 1 | | 337 | 15508 | 608109 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | PYCR1 CL E G H | 5831 | 2078 | | | | ORPHA | 1 | | 208 | 9721 | 179035 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | QDPR CL E G H | 5860 | 261630 | Dihydropteridine reductase deficiency | 261630 | C0268465 | OMIM | 1 | | 259 | 9752 | 612676 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RAB18 CL E G H | 22931 | 2510 | | | | ORPHA | 1 | | 180 | 14244 | 602207 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RAB3GAP1 CL E G H | 22930 | 2510 | | | | ORPHA | 1 | | 317 | 17063 | 602536 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RAB3GAP1 CL E G H | 22930 | 600118 | Warburg micro syndrome 1 | 600118 | C1838625 | OMIM | 1 | | 317 | 17063 | 602536 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RAB3GAP2 CL E G H | 25782 | 2510 | | | | ORPHA | 1 | | 474 | 17168 | 609275 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RAF1 CL E G H | 5894 | 648 | | | | ORPHA | 1 | | 827 | 9829 | 164760 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RAI1 CL E G H | 10743 | 819 | | | | ORPHA | 1 | | 1149 | 9834 | 607642 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RAI1 CL E G H | 10743 | 1713 | | | | ORPHA | 1 | | 1149 | 9834 | 607642 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RAP1A CL E G H | 5906 | 2322 | | | | ORPHA | 1 | | 38 | 9855 | 179520 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RAP1B CL E G H | 5908 | 2322 | | | | ORPHA | 1 | | 30 | 9857 | 179530 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RASA2 CL E G H | 5922 | 648 | | | | ORPHA | 1 | | 371 | 9872 | 601589 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RB1 CL E G H | 5925 | 1587 | Craniosynostosis arthrogryposis cleft palate | | | ORPHA | 1 | | 2487 | 9884 | 614041 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RD3 CL E G H | 343035 | 65 | | | | ORPHA | 1 | | 224 | 19689 | 180040 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RDH12 CL E G H | 145226 | 65 | | | | ORPHA | 1 | | 382 | 19977 | 608830 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RERE CL E G H | 473 | 1606 | | | | ORPHA | 1 | | 343 | 9965 | 605226 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RET CL E G H | 5979 | 99803 | Haddad syndrome | | C1859587 | ORPHA | 1 | | 2692 | 9967 | 164761 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RET CL E G H | 5979 | 162300 | Multiple endocrine neoplasia, type 2b | 162300 | C0025269 | OMIM | 1 | | 2692 | 9967 | 164761 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RETREG1 CL E G H | 54463 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 453 | 25964 | 613114 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 1 | | 133 | 9968 | 602776 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RFC2 CL E G H | 5982 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 180 | 9970 | 600404 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RFT1 CL E G H | 91869 | 244310 | | | | ORPHA | 1 | | 399 | 30220 | 611908 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RIN2 CL E G H | 54453 | 613075 | Macrocephaly, alopecia, cutis laxa, and scoliosis | 613075 | C2751321 | OMIM | 1 | | 301 | 18750 | 610222 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RIT1 CL E G H | 6016 | 648 | | | | ORPHA | 1 | | 210 | 10023 | 609591 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RMRP CL E G H | 6023 | 175 | | | | ORPHA | 1 | | 625 | 10031 | 157660 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RNF216 CL E G H | 54476 | 1173 | CDG syndrome type 3 | | | ORPHA | 1 | | 211 | 21698 | 609948 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RPE65 CL E G H | 6121 | 65 | | | | ORPHA | 1 | | 658 | 10294 | 180069 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RPGRIP1 CL E G H | 57096 | 65 | | | | ORPHA | 1 | | 786 | 13436 | 605446 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RPGRIP1L CL E G H | 23322 | 220497 | | | | ORPHA | 1 | | 1135 | 29168 | 610937 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1135 | 29168 | 610937 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RPGRIP1L CL E G H | 23322 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 1135 | 29168 | 610937 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RPL10 CL E G H | 6134 | 435938 | | | | ORPHA | 1 | | 265 | 10298 | 312173 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RPS6KA3 CL E G H | 6197 | 303600 | Coffin-Lowry syndrome | 303600 | C0265252 | OMIM | 1 | | 426 | 10432 | 300075 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RPS6KA3 CL E G H | 6197 | 192 | Karandikar Maria Kamble syndrome | | | ORPHA | 1 | | 426 | 10432 | 300075 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RRAS CL E G H | 6237 | 648 | | | | ORPHA | 1 | | 213 | 10447 | 165090 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RREB1 CL E G H | 6239 | 567 | | | | ORPHA | 1 | | 175 | 10449 | 602209 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RRM2B CL E G H | 50484 | 480 | | | | ORPHA | 1 | | 293 | 17296 | 604712 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RXYLT1 CL E G H | 10329 | 899 | | | | ORPHA | 1 | | 213 | 13530 | 605862 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RYR1 CL E G H | 6261 | 597 | | | | ORPHA | 1 | | 5062 | 10483 | 180901 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | RYR1 CL E G H | 6261 | 255320 | Minicore myopathy | 255320 | C1850674 | OMIM | 1 | | 5062 | 10483 | 180901 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SATB2 CL E G H | 23314 | 251019 | | | | ORPHA | 1 | | 566 | 21637 | 608148 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SC5D CL E G H | 6309 | 46059 | | | | ORPHA | 1 | | 220 | 10547 | 602286 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SCN1A CL E G H | 6323 | 33069 | | | | ORPHA | 1 | | 3464 | 10585 | 182389 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SCN1B CL E G H | 6324 | 33069 | | | | ORPHA | 1 | | 444 | 10586 | 600235 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SCN2A CL E G H | 6326 | 306 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SCN2A CL E G H | 6326 | 33069 | | | | ORPHA | 1 | | 1914 | 10588 | 182390 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SCN8A CL E G H | 6334 | 306 | | | | ORPHA | 1 | | 1494 | 10596 | 600702 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SCN9A CL E G H | 6335 | 33069 | | | | ORPHA | 1 | | 1907 | 10597 | 603415 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SCN9A CL E G H | 6335 | 201300 | Hereditary sensory and autonomic neuropathy type IIA | 201300 | C2752089 | OMIM | 1 | | 1907 | 10597 | 603415 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SCO1 CL E G H | 6341 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 161 | 10603 | 603644 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SCO2 CL E G H | 9997 | 604377 | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency | 604377 | C1858424 | OMIM | 1 | | 514 | 10604 | 604272 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SDHA CL E G H | 6389 | 255241 | | | | ORPHA | 1 | | 2186 | 10680 | 600857 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SDHA CL E G H | 6389 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 2186 | 10680 | 600857 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SEC24C CL E G H | 9632 | 567 | | | | ORPHA | 1 | | 25 | 10705 | 607185 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SEC24D CL E G H | 9871 | 2050 | Ectodermal dysplasia Margarita type | | | ORPHA | 1 | | 286 | 10706 | 607186 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SELENON CL E G H | 57190 | 2020 | | | | ORPHA | 1 | | 537 | 15999 | 606210 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SELENON CL E G H | 57190 | 602771 | Eichsfeld type congenital muscular dystrophy | 602771 | C0410180 | OMIM | 1 | | 537 | 15999 | 606210 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SEMA3E CL E G H | 9723 | 138 | | | | ORPHA | 1 | | 451 | 10727 | 608166 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SEMA5A CL E G H | 9037 | 281 | Ramer Ladda syndrome | | | ORPHA | 1 | | 174 | 10736 | 609297 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SETD2 CL E G H | 29072 | 821 | | | | ORPHA | 1 | | 830 | 18420 | 612778 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SIK1 CL E G H | 150094 | 1935 | | | | ORPHA | 1 | | 779 | 11142 | 605705 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SIL1 CL E G H | 64374 | 559 | | | | ORPHA | 1 | | 229 | 24624 | 608005 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SIM1 CL E G H | 6492 | 171829 | | | | ORPHA | 1 | | 166 | 10882 | 603128 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SIN3A CL E G H | 25942 | 613406 | Witteveen-kolk syndrome | 613406 | C3150674 | OMIM | 1 | | 218 | 19353 | 607776 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SIX3 CL E G H | 6496 | 157170 | Holoprosencephaly 2 | 157170 | C1834877 | OMIM | 1 | | 136 | 10889 | 603714 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SIX6 CL E G H | 4990 | 206900 | Microphthalmia syndromic 3 | 206900 | C1859773 | OMIM | 1 | | 78 | 10892 | 606326 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SKI CL E G H | 6497 | 1606 | | | | ORPHA | 1 | | 910 | 10896 | 164780 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SKI CL E G H | 6497 | 2462 | | | | ORPHA | 1 | | 910 | 10896 | 164780 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC13A5 CL E G H | 284111 | 3006 | | | | ORPHA | 1 | | 568 | 23089 | 608305 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 411 | 10933 | 604322 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC17A5 CL E G H | 26503 | 269920 | Sialic acid storage disease, severe infantile type | 269920 | C1096902 | OMIM | 1 | | 411 | 10933 | 604322 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC19A3 CL E G H | 80704 | 255241 | | | | ORPHA | 1 | | 482 | 16266 | 606152 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC22A5 CL E G H | 6584 | 212140 | Renal carnitine transport defect | 212140 | C0342788 | OMIM | 1 | | 874 | 10969 | 603377 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC25A19 CL E G H | 60386 | 99742 | | | | ORPHA | 1 | | 136 | 14409 | 606521 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC25A22 CL E G H | 79751 | 1935 | | | | ORPHA | 1 | | 478 | 19954 | 609302 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC25A3 CL E G H | 5250 | 91130 | | | | ORPHA | 1 | | 114 | 10989 | 600370 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC25A3 CL E G H | 5250 | 610773 | Mitochondrial phosphate carrier deficiency | 610773 | C1835845 | OMIM | 1 | | 114 | 10989 | 600370 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC26A2 CL E G H | 1836 | 628 | | | | ORPHA | 1 | | 549 | 10994 | 606718 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC26A4 CL E G H | 5172 | 95713 | | | | ORPHA | 1 | | 1066 | 8818 | 605646 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC26A4 CL E G H | 5172 | 95720 | | | | ORPHA | 1 | | 1066 | 8818 | 605646 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC34A3 CL E G H | 142680 | 241530 | Autosomal recessive hypophosphatemic bone disease | 241530 | C1853271 | OMIM | 1 | | 389 | 20305 | 609826 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC35C1 CL E G H | 55343 | 266265 | Congenital disorder of glycosylation type 2C | 266265 | C0398739 | OMIM | 1 | | 250 | 20197 | 605881 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC3A1 CL E G H | 6519 | 163690 | | | | ORPHA | 1 | | 335 | 11025 | 104614 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC3A1 CL E G H | 6519 | 163693 | | | | ORPHA | 1 | | 335 | 11025 | 104614 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC46A1 CL E G H | 113235 | 229050 | Congenital defect of folate absorption | 229050 | C0342705 | OMIM | 1 | | 265 | 30521 | 611672 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC52A2 CL E G H | 79581 | 97229 | | | | ORPHA | 1 | | 458 | 30224 | 607882 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC52A3 CL E G H | 113278 | 97229 | | | | ORPHA | 1 | | 399 | 16187 | 613350 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC52A3 CL E G H | 113278 | 211530 | Brown-Vialetto-Van Laere syndrome 1 | 211530 | CN029849 | OMIM | 1 | | 399 | 16187 | 613350 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC5A5 CL E G H | 6528 | 95716 | | | | ORPHA | 1 | | 150 | 11040 | 601843 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC6A19 CL E G H | 340024 | 2116 | Encephalopathy-basal ganglia-calcification | | | ORPHA | 1 | | 371 | 27960 | 608893 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC6A8 CL E G H | 6535 | 52503 | | | | ORPHA | 1 | | 903 | 11055 | 300036 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SLC7A7 CL E G H | 9056 | 222700 | Lysinuric protein intolerance | 222700 | C0268647 | OMIM | 1 | | 528 | 11065 | 603593 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SMARCA4 CL E G H | 6597 | 1465 | | | | ORPHA | 1 | | 4367 | 11100 | 603254 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SMARCB1 CL E G H | 6598 | 1465 | | | | ORPHA | 1 | | 901 | 11103 | 601607 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SMARCE1 CL E G H | 6605 | 1465 | | | | ORPHA | 1 | | 660 | 11109 | 603111 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SMC1A CL E G H | 8243 | 319182 | | | | ORPHA | 1 | | 798 | 11111 | 300040 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SMPD1 CL E G H | 6609 | 257200 | Niemann-Pick disease, type A | 257200 | C0268242 | OMIM | 1 | | 747 | 11120 | 607608 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SMS CL E G H | 6611 | 309583 | Snyder Robinson syndrome | 309583 | C0796160 | OMIM | 1 | | 264 | 11123 | 300105 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SNAP29 CL E G H | 9342 | 609528 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | 609528 | C1836033 | OMIM | 1 | | 599 | 11133 | 604202 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SOS1 CL E G H | 6654 | 648 | | | | ORPHA | 1 | | 1224 | 11187 | 182530 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SOS2 CL E G H | 6655 | 648 | | | | ORPHA | 1 | | 916 | 11188 | 601247 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SOX10 CL E G H | 6663 | 163746 | | | | ORPHA | 1 | | 302 | 11190 | 602229 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SOX11 CL E G H | 6664 | 1465 | | | | ORPHA | 1 | | 130 | 11191 | 600898 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SOX2 CL E G H | 6657 | 206900 | Microphthalmia syndromic 3 | 206900 | C1859773 | OMIM | 1 | | 174 | 11195 | 184429 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SOX5 CL E G H | 6660 | 313892 | | | | ORPHA | 1 | | 205 | 11201 | 604975 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SOX9 CL E G H | 6662 | 114290 | Camptomelic dysplasia | 114290 | C1861922 | OMIM | 1 | | 280 | 11204 | 608160 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SPARC CL E G H | 6678 | 616507 | Osteogenesis imperfecta, type xvii | 616507 | C4225301 | OMIM | 1 | | 106 | 11219 | 182120 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SPATA7 CL E G H | 55812 | 65 | | | | ORPHA | 1 | | 332 | 20423 | 609868 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SPECC1L CL E G H | 23384 | 145410 | Opitz G/BBB syndrome | 145410 | C1801950 | OMIM | 1 | | 230 | 29022 | 614140 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | ST3GAL5 CL E G H | 8869 | 609056 | Amish infantile epilepsy syndrome | 609056 | C1836824 | OMIM | 1 | | 309 | 10872 | 604402 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | STIM1 CL E G H | 6786 | 612783 | Immune dysfunction with T-cell inactivation due to calcium entry defect 2 | 612783 | C2748557 | OMIM | 1 | | 522 | 11386 | 605921 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | STRA6 CL E G H | 64220 | 601186 | Microphthalmia syndromic 9 | 601186 | C1832661 | OMIM | 1 | | 262 | 30650 | 610745 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | STXBP1 CL E G H | 6812 | 33069 | | | | ORPHA | 1 | | 871 | 11444 | 602926 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SUCLA2 CL E G H | 8803 | 612073 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | 612073 | C2749864 | OMIM | 1 | | 309 | 11448 | 603921 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SUCLG1 CL E G H | 8802 | 245400 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) | 245400 | C3151476 | OMIM | 1 | | 219 | 11449 | 611224 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SURF1 CL E G H | 6834 | 255241 | | | | ORPHA | 1 | | 355 | 11474 | 185620 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | SURF1 CL E G H | 6834 | 256000 | Leigh syndrome | 256000 | C0023264 | OMIM | 1 | | 355 | 11474 | 185620 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TACO1 CL E G H | 51204 | 255241 | | | | ORPHA | 1 | | 83 | 24316 | 612958 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TACO1 CL E G H | 51204 | 220110 | Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency | 220110 | C0268237 | OMIM | 1 | | 83 | 24316 | 612958 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TBC1D20 CL E G H | 128637 | 2510 | | | | ORPHA | 1 | | 154 | 16133 | 611663 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TBC1D24 CL E G H | 57465 | 220500 | Digitorenocerebral syndrome | 220500 | C1857345 | OMIM | 1 | | 795 | 29203 | 613577 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TBL2 CL E G H | 26608 | 904 | Blepharophimosis nasal groove growth retardation | | | ORPHA | 1 | | 166 | 11586 | 605842 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TBX1 CL E G H | 6899 | 567 | | | | ORPHA | 1 | | 972 | 11592 | 602054 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TBX1 CL E G H | 6899 | 1727 | | | | ORPHA | 1 | | 972 | 11592 | 602054 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TCF4 CL E G H | 6925 | 2896 | Hypogonadism retinitis pigmentosa | | | ORPHA | 1 | | 913 | 11634 | 602272 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TCF4 CL E G H | 6925 | 610954 | Pitt-Hopkins syndrome | 610954 | C1970431 | OMIM | 1 | | 913 | 11634 | 602272 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TCTN1 CL E G H | 79600 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 298 | 26113 | 609863 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TCTN2 CL E G H | 79867 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 453 | 25774 | 613846 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TG CL E G H | 7038 | 95716 | | | | ORPHA | 1 | | 546 | 11764 | 188450 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TGFBR2 CL E G H | 7048 | 144 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | THRA CL E G H | 7067 | 97927 | | | | ORPHA | 1 | | 50 | 11796 | 190120 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | THRB CL E G H | 7068 | 97927 | | | | ORPHA | 1 | | 327 | 11799 | 190160 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TK2 CL E G H | 7084 | 609560 | Mitochondrial DNA depletion syndrome 2 | 609560 | C3149750 | OMIM | 1 | | 356 | 11831 | 188250 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMCO1 CL E G H | 54499 | 213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | 213980 | C1859252 | OMIM | 1 | | 65 | 18188 | 614123 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM138 CL E G H | 51524 | 2318 | | | | ORPHA | 1 | | 132 | 26944 | 614459 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM216 CL E G H | 51259 | 2318 | | | | ORPHA | 1 | | 195 | 25018 | 613277 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM216 CL E G H | 51259 | 608091 | Joubert syndrome 2 | 608091 | C1842577 | OMIM | 1 | | 195 | 25018 | 613277 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM231 CL E G H | 79583 | 2318 | | | | ORPHA | 1 | | 341 | 37234 | 614949 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM237 CL E G H | 65062 | 2318 | | | | ORPHA | 1 | | 390 | 14432 | 614423 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM237 CL E G H | 65062 | 220497 | | | | ORPHA | 1 | | 390 | 14432 | 614423 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM237 CL E G H | 65062 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 390 | 14432 | 614423 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM67 CL E G H | 91147 | 475 | Acquired hypoprothrombinemia | | | ORPHA | 1 | | 674 | 28396 | 609884 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 674 | 28396 | 609884 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM67 CL E G H | 91147 | 1454 | Common atrioventricular canal | | C0221215 | ORPHA | 1 | | 674 | 28396 | 609884 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM67 CL E G H | 91147 | 610688 | Joubert syndrome 6 | 610688 | C1853153 | OMIM | 1 | | 674 | 28396 | 609884 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TMEM70 CL E G H | 54968 | 1194 | | | | ORPHA | 1 | | 252 | 26050 | 612418 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TNXB CL E G H | 7148 | 230839 | | | | ORPHA | 1 | | 1688 | 11976 | 600985 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TOR1A CL E G H | 1861 | 128100 | Dystonia 1 | 128100 | C1851945 | OMIM | 1 | | 172 | 3098 | 605204 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TPI1 CL E G H | 7167 | 868 | | | | ORPHA | 1 | | 144 | 12009 | 190450 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TPM2 CL E G H | 7169 | 2020 | | | | ORPHA | 1 | | 280 | 12011 | 190990 |
HP:0001252 | HP:0001252 | Hypotonia | 0 | TPM2 CL E G H | 7169 | 609285 | Nemaline myopathy 4 | 609285 | C1836447 | OMIM | 1 | | 280 | 12011 | |