Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 96 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 96 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 96 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | | | | 96 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 96 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | | | | 96 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | | | | 5 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 127 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ALDH7A1 CL E G H | 501 | 877 | OMIM:266100 | Epilepsy, pyridoxine-dependent | . | | | 227 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ALDH7A1 CL E G H | 501 | 877 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040282 - Frequent | | | 227 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | | | | 46 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | | | | 93 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | | | | 93 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 7 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | | | | 15 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ATP1A2 CL E G H | 477 | 800 | OMIM:619602 | FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD | | | | 239 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 239 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 150 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | | | | 36 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | BICD2 CL E G H | 23299 | 17208 | ORPHA:363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | | | | 46 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | | | | 46 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 99 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | | | | 99 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 449 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 5 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 59 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 65 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 74 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 88 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CHRND CL E G H | 1144 | 1965 | OMIM:616322 | Myasthenic syndrome, congenital, 3B, fast-channel | | | | 88 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 139 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | | | | 68 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 68 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 18 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | | | | 40 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | | | | 9 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | | | | 9 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 65 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 6 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | 3 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | | | | 442 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 442 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | | | | 478 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 478 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | | | | 702 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | | | | 702 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | COX15 CL E G H | 1355 | 2263 | OMIM:615119 | Mitochondrial complex IV deficiency, nuclear type 6 | | | | 104 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | | | | 33 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 47 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | | | | 152 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | | | | 41 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 72 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | | | | 94 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 167 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | | | | 167 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | | | | 91 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | | | | 38 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 60 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | | | | 12 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | | | | 83 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | | | | 145 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | | | | 145 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | | | | 13 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 5 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 4 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 44 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 139 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | | | | 86 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | | | | 128 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GLDN CL E G H | 342035 | 29514 | OMIM:617194 | Lethal congenital contracture syndrome 11 | | | | 6 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GLRB CL E G H | 2743 | 4329 | OMIM:614619 | Hyperekplexia 2 | | | | 46 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | | | | 34 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | | | | 4 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 54 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | HSPG2 CL E G H | 3339 | 5273 | ORPHA:800 | Schwartz-Jampel syndrome | HP:0040283 - Occasional | | | 345 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | | | | 9 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | | | | 209 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | | | | 119 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 127 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 13 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 65 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | KLHL40 CL E G H | 131377 | 30372 | OMIM:615348 | NEMALINE MYOPATHY 8; NEM8 | | | | 28 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 28 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 13 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | KLHL41 CL E G H | 10324 | 16905 | OMIM:615731 | Nemaline myopathy 9 | | | | 13 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 13 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | | | | 6 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:157973 | Congenital muscular dystrophy due to LMNA mutation | | | | 645 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | | | | 645 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | | | | 645 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | LMNA CL E G H | 4000 | 6636 | OMIM:619793 | RESTRICTIVE DERMOPATHY 2; RSDM2 | | | | 645 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | | | | 11 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 11 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | | | | 63 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 63 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 63 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 63 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 63 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | | | | 63 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | | | | 11 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | | | | 158 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | | | | 134 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 7 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | | | | 35 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 19 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYH3 CL E G H | 4621 | 7573 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040282 - Frequent | | | 166 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 1269 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYL1 CL E G H | 4632 | 7582 | OMIM:618414 | Myopathy, congenital, with fast-twitch (type ii) fiber atrophy | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 131 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | | | | 5 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NALCN CL E G H | 259232 | 19082 | ORPHA:2053 | Freeman-Sheldon syndrome | HP:0040282 - Frequent | | | 48 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NEB CL E G H | 4703 | 7720 | OMIM:619334 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6 | | | | 745 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 745 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | | | | 745 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | | | | 745 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NECAP1 CL E G H | 25977 | 24539 | OMIM:615833 | Epileptic encephalopathy, early infantile, 21 | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 494 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 8 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NUP88 CL E G H | 4927 | 8067 | OMIM:618393 | Fetal akinesia deformation sequence 4 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 121 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 121 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 121 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 14 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | | | | 62 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | | | | 47 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:99803 | Haddad syndrome | | | | 86 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | | | | 7 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | | | | 105 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PLPBP CL E G H | 11212 | 9457 | ORPHA:3006 | Pyridoxine-dependent epilepsy | HP:0040282 - Frequent | | | 6 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 7 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PREPL CL E G H | 9581 | 30228 | ORPHA:163690 | Hypotonia-cystinuria syndrome | | | | 7 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | | | | 8 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | | | | 27 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | | | | 6 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | | | | 150 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | | | 73 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RET CL E G H | 5979 | 9967 | ORPHA:99803 | Haddad syndrome | | | | 572 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | | | | 1200 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | | | | 1200 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 1200 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 70 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 357 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 144 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 144 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 73 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | | | | 57 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 3 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 28 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | | | | 36 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | | | | 55 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163690 | Hypotonia-cystinuria syndrome | | | | 55 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 9 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040283 - Occasional | | | 91 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | | | | 22 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SNAP25 CL E G H | 6616 | 11132 | OMIM:616330 | Myasthenic syndrome, congenital, 18 | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | | | | 37 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | | | | 37 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | | | | 37 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | | | | 37 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | | | | 1129 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | | | | 1129 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 108 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 9 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 4 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 123 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 54 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 54 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | | | | 108 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | | | | 108 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | | | | 108 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | | | | 214 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | | | | 43 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | | | | 35 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 13 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | VAMP1 CL E G H | 6843 | 12642 | OMIM:618323 | Myasthenic syndrome, congenital, 25, presynaptic | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | | | | 2 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | | | | 224 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | 149 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | | | | | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ZBTB42 CL E G H | 100128927 | 32550 | OMIM:616248 | Lethal congenital contracture syndrome 6 | | | | 1 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | | | | 19 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | | | | 83 | | |
HP:0001557 | HP:0001557 | Prenatal movement abnormality | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | | | | 83 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | AARS1 CL E G H | 16 | 20 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 96 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 96 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ACTA1 CL E G H | 58 | 129 | OMIM:161800 | Nemaline myopathy 3 | . | | | 96 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 96 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ACTA1 CL E G H | 58 | 129 | ORPHA:97240 | Zebra body myopathy | HP:0040281 - Very frequent | | | 96 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ACTL6B CL E G H | 51412 | 160 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ADGRG6 CL E G H | 57211 | 13841 | OMIM:616503 | Lethal congenital contracture syndrome 9 | . | | | 5 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | AGRN CL E G H | 375790 | 329 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 127 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ALG14 CL E G H | 199857 | 28287 | OMIM:619036 | MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA | | | | 12 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ALG8 CL E G H | 79053 | 23161 | OMIM:608104 | Congenital disorder of glycosylation, type Ih | . | | | 46 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ALG9 CL E G H | 79796 | 15672 | ORPHA:79328 | ALG9-CDG | HP:0040283 - Occasional | | | 93 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ALG9 CL E G H | 79796 | 15672 | OMIM:608776 | Congenital disorder of glycosylation, type Il | . | | | 93 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | AP3B2 CL E G H | 8120 | 567 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 7 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ARV1 CL E G H | 64801 | 29561 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ASCC1 CL E G H | 51008 | 24268 | OMIM:616867 | Spinal muscular atrophy with congenital bone fractures 2 | | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ASCL1 CL E G H | 429 | 738 | ORPHA:99803 | Haddad syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ATP1A2 CL E G H | 477 | 800 | OMIM:619602 | FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD | | | | 239 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ATP1A2 CL E G H | 477 | 800 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 239 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ATP1A3 CL E G H | 478 | 801 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 150 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ATP6V1A CL E G H | 523 | 851 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | B3GLCT CL E G H | 145173 | 20207 | ORPHA:709 | Peters plus syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | BICD2 CL E G H | 23299 | 17208 | ORPHA:363454 | BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy | HP:0040283 - Occasional | | | 46 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | BICD2 CL E G H | 23299 | 17208 | OMIM:618291 | Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | . | | | 46 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | BIN1 CL E G H | 274 | 1052 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 99 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | BIN1 CL E G H | 274 | 1052 | OMIM:255200 | Myopathy, centronuclear, 2 | | | | 99 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CACNA1A CL E G H | 773 | 1388 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 449 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CACNA1B CL E G H | 774 | 1389 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CACNA2D1 CL E G H | 781 | 1399 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 59 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CAMKMT CL E G H | 79823 | 26276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CCDC174 CL E G H | 51244 | 28033 | OMIM:616816 | Hypotonia, infantile, with psychomotor retardation | . | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CDK19 CL E G H | 23097 | 19338 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CELF2 CL E G H | 10659 | 2550 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CHAT CL E G H | 1103 | 1912 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 65 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 74 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 88 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CHRND CL E G H | 1144 | 1965 | OMIM:616322 | Myasthenic syndrome, congenital, 3B, fast-channel | HP:0040283 - Occasional | | | 88 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CHRNE CL E G H | 1145 | 1966 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 139 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:265000 | Multiple pterygium syndrome, escobar variant | . | | | 68 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | | | | 68 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CHUK CL E G H | 1147 | 1974 | OMIM:613630 | Fetal encasement syndrome | | | | 3 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CLTC CL E G H | 1213 | 2092 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CNKSR2 CL E G H | 22866 | 19701 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 18 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | . | | | 9 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | . | | | 9 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | COL12A1 CL E G H | 1303 | 2188 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 65 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | COL13A1 CL E G H | 1305 | 2190 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 6 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | 3 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | COL6A1 CL E G H | 1291 | 2211 | OMIM:158810 | Bethlem myopathy 1 | . | | | 442 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | COL6A1 CL E G H | 1291 | 2211 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 442 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | COL6A2 CL E G H | 1292 | 2212 | OMIM:158810 | Bethlem myopathy 1 | . | | | 478 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | COL6A2 CL E G H | 1292 | 2212 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 478 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | COL6A3 CL E G H | 1293 | 2213 | OMIM:158810 | Bethlem myopathy 1 | . | | | 702 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | COL6A3 CL E G H | 1293 | 2213 | ORPHA:75840 | Congenital muscular dystrophy, Ullrich type | HP:0040282 - Frequent | | | 702 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | COX15 CL E G H | 1355 | 2263 | OMIM:615119 | Mitochondrial complex IV deficiency, nuclear type 6 | . | | | 104 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | . | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | CYFIP2 CL E G H | 26999 | 13760 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DALRD3 CL E G H | 55152 | 25536 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DHDDS CL E G H | 79947 | 20603 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 47 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DMPK CL E G H | 1760 | 2933 | OMIM:160900 | Myotonic dystrophy 1 | . | | | 152 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DNA2 CL E G H | 1763 | 2939 | ORPHA:352470 | DNA2-related mitochondrial DNA deletion syndrome | HP:0040282 - Frequent | | | 41 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DNM1 CL E G H | 1759 | 2972 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 72 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DNM1L CL E G H | 10059 | 2973 | OMIM:614388 | Encephalopathy due to defective mitochondrial and peroxisomal fission 1 | . | | | 94 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DNM2 CL E G H | 1785 | 2974 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 167 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DNM2 CL E G H | 1785 | 2974 | OMIM:615368 | Lethal congenital contracture syndrome 5 | . | | | 167 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DOK7 CL E G H | 285489 | 26594 | OMIM:254300 | Myasthenia, limb-girdle, familial | HP:0040283 - Occasional | | | 91 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040284 - Very rare | | | 38 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | EEF1A2 CL E G H | 1917 | 3192 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 60 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | . | | | 12 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ERCC5 CL E G H | 2073 | 3437 | OMIM:616570 | Cerebrooculofacioskeletal syndrome 3 | . | | | 83 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ERGIC1 CL E G H | 57222 | 29205 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | EXOSC9 CL E G H | 5393 | 9137 | OMIM:618065 | Pontocerebellar hypoplasia, type 1D | . | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | FGF12 CL E G H | 2257 | 3668 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | FGF13 CL E G H | 2258 | 3670 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187600 | Thanatophoric dysplasia, type I | . | | | 145 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:187601 | Thanatophoric dysplasia, type II | . | | | 145 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | FKBP14 CL E G H | 55033 | 18625 | OMIM:614557 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | | | | 13 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | FXR1 CL E G H | 8087 | 4023 | OMIM:618823 | MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | FZR1 CL E G H | 51343 | 24824 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GABBR2 CL E G H | 9568 | 4507 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 5 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GABRA2 CL E G H | 2555 | 4076 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 4 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GABRA5 CL E G H | 2558 | 4079 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GABRB2 CL E G H | 2561 | 4082 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 44 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 139 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040281 - Very frequent | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GBA1 CL E G H | 2629 | 4177 | OMIM:608013 | Gaucher disease, perinatal lethal | . | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GBE1 CL E G H | 2632 | 4180 | OMIM:232500 | Glycogen storage disease IV | . | | | 86 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GFPT1 CL E G H | 2673 | 4241 | OMIM:608931 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | . | | | 128 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GGPS1 CL E G H | 9453 | 4249 | OMIM:619518 | MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GLDN CL E G H | 342035 | 29514 | OMIM:617194 | Lethal congenital contracture syndrome 11 | . | | | 6 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | | | | 45 | | |
HP:0001557 | HP:0010519 | Increased fetal movement | 1 | GLRB CL E G H | 2743 | 4329 | OMIM:614619 | Hyperekplexia 2 | | | | 46 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GMPPB CL E G H | 29925 | 22932 | OMIM:615351 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 | . | | | 34 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GPKOW CL E G H | 27238 | 30677 | ORPHA:2570 | Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | GRIN2D CL E G H | 2906 | 4588 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | H19 CL E G H | 283120 | 4713 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 4 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | HACD1 CL E G H | 9200 | 9639 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | HCN1 CL E G H | 348980 | 4845 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | IGF2 CL E G H | 3481 | 5466 | ORPHA:231144 | Silver-Russell syndrome due to 11p15 microduplication | HP:0040283 - Occasional | | | 9 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | IGHMBP2 CL E G H | 3508 | 5542 | OMIM:604320 | Spinal muscular atrophy, distal, autosomal recessive, 1 | . | | | 209 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | HP:0040284 - Very rare | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 119 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ITGA7 CL E G H | 3679 | 6143 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 127 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 80 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | KCNA2 CL E G H | 3737 | 6220 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | KCNB1 CL E G H | 3745 | 6231 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | KLHL40 CL E G H | 131377 | 30372 | OMIM:615348 | NEMALINE MYOPATHY 8; NEM8 | | | | 28 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | KLHL40 CL E G H | 131377 | 30372 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 28 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 13 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | KLHL41 CL E G H | 10324 | 16905 | OMIM:615731 | Nemaline myopathy 9 | | | | 13 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 13 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | . | | | 6 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:157973 | Congenital muscular dystrophy due to LMNA mutation | HP:0040283 - Occasional | | | 645 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:613205 | Muscular dystrophy, congenital, lmna-related | . | | | 645 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 645 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | LMNA CL E G H | 4000 | 6636 | OMIM:619793 | RESTRICTIVE DERMOPATHY 2; RSDM2 | | | | 645 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | LMOD3 CL E G H | 56203 | 6649 | OMIM:616165 | Nemaline myopathy 10 | . | | | 11 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | LMOD3 CL E G H | 56203 | 6649 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 11 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:398069 | MAGEL2-related Prader-Willi-like syndrome | HP:0040282 - Frequent | | | 63 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | 63 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 63 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 63 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MAGEL2 CL E G H | 54551 | 6814 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 63 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | . | | | 63 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MAP3K7 CL E G H | 6885 | 6859 | OMIM:157800 | Cardiospondylocarpofacial syndrome | | | | 11 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MEGF10 CL E G H | 84466 | 29634 | OMIM:614399 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | . | | | 158 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MPZ CL E G H | 4359 | 7225 | OMIM:618184 | Neuropathy, congenital hypomyelinating, 2 | . | | | 134 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | . | | | 185 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MTM1 CL E G H | 4534 | 7448 | ORPHA:596 | X-linked centronuclear myopathy | | | | 185 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MTMR14 CL E G H | 64419 | 26190 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 7 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYCN CL E G H | 4613 | 7559 | OMIM:164280 | Feingold syndrome 1 | . | | | 35 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYF6 CL E G H | 4618 | 7566 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 19 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYH3 CL E G H | 4621 | 7573 | OMIM:193700 | Arthrogryposis, distal, type 2A | | | | 166 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYH7 CL E G H | 4625 | 7577 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1269 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYL1 CL E G H | 4632 | 7582 | OMIM:618414 | Myopathy, congenital, with fast-twitch (type ii) fiber atrophy | . | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYL2 CL E G H | 4633 | 7583 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 131 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYMK CL E G H | 389827 | 33778 | OMIM:254940 | Carey-Fineman-Ziter syndrome | . | | | 5 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYO9A CL E G H | 4649 | 7608 | OMIM:618198 | Myasthenic syndrome, congenital, 24, presynaptic | . | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYO9A CL E G H | 4649 | 7608 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 217 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NAA10 CL E G H | 8260 | 18704 | OMIM:300855 | Ogden syndrome | | | | 23 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NAA20 CL E G H | 51126 | 15908 | OMIM:619717 | INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73 | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NDN CL E G H | 4692 | 7675 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NEB CL E G H | 4703 | 7720 | OMIM:619334 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6 | | | | 745 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 745 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NEB CL E G H | 4703 | 7720 | OMIM:256030 | Nemaline myopathy 2, autosomal recessive | . | | | 745 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NEB CL E G H | 4703 | 7720 | ORPHA:171430 | Severe congenital nemaline myopathy | HP:0040282 - Frequent | | | 745 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NECAP1 CL E G H | 25977 | 24539 | OMIM:615833 | Epileptic encephalopathy, early infantile, 21 | . | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NECAP1 CL E G H | 25977 | 24539 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | | | | 9 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | | | |
HP:0001557 | HP:0010519 | Increased fetal movement | 1 | NEXMIF CL E G H | 340533 | 29433 | OMIM:300912 | Mental retardation, X-linked 98 | | | | 52 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NFASC CL E G H | 23114 | 29866 | OMIM:618356 | Neurodevelopmental disorder with central and peripheral motor dysfunction | HP:0040284 - Very rare | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NSD1 CL E G H | 64324 | 14234 | OMIM:117550 | Sotos syndrome 1 | | | | 544 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | . | | | 118 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 118 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NTRK2 CL E G H | 4915 | 8032 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 8 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NUP188 CL E G H | 23511 | 17859 | OMIM:618804 | SANDESTIG-STEFANOVA SYNDROME; SANDSTEF | | | | 4 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NUP88 CL E G H | 4927 | 8067 | OMIM:618393 | Fetal akinesia deformation sequence 4 | . | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | NUS1 CL E G H | 116150 | 21042 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 121 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 121 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | OCA2 CL E G H | 4948 | 8101 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 121 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PARS2 CL E G H | 25973 | 30563 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 14 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PAX7 CL E G H | 5081 | 8621 | OMIM:618578 | MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PEX19 CL E G H | 5824 | 9713 | OMIM:614886 | Peroxisome biogenesis disorder 12A (Zellweger) | . | | | 62 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PEX3 CL E G H | 8504 | 8858 | OMIM:614882 | Peroxisome biogenesis disorder 10A (Zellweger) | . | | | 47 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PHOX2B CL E G H | 8929 | 9143 | ORPHA:99803 | Haddad syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PLOD1 CL E G H | 5351 | 9081 | OMIM:225400 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | . | | | 105 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | POLR2A CL E G H | 5430 | 9187 | OMIM:618603 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PPM1B CL E G H | 5495 | 9276 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PPP3CA CL E G H | 5530 | 9314 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PREPL CL E G H | 9581 | 30228 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PREPL CL E G H | 9581 | 30228 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PRUNE1 CL E G H | 58497 | 13420 | OMIM:617481 | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | . | | | 8 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PSAT1 CL E G H | 29968 | 19129 | OMIM:616038 | Neu-Laxova syndrome 2 | . | | | 27 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PTRH2 CL E G H | 51651 | 24265 | ORPHA:456312 | Infantile multisystem neurologic-endocrine-pancreatic disease | HP:0040283 - Occasional | | | 6 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RAPSN CL E G H | 5913 | 9863 | OMIM:616326 | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | . | | | 73 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RET CL E G H | 5979 | 9967 | ORPHA:99803 | Haddad syndrome | HP:0040283 - Occasional | | | 572 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:169189 | Autosomal dominant centronuclear myopathy | HP:0040282 - Frequent | | | 1200 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | | | | 1200 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040282 - Frequent | | | 1200 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:619542 | KING-DENBOROUGH SYNDROME; KDS | | | | 1200 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:255320 | Minicore myopathy with external ophthalmoplegia | | | | 1200 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | RYR1 CL E G H | 6261 | 10483 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 1200 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SCN3A CL E G H | 6328 | 10590 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 70 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SCN8A CL E G H | 6334 | 10596 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 357 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SCYL2 CL E G H | 55681 | 19286 | OMIM:618766 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4 | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SCYL2 CL E G H | 55681 | 19286 | ORPHA:1143 | Neurogenic arthrogryposis multiplex congenita | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SELENON CL E G H | 57190 | 15999 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 144 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SELENON CL E G H | 57190 | 15999 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 144 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC13A5 CL E G H | 284111 | 23089 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC16A2 CL E G H | 6567 | 10923 | ORPHA:59 | Allan-Herndon-Dudley syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC1A2 CL E G H | 6506 | 10940 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 3 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC25A1 CL E G H | 6576 | 10979 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 28 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | HP:0040283 - Occasional | | | 36 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC25A26 CL E G H | 115286 | 20661 | OMIM:616794 | Combined oxidative phosphorylation deficiency 28 | | | | 5 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC38A3 CL E G H | 10991 | 18044 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163693 | 2p21 microdeletion syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC3A1 CL E G H | 6519 | 11025 | ORPHA:163690 | Hypotonia-cystinuria syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SLC5A7 CL E G H | 60482 | 14025 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 9 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SMN1 CL E G H | 6606 | 11117 | OMIM:253300 | Spinal muscular atrophy, type I | . | | | 22 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SNAP25 CL E G H | 6616 | 11132 | OMIM:616330 | Myasthenic syndrome, congenital, 18 | . | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SNAP25 CL E G H | 6616 | 11132 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177910 | Prader-Willi syndrome due to imprinting mutation | HP:0040282 - Frequent | | | 37 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:98754 | Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 | HP:0040283 - Occasional | | | 37 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177901 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 | HP:0040283 - Occasional | | | 37 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SNRPN CL E G H | 6638 | 11164 | ORPHA:177904 | Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 | HP:0040283 - Occasional | | | 37 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SOX10 CL E G H | 6663 | 11190 | OMIM:609136 | Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease | | | | 61 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SYNE1 CL E G H | 23345 | 17089 | OMIM:618484 | Arthrogryposis multiplex congenita, Myogenic type | . | | | 1129 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:88644 | Autosomal recessive ataxia, Beauce type | HP:0040283 - Occasional | | | 1129 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SYNE1 CL E G H | 23345 | 17089 | ORPHA:319332 | Autosomal recessive myogenic arthrogryposis multiplex congenita | | | | 1129 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SYNGAP1 CL E G H | 8831 | 11497 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SYNJ1 CL E G H | 8867 | 11503 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 9 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SYT2 CL E G H | 127833 | 11510 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 4 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | SZT2 CL E G H | 23334 | 29040 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 123 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TOR1A CL E G H | 1861 | 3098 | OMIM:618947 | ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5 | | | | 47 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 54 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TPM2 CL E G H | 7169 | 12011 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TPM2 CL E G H | 7169 | 12011 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 54 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | | | | 108 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:2020 | Congenital fiber-type disproportion myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171433 | Intermediate nemaline myopathy | HP:0040282 - Frequent | | | 108 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TPM3 CL E G H | 7170 | 12012 | OMIM:255310 | Myopathy, congenital, with fiber-type disproportion | . | | | 108 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TRAIP CL E G H | 10293 | 30764 | OMIM:616777 | Seckel syndrome 9 | . | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TRAK1 CL E G H | 22906 | 29947 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TRIP4 CL E G H | 9325 | 12310 | OMIM:616866 | Spinal muscular atrophy with congenital bone fractures 1 | | | | 4 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | HP:0040283 - Occasional | | | 214 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:600175 | Spinal muscular atrophy, distal, congenital nonprogressive | . | | | 214 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TSFM CL E G H | 10102 | 12367 | OMIM:610505 | Combined oxidative phosphorylation deficiency 3 | . | | | 43 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | UBA1 CL E G H | 7317 | 12469 | OMIM:301830 | Spinal muscular atrophy, X-linked 2 | . | | | 35 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | UBA5 CL E G H | 79876 | 23230 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | UNC45B CL E G H | 146862 | 14304 | OMIM:619178 | MYOFIBRILLAR MYOPATHY 11; MFM11 | | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | USP7 CL E G H | 7874 | 12630 | ORPHA:500055 | 16p13.2 microdeletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | VAMP1 CL E G H | 6843 | 12642 | OMIM:618323 | Myasthenic syndrome, congenital, 25, presynaptic | . | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | VAMP1 CL E G H | 6843 | 12642 | ORPHA:98914 | Presynaptic congenital myasthenic syndromes | HP:0040282 - Frequent | | | 2 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040282 - Frequent | | | 546 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | WDR62 CL E G H | 284403 | 24502 | OMIM:604317 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | . | | | 224 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | WWOX CL E G H | 51741 | 12799 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | 149 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | YWHAG CL E G H | 7532 | 12852 | ORPHA:442835 | Non-specific early-onset epileptic encephalopathy | HP:0040283 - Occasional | | | | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ZBTB42 CL E G H | 100128927 | 32550 | OMIM:616248 | Lethal congenital contracture syndrome 6 | . | | | 1 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:314580 | Wieacker-Wolff syndrome | . | | | 19 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:1662 | Restrictive dermopathy | HP:0040281 - Very frequent | | | 83 | | |
HP:0001557 | HP:0001558 | Decreased fetal movement | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | OMIM:275210 | Restrictive dermopathy, lethal | . | | | 83 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | ACTA1 CL E G H | 58 | 129 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 96 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | ATP1A2 CL E G H | 477 | 800 | OMIM:619602 | FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD | | | | 239 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | CHRNA1 CL E G H | 1134 | 1955 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 74 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | CHRND CL E G H | 1144 | 1965 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 88 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | CHRNG CL E G H | 1146 | 1967 | OMIM:253290 | Multiple pterygium syndrome, Lethal type | . | | | 68 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | CNTN1 CL E G H | 1272 | 2171 | OMIM:612540 | Myopathy, congenital, compton-north | . | | | 40 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:616286 | Lethal congenital contracture syndrome 7 | . | | | 9 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 91 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | DOK7 CL E G H | 285489 | 26594 | OMIM:618389 | FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3 | | | | 91 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | DPAGT1 CL E G H | 1798 | 2995 | ORPHA:86309 | DPAGT1-CDG | HP:0040284 - Very rare | | | 38 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | GBA1 CL E G H | 2629 | 4177 | ORPHA:85212 | Fetal Gaucher disease | HP:0040282 - Frequent | | | | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | GLE1 CL E G H | 2733 | 4315 | OMIM:611890 | Congenital arthrogryposis with anterior horn cell disease | . | | | 45 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | KBTBD13 CL E G H | 390594 | 37227 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 80 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | KIF5C CL E G H | 3800 | 6325 | OMIM:615282 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2 | | | | 18 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | KLHL40 CL E G H | 131377 | 30372 | OMIM:615348 | NEMALINE MYOPATHY 8; NEM8 | | | | 28 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | KLHL41 CL E G H | 10324 | 16905 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 13 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | KLHL41 CL E G H | 10324 | 16905 | OMIM:615731 | Nemaline myopathy 9 | HP:0040283 - Occasional | | | 13 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | LGI4 CL E G H | 163175 | 18712 | OMIM:617468 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect | . | | | 6 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:615547 | Schaaf-Yang syndrome | HP:0040284 - Very rare | | | 63 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | MUSK CL E G H | 4593 | 7525 | OMIM:208150 | Fetal akinesia deformation sequence | . | | | 72 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 72 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | MYOD1 CL E G H | 4654 | 7611 | OMIM:618975 | MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF | | | | | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | MYPN CL E G H | 84665 | 23246 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 217 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | NEB CL E G H | 4703 | 7720 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 745 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | NEK9 CL E G H | 91754 | 18591 | OMIM:617022 | Lethal congenital contracture syndrome 10 | . | | | 9 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 73 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | RAPSN CL E G H | 5913 | 9863 | OMIM:618388 | FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2 | | | | 73 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | RYR1 CL E G H | 6261 | 10483 | ORPHA:597 | Central core disease | HP:0040284 - Very rare | | | 1200 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 2 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | TPM2 CL E G H | 7169 | 12011 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 54 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | TPM3 CL E G H | 7170 | 12012 | ORPHA:171439 | Childhood-onset nemaline myopathy | HP:0040283 - Occasional | | | 108 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | HP:0040283 - Occasional | | | 214 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040281 - Very frequent | | | 106 | | |
HP:0001557 | HP:0001989 | Fetal akinesia sequence | 2 | ZC4H2 CL E G H | 55906 | 24931 | OMIM:301041 | WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR | | | | 19 | | |