Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 64 | 17258 | 606830 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 105 | 20609 | 600859 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 77 | 20609 | 600859 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 254 | 572 | 607245 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 189 | 572 | 607245 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 59 | 697 | 607669 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 58 | 697 | 607669 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 432 | 29357 | 615115 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 411 | 29357 | 615115 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 264 | 25567 | 612316 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 250 | 25567 | 612316 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 93 | 851 | 607027 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 79 | 851 | 607027 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 193 | 13533 | 605870 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 126 | 13533 | 605870 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 643 | 1392 | 601013 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 410 | 1392 | 601013 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 374 | 1394 | 604065 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 357 | 1394 | 604065 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 62 | 1460 | 114078 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 56 | 1460 | 114078 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1399 | 11411 | 300203 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1270 | 11411 | 300203 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 373 | 1965 | 100720 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 331 | 1965 | 100720 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 93 | 2510 | 114025 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 90 | 2510 | 114025 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 110 | 29812 | 610534 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 107 | 29812 | 610534 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 58 | 16716 | 616423 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 49 | 16716 | 616423 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 215 | 15469 | 608375 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 173 | 15469 | 608375 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 506 | 2972 | 602377 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 459 | 2972 | 602377 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 196 | 3267 | 300161 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 163 | 3668 | 601513 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 127 | 3668 | 601513 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 210 | 26927 | 613622 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 231 | 26927 | 613622 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 557 | 4507 | 607340 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 504 | 4507 | 607340 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GEMIN4 CL E G H | 50628 | 617913 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | 617913 | CN889218 | OMIM | 1 | | 149 | 15717 | 606969 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GEMIN4 CL E G H | 50628 | 617913 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | 617913 | CN889218 | OMIM | 1 | | 142 | 15717 | 606969 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 234 | 22932 | 615320 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 203 | 22932 | 615320 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 227 | 4446 | 603048 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 95 | 4446 | 603048 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GRIA4 CL E G H | 2893 | 617864 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES | 617864 | CN800195 | OMIM | 1 | | 51 | 4574 | 138246 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GRIA4 CL E G H | 2893 | 617864 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES | 617864 | CN800195 | OMIM | 1 | | 47 | 4574 | 138246 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 587 | 4584 | 138249 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 531 | 4584 | 138249 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 587 | 4584 | 138249 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 531 | 4584 | 138249 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 50 | 4670 | 607434 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 34 | 4670 | 607434 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1534 | 6296 | 602235 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1380 | 6296 | 602235 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 79 | 26576 | 605739 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 78 | 26576 | 605739 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 2327 | 6482 | 156225 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 2739 | 6482 | 156225 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 41 | 21610 | 610236 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 39 | 21610 | 610236 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 580 | 6814 | 605283 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 557 | 6814 | 605283 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MAST1 CL E G H | 22983 | 618273 | 618273 | 618273 | | OMIM | 1 | | 50 | 19034 | 612256 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MAST1 CL E G H | 22983 | 618273 | 618273 | 618273 | | OMIM | 1 | | 57 | 19034 | 612256 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 66 | 15505 | 606048 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 64 | 15505 | 606048 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MDH2 CL E G H | 4191 | 617339 | Epileptic encephalopathy, early infantile, 51 | 617339 | C4479208 | OMIM | 1 | | 169 | 6971 | 154100 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MDH2 CL E G H | 4191 | 617339 | Epileptic encephalopathy, early infantile, 51 | 617339 | C4479208 | OMIM | 1 | | 90 | 6971 | 154100 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MEF2C CL E G H | 4208 | 613443 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 613443 | C3150700 | OMIM | 1 | | 363 | 6996 | 600662 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MEF2C CL E G H | 4208 | 613443 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 613443 | C3150700 | OMIM | 1 | | 339 | 6996 | 600662 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 113 | 24858 | 614785 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 102 | 24858 | 614785 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MFSD2A CL E G H | 84879 | 616486 | Primary autosomal recessive microcephaly 15 | 616486 | C4225310 | OMIM | 1 | | 58 | 25897 | 614397 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MFSD2A CL E G H | 84879 | 616486 | Primary autosomal recessive microcephaly 15 | 616486 | C4225310 | OMIM | 1 | | 45 | 25897 | 614397 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 522 | 7225 | 159440 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 493 | 7225 | 159440 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 69 | 16618 | 611994 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 63 | 16618 | 611994 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 67 | 29678 | 617619 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 59 | 29678 | 617619 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 1 | | | 7479 | 590025 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 246 | 12399 | 604103 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 267 | 12399 | 604103 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 5313 | 7720 | 161650 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 4674 | 7720 | 161650 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | NTRK2 CL E G H | 4915 | 617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 | 617830 | CN757795 | OMIM | 1 | | 202 | 8032 | 600456 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | NTRK2 CL E G H | 4915 | 617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 | 617830 | CN757795 | OMIM | 1 | | 116 | 8032 | 600456 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | OTUD6B CL E G H | 51633 | 505237 | | | | ORPHA | 1 | | 61 | 24281 | 612021 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | OTUD6B CL E G H | 51633 | 505237 | | | | ORPHA | 1 | | 56 | 24281 | 612021 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | OTUD6B CL E G H | 51633 | 617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 617452 | C4479520 | OMIM | 1 | | 61 | 24281 | 612021 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | OTUD6B CL E G H | 51633 | 617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 617452 | C4479520 | OMIM | 1 | | 56 | 24281 | 612021 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 331 | 15894 | 606157 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 263 | 15894 | 606157 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 87 | 23719 | 611801 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 80 | 23719 | 611801 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 1 | | 709 | 26270 | 613629 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 1 | | 672 | 26270 | 613629 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PIGS CL E G H | 94005 | 618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 | 618143 | | OMIM | 1 | | 30 | 14937 | 610271 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PIGS CL E G H | 94005 | 618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 | 618143 | | OMIM | 1 | | 28 | 14937 | 610271 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 104 | 9171 | 602632 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 88 | 9171 | 602632 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 686 | 9202 | 607423 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 609 | 9202 | 607423 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PYCR2 CL E G H | 29920 | 616420 | Leukodystrophy, hypomyelinating, 10 | 616420 | C4225332 | OMIM | 1 | | 89 | 30262 | 616406 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | PYCR2 CL E G H | 29920 | 616420 | Leukodystrophy, hypomyelinating, 10 | 616420 | C4225332 | OMIM | 1 | | 77 | 30262 | 616406 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 237 | 18756 | 607352 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 137 | 18756 | 607352 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SCN3A CL E G H | 6328 | 617938 | Early infantile epileptic encephalopathy 62 | 617938 | CN244551 | OMIM | 1 | | 897 | 10590 | 182391 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SCN3A CL E G H | 6328 | 617938 | Early infantile epileptic encephalopathy 62 | 617938 | CN244551 | OMIM | 1 | | 742 | 10590 | 182391 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 283 | 21061 | 614725 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 249 | 21061 | 614725 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC12A5 CL E G H | 57468 | 616645 | Early infantile epileptic encephalopathy 34 | 616645 | C4225257 | OMIM | 1 | | 489 | 13818 | 606726 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC12A5 CL E G H | 57468 | 616645 | Early infantile epileptic encephalopathy 34 | 616645 | C4225257 | OMIM | 1 | | 398 | 13818 | 606726 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 1 | | 318 | 10923 | 300095 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 1 | | 290 | 10923 | 300095 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 318 | 10923 | 300095 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 290 | 10923 | 300095 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 335 | 10933 | 604322 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 285 | 10933 | 604322 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 461 | 16266 | 606152 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 400 | 16266 | 606152 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC1A2 CL E G H | 6506 | 617105 | Epileptic encephalopathy, early infantile, 41 | 617105 | C4310717 | OMIM | 1 | | 133 | 10940 | 600300 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC1A2 CL E G H | 6506 | 617105 | Epileptic encephalopathy, early infantile, 41 | 617105 | C4310717 | OMIM | 1 | | 72 | 10940 | 600300 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC1A4 CL E G H | 6509 | 616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 616657 | C4225254 | OMIM | 1 | | 105 | 10942 | 600229 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC1A4 CL E G H | 6509 | 616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 616657 | C4225254 | OMIM | 1 | | 71 | 10942 | 600229 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 261 | 10990 | 103220 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 254 | 10990 | 103220 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC2A1 CL E G H | 6513 | 608885 | Stomatin-deficient cryohydrocytosis with neurologic defects | 608885 | C1837206 | OMIM | 1 | | 753 | 11005 | 138140 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC2A1 CL E G H | 6513 | 608885 | Stomatin-deficient cryohydrocytosis with neurologic defects | 608885 | C1837206 | OMIM | 1 | | 672 | 11005 | 138140 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC39A8 CL E G H | 64116 | 616721 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn | 616721 | C4225234 | OMIM | 1 | | 99 | 20862 | 608732 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC39A8 CL E G H | 64116 | 616721 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn | 616721 | C4225234 | OMIM | 1 | | 93 | 20862 | 608732 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC6A17 CL E G H | 388662 | 616269 | Mental retardation, autosomal recessive 48 | 616269 | C4225395 | OMIM | 1 | | 56 | 31399 | 610299 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SLC6A17 CL E G H | 388662 | 616269 | Mental retardation, autosomal recessive 48 | 616269 | C4225395 | OMIM | 1 | | 48 | 31399 | 610299 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SNX14 CL E G H | 57231 | 616354 | Spinocerebellar ataxia, autosomal recessive 20 | 616354 | C4225355 | OMIM | 1 | | 151 | 14977 | 616105 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SNX14 CL E G H | 57231 | 616354 | Spinocerebellar ataxia, autosomal recessive 20 | 616354 | C4225355 | OMIM | 1 | | 146 | 14977 | 616105 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ST3GAL3 CL E G H | 6487 | 615006 | Early infantile epileptic encephalopathy 15 | 615006 | C3554316 | OMIM | 1 | | 229 | 10866 | 606494 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | ST3GAL3 CL E G H | 6487 | 615006 | Early infantile epileptic encephalopathy 15 | 615006 | C3554316 | OMIM | 1 | | 181 | 10866 | 606494 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | STRADA CL E G H | 92335 | 611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | 611087 | C1970203 | OMIM | 1 | | 235 | 30172 | 608626 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | STRADA CL E G H | 92335 | 611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | 611087 | C1970203 | OMIM | 1 | | 190 | 30172 | 608626 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 909 | 11503 | 604297 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 730 | 11503 | 604297 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 44 | 11509 | 185605 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 39 | 11509 | 185605 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 49 | 25622 | 617687 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 46 | 25622 | 617687 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TFG CL E G H | 10342 | 431329 | | | | ORPHA | 1 | | 263 | 11758 | 602498 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TFG CL E G H | 10342 | 431329 | | | | ORPHA | 1 | | 237 | 11758 | 602498 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 263 | 11758 | 602498 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 237 | 11758 | 602498 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TMEM107 CL E G H | 84314 | 617563 | OROFACIODIGITAL SYNDROME XVI | 617563 | C4539729 | OMIM | 1 | | 161 | 28128 | 616183 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TMEM107 CL E G H | 84314 | 617563 | OROFACIODIGITAL SYNDROME XVI | 617563 | C4539729 | OMIM | 1 | | 101 | 28128 | 616183 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 673 | 25751 | 614138 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 573 | 25751 | 614138 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TRIM2 CL E G H | 23321 | 615490 | Charcot-Marie-Tooth disease, axonal, type 2R | 615490 | C3809655 | OMIM | 1 | | 298 | 15974 | 614141 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TRIM2 CL E G H | 23321 | 615490 | Charcot-Marie-Tooth disease, axonal, type 2R | 615490 | C3809655 | OMIM | 1 | | 263 | 15974 | 614141 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 1 | | 217 | 20772 | 602661 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 1 | | 205 | 20772 | 602661 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 1 | | 765 | 26582 | 612636 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 1 | | 263 | 26582 | 612636 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | UQCRQ CL E G H | 27089 | 615159 | Mitochondrial complex III deficiency, nuclear type 4 | 615159 | C3554607 | OMIM | 1 | | 90 | 29594 | 612080 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | UQCRQ CL E G H | 27089 | 615159 | Mitochondrial complex III deficiency, nuclear type 4 | 615159 | C3554607 | OMIM | 1 | | 89 | 29594 | 612080 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | WDR45B CL E G H | 56270 | 617977 | NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES | 617977 | CN244929 | OMIM | 1 | | 56 | 25072 | 609226 |
HP:0002540 | HP:0002540 | Inability to walk | 0 | WDR45B CL E G H | 56270 | 617977 | NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES | 617977 | CN244929 | OMIM | 1 | | 54 | 25072 | 609226 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 64 | 17258 | 606830 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 64 | 17258 | 606830 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 105 | 20609 | 600859 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 77 | 20609 | 600859 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 105 | 20609 | 600859 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 77 | 20609 | 600859 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 254 | 572 | 607245 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 189 | 572 | 607245 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 254 | 572 | 607245 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 189 | 572 | 607245 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 59 | 697 | 607669 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 58 | 697 | 607669 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 59 | 697 | 607669 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 58 | 697 | 607669 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 432 | 29357 | 615115 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 411 | 29357 | 615115 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 432 | 29357 | 615115 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 411 | 29357 | 615115 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 264 | 25567 | 612316 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 250 | 25567 | 612316 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 264 | 25567 | 612316 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 250 | 25567 | 612316 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 93 | 851 | 607027 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 79 | 851 | 607027 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 93 | 851 | 607027 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 79 | 851 | 607027 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 193 | 13533 | 605870 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 126 | 13533 | 605870 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 193 | 13533 | 605870 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 126 | 13533 | 605870 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 410 | 1392 | 601013 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 643 | 1392 | 601013 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 410 | 1392 | 601013 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 643 | 1392 | 601013 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 374 | 1394 | 604065 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 357 | 1394 | 604065 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 374 | 1394 | 604065 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 357 | 1394 | 604065 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 62 | 1460 | 114078 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 56 | 1460 | 114078 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 62 | 1460 | 114078 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 56 | 1460 | 114078 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1399 | 11411 | 300203 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1270 | 11411 | 300203 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1399 | 11411 | 300203 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1270 | 11411 | 300203 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 373 | 1965 | 100720 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 331 | 1965 | 100720 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 373 | 1965 | 100720 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 331 | 1965 | 100720 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 93 | 2510 | 114025 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 90 | 2510 | 114025 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 93 | 2510 | 114025 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 90 | 2510 | 114025 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 110 | 29812 | 610534 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 107 | 29812 | 610534 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 110 | 29812 | 610534 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 107 | 29812 | 610534 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 58 | 16716 | 616423 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 49 | 16716 | 616423 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 58 | 16716 | 616423 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 49 | 16716 | 616423 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 173 | 15469 | 608375 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 215 | 15469 | 608375 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 173 | 15469 | 608375 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 215 | 15469 | 608375 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 506 | 2972 | 602377 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 459 | 2972 | 602377 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 506 | 2972 | 602377 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 459 | 2972 | 602377 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 196 | 3267 | 300161 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 196 | 3267 | 300161 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 163 | 3668 | 601513 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 127 | 3668 | 601513 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 163 | 3668 | 601513 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 127 | 3668 | 601513 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 231 | 26927 | 613622 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 210 | 26927 | 613622 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 231 | 26927 | 613622 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 210 | 26927 | 613622 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 557 | 4507 | 607340 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 504 | 4507 | 607340 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 557 | 4507 | 607340 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 504 | 4507 | 607340 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GEMIN4 CL E G H | 50628 | 617913 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | 617913 | CN889218 | OMIM | 1 | | 149 | 15717 | 606969 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GEMIN4 CL E G H | 50628 | 617913 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | 617913 | CN889218 | OMIM | 1 | | 142 | 15717 | 606969 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GEMIN4 CL E G H | 50628 | 617913 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | 617913 | CN889218 | OMIM | 1 | | 149 | 15717 | 606969 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GEMIN4 CL E G H | 50628 | 617913 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | 617913 | CN889218 | OMIM | 1 | | 142 | 15717 | 606969 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 234 | 22932 | 615320 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 203 | 22932 | 615320 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 234 | 22932 | 615320 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GMPPB CL E G H | 29925 | 615350 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14 | 615350 | C3809216 | OMIM | 1 | | 203 | 22932 | 615320 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 227 | 4446 | 603048 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 95 | 4446 | 603048 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 227 | 4446 | 603048 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GPAA1 CL E G H | 8733 | 617810 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15 | 617810 | C4540520 | OMIM | 1 | | 95 | 4446 | 603048 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GRIA4 CL E G H | 2893 | 617864 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES | 617864 | CN800195 | OMIM | 1 | | 51 | 4574 | 138246 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GRIA4 CL E G H | 2893 | 617864 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES | 617864 | CN800195 | OMIM | 1 | | 47 | 4574 | 138246 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GRIA4 CL E G H | 2893 | 617864 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES | 617864 | CN800195 | OMIM | 1 | | 51 | 4574 | 138246 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GRIA4 CL E G H | 2893 | 617864 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES | 617864 | CN800195 | OMIM | 1 | | 47 | 4574 | 138246 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 587 | 4584 | 138249 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 531 | 4584 | 138249 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 587 | 4584 | 138249 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GRIN1 CL E G H | 2902 | 614254 | Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | 614254 | C3280282 | OMIM | 1 | | 531 | 4584 | 138249 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 587 | 4584 | 138249 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 531 | 4584 | 138249 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 587 | 4584 | 138249 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GRIN1 CL E G H | 2902 | 617820 | NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | 617820 | CN737161 | OMIM | 1 | | 531 | 4584 | 138249 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 50 | 4670 | 607434 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 34 | 4670 | 607434 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 50 | 4670 | 607434 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | GTPBP2 CL E G H | 54676 | 617988 | JABERI-ELAHI SYNDROME | 617988 | CN244943 | OMIM | 1 | | 34 | 4670 | 607434 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1380 | 6296 | 602235 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1534 | 6296 | 602235 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1380 | 6296 | 602235 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | KCNQ2 CL E G H | 3785 | 439218 | | | | ORPHA | 1 | | 1534 | 6296 | 602235 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 79 | 26576 | 605739 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 78 | 26576 | 605739 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 79 | 26576 | 605739 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | KY CL E G H | 339855 | 617114 | Myopathy, myofibrillar, 7 | 617114 | C4310711 | OMIM | 1 | | 78 | 26576 | 605739 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 2327 | 6482 | 156225 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 2739 | 6482 | 156225 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 2327 | 6482 | 156225 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | LAMA2 CL E G H | 3908 | 258 | Schmitt Gillenwater Kelly syndrome | | | ORPHA | 1 | | 2739 | 6482 | 156225 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 41 | 21610 | 610236 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 39 | 21610 | 610236 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 41 | 21610 | 610236 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | LNPK CL E G H | 80856 | 618090 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM | 618090 | CN252703 | OMIM | 1 | | 39 | 21610 | 610236 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 580 | 6814 | 605283 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 557 | 6814 | 605283 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 580 | 6814 | 605283 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MAGEL2 CL E G H | 54551 | 615547 | Schaaf-yang syndrome | 615547 | C3809877 | OMIM | 1 | | 557 | 6814 | 605283 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MAST1 CL E G H | 22983 | 618273 | 618273 | 618273 | | OMIM | 1 | | 50 | 19034 | 612256 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MAST1 CL E G H | 22983 | 618273 | 618273 | 618273 | | OMIM | 1 | | 57 | 19034 | 612256 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MAST1 CL E G H | 22983 | 618273 | 618273 | 618273 | | OMIM | 1 | | 50 | 19034 | 612256 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MAST1 CL E G H | 22983 | 618273 | 618273 | 618273 | | OMIM | 1 | | 57 | 19034 | 612256 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 66 | 15505 | 606048 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 64 | 15505 | 606048 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 66 | 15505 | 606048 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MBOAT7 CL E G H | 79143 | 617188 | Mental retardation, autosomal recessive 57 | 617188 | C4310673 | OMIM | 1 | | 64 | 15505 | 606048 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MDH2 CL E G H | 4191 | 617339 | Epileptic encephalopathy, early infantile, 51 | 617339 | C4479208 | OMIM | 1 | | 169 | 6971 | 154100 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MDH2 CL E G H | 4191 | 617339 | Epileptic encephalopathy, early infantile, 51 | 617339 | C4479208 | OMIM | 1 | | 90 | 6971 | 154100 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MDH2 CL E G H | 4191 | 617339 | Epileptic encephalopathy, early infantile, 51 | 617339 | C4479208 | OMIM | 1 | | 169 | 6971 | 154100 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MDH2 CL E G H | 4191 | 617339 | Epileptic encephalopathy, early infantile, 51 | 617339 | C4479208 | OMIM | 1 | | 90 | 6971 | 154100 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MEF2C CL E G H | 4208 | 613443 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 613443 | C3150700 | OMIM | 1 | | 363 | 6996 | 600662 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MEF2C CL E G H | 4208 | 613443 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 613443 | C3150700 | OMIM | 1 | | 339 | 6996 | 600662 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MEF2C CL E G H | 4208 | 613443 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 613443 | C3150700 | OMIM | 1 | | 363 | 6996 | 600662 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MEF2C CL E G H | 4208 | 613443 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 613443 | C3150700 | OMIM | 1 | | 339 | 6996 | 600662 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 113 | 24858 | 614785 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 102 | 24858 | 614785 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 113 | 24858 | 614785 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MFF CL E G H | 56947 | 617086 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | 617086 | C4310726 | OMIM | 1 | | 102 | 24858 | 614785 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MFSD2A CL E G H | 84879 | 616486 | Primary autosomal recessive microcephaly 15 | 616486 | C4225310 | OMIM | 1 | | 58 | 25897 | 614397 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MFSD2A CL E G H | 84879 | 616486 | Primary autosomal recessive microcephaly 15 | 616486 | C4225310 | OMIM | 1 | | 45 | 25897 | 614397 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MFSD2A CL E G H | 84879 | 616486 | Primary autosomal recessive microcephaly 15 | 616486 | C4225310 | OMIM | 1 | | 58 | 25897 | 614397 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MFSD2A CL E G H | 84879 | 616486 | Primary autosomal recessive microcephaly 15 | 616486 | C4225310 | OMIM | 1 | | 45 | 25897 | 614397 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 522 | 7225 | 159440 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 493 | 7225 | 159440 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 522 | 7225 | 159440 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MPZ CL E G H | 4359 | 618184 | Congenital hypomyelinating neuropathy 2 | 618184 | | OMIM | 1 | | 493 | 7225 | 159440 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 69 | 16618 | 611994 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 63 | 16618 | 611994 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 69 | 16618 | 611994 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MRPS34 CL E G H | 65993 | 617664 | COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 32 | 617664 | C4540029 | OMIM | 1 | | 63 | 16618 | 611994 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 67 | 29678 | 617619 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 59 | 29678 | 617619 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 67 | 29678 | 617619 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MSTO1 CL E G H | 55154 | 617675 | MYOPATHY, MITOCHONDRIAL, AND ATAXIA | 617675 | C4540096 | OMIM | 1 | | 59 | 29678 | 617619 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 1 | | | 7479 | 590025 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MT-TE CL E G H | 4556 | 2596 | Hantavirosis | | | ORPHA | 1 | | | 7479 | 590025 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 246 | 12399 | 604103 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 267 | 12399 | 604103 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 246 | 12399 | 604103 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | MYOT CL E G H | 9499 | 266 | | | | ORPHA | 1 | | 267 | 12399 | 604103 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 5313 | 7720 | 161650 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 4674 | 7720 | 161650 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 5313 | 7720 | 161650 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | NEB CL E G H | 4703 | 256030 | Nemaline myopathy 2 | 256030 | C1850569 | OMIM | 1 | | 4674 | 7720 | 161650 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | NTRK2 CL E G H | 4915 | 617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 | 617830 | CN757795 | OMIM | 1 | | 202 | 8032 | 600456 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | NTRK2 CL E G H | 4915 | 617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 | 617830 | CN757795 | OMIM | 1 | | 116 | 8032 | 600456 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | NTRK2 CL E G H | 4915 | 617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 | 617830 | CN757795 | OMIM | 1 | | 202 | 8032 | 600456 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | NTRK2 CL E G H | 4915 | 617830 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58 | 617830 | CN757795 | OMIM | 1 | | 116 | 8032 | 600456 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | OTUD6B CL E G H | 51633 | 505237 | | | | ORPHA | 1 | | 56 | 24281 | 612021 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | OTUD6B CL E G H | 51633 | 505237 | | | | ORPHA | 1 | | 61 | 24281 | 612021 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | OTUD6B CL E G H | 51633 | 505237 | | | | ORPHA | 1 | | 56 | 24281 | 612021 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | OTUD6B CL E G H | 51633 | 505237 | | | | ORPHA | 1 | | 61 | 24281 | 612021 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | OTUD6B CL E G H | 51633 | 617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 617452 | C4479520 | OMIM | 1 | | 61 | 24281 | 612021 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | OTUD6B CL E G H | 51633 | 617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 617452 | C4479520 | OMIM | 1 | | 56 | 24281 | 612021 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | OTUD6B CL E G H | 51633 | 617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 617452 | C4479520 | OMIM | 1 | | 61 | 24281 | 612021 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | OTUD6B CL E G H | 51633 | 617452 | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | 617452 | C4479520 | OMIM | 1 | | 56 | 24281 | 612021 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 263 | 15894 | 606157 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 331 | 15894 | 606157 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 263 | 15894 | 606157 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PANK2 CL E G H | 80025 | 216866 | | | | ORPHA | 1 | | 331 | 15894 | 606157 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 87 | 23719 | 611801 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 80 | 23719 | 611801 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 87 | 23719 | 611801 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PGAP3 CL E G H | 93210 | 615716 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 | C3810354 | OMIM | 1 | | 80 | 23719 | 611801 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 1 | | 709 | 26270 | 613629 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 1 | | 672 | 26270 | 613629 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 1 | | 709 | 26270 | 613629 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PIEZO2 CL E G H | 63895 | 617146 | Arthrogryposis, distal, with impaired proprioception and touch | 617146 | C4310692 | OMIM | 1 | | 672 | 26270 | 613629 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PIGS CL E G H | 94005 | 618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 | 618143 | | OMIM | 1 | | 30 | 14937 | 610271 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PIGS CL E G H | 94005 | 618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 | 618143 | | OMIM | 1 | | 28 | 14937 | 610271 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PIGS CL E G H | 94005 | 618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 | 618143 | | OMIM | 1 | | 30 | 14937 | 610271 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PIGS CL E G H | 94005 | 618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 | 618143 | | OMIM | 1 | | 28 | 14937 | 610271 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 88 | 9171 | 602632 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 104 | 9171 | 602632 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 88 | 9171 | 602632 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PODXL CL E G H | 5420 | 391411 | | | | ORPHA | 1 | | 104 | 9171 | 602632 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 686 | 9202 | 607423 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 609 | 9202 | 607423 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 686 | 9202 | 607423 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | POMT1 CL E G H | 10585 | 613155 | Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1 | 613155 | C3150415 | OMIM | 1 | | 609 | 9202 | 607423 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PYCR2 CL E G H | 29920 | 616420 | Leukodystrophy, hypomyelinating, 10 | 616420 | C4225332 | OMIM | 1 | | 89 | 30262 | 616406 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | PYCR2 CL E G H | 29920 | 616420 | Leukodystrophy, hypomyelinating, 10 | 616420 | C4225332 | OMIM | 1 | | 77 | 30262 | 616406 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PYCR2 CL E G H | 29920 | 616420 | Leukodystrophy, hypomyelinating, 10 | 616420 | C4225332 | OMIM | 1 | | 89 | 30262 | 616406 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | PYCR2 CL E G H | 29920 | 616420 | Leukodystrophy, hypomyelinating, 10 | 616420 | C4225332 | OMIM | 1 | | 77 | 30262 | 616406 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 237 | 18756 | 607352 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 137 | 18756 | 607352 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 237 | 18756 | 607352 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | RHOBTB2 CL E G H | 23221 | 618004 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | 618004 | CN248512 | OMIM | 1 | | 137 | 18756 | 607352 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SCN3A CL E G H | 6328 | 617938 | Early infantile epileptic encephalopathy 62 | 617938 | CN244551 | OMIM | 1 | | 897 | 10590 | 182391 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SCN3A CL E G H | 6328 | 617938 | Early infantile epileptic encephalopathy 62 | 617938 | CN244551 | OMIM | 1 | | 742 | 10590 | 182391 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SCN3A CL E G H | 6328 | 617938 | Early infantile epileptic encephalopathy 62 | 617938 | CN244551 | OMIM | 1 | | 897 | 10590 | 182391 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SCN3A CL E G H | 6328 | 617938 | Early infantile epileptic encephalopathy 62 | 617938 | CN244551 | OMIM | 1 | | 742 | 10590 | 182391 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 283 | 21061 | 614725 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 249 | 21061 | 614725 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 283 | 21061 | 614725 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SERAC1 CL E G H | 84947 | 614739 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | 614739 | C3553597 | OMIM | 1 | | 249 | 21061 | 614725 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC12A5 CL E G H | 57468 | 616645 | Early infantile epileptic encephalopathy 34 | 616645 | C4225257 | OMIM | 1 | | 489 | 13818 | 606726 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC12A5 CL E G H | 57468 | 616645 | Early infantile epileptic encephalopathy 34 | 616645 | C4225257 | OMIM | 1 | | 398 | 13818 | 606726 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC12A5 CL E G H | 57468 | 616645 | Early infantile epileptic encephalopathy 34 | 616645 | C4225257 | OMIM | 1 | | 489 | 13818 | 606726 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC12A5 CL E G H | 57468 | 616645 | Early infantile epileptic encephalopathy 34 | 616645 | C4225257 | OMIM | 1 | | 398 | 13818 | 606726 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 1 | | 290 | 10923 | 300095 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 1 | | 318 | 10923 | 300095 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 1 | | 290 | 10923 | 300095 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC16A2 CL E G H | 6567 | 59 | | | | ORPHA | 1 | | 318 | 10923 | 300095 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 318 | 10923 | 300095 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 290 | 10923 | 300095 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 318 | 10923 | 300095 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC16A2 CL E G H | 6567 | 300523 | Allan-Herndon-Dudley syndrome | 300523 | C0795889 | OMIM | 1 | | 290 | 10923 | 300095 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 335 | 10933 | 604322 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 285 | 10933 | 604322 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 335 | 10933 | 604322 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC17A5 CL E G H | 26503 | 604369 | Salla disease | 604369 | C1096903 | OMIM | 1 | | 285 | 10933 | 604322 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 461 | 16266 | 606152 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 400 | 16266 | 606152 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 461 | 16266 | 606152 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC19A3 CL E G H | 80704 | 607483 | Basal ganglia disease, biotin-responsive | 607483 | C1843807 | OMIM | 1 | | 400 | 16266 | 606152 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC1A2 CL E G H | 6506 | 617105 | Epileptic encephalopathy, early infantile, 41 | 617105 | C4310717 | OMIM | 1 | | 133 | 10940 | 600300 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC1A2 CL E G H | 6506 | 617105 | Epileptic encephalopathy, early infantile, 41 | 617105 | C4310717 | OMIM | 1 | | 72 | 10940 | 600300 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC1A2 CL E G H | 6506 | 617105 | Epileptic encephalopathy, early infantile, 41 | 617105 | C4310717 | OMIM | 1 | | 133 | 10940 | 600300 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC1A2 CL E G H | 6506 | 617105 | Epileptic encephalopathy, early infantile, 41 | 617105 | C4310717 | OMIM | 1 | | 72 | 10940 | 600300 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC1A4 CL E G H | 6509 | 616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 616657 | C4225254 | OMIM | 1 | | 105 | 10942 | 600229 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC1A4 CL E G H | 6509 | 616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 616657 | C4225254 | OMIM | 1 | | 71 | 10942 | 600229 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC1A4 CL E G H | 6509 | 616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 616657 | C4225254 | OMIM | 1 | | 105 | 10942 | 600229 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC1A4 CL E G H | 6509 | 616657 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 616657 | C4225254 | OMIM | 1 | | 71 | 10942 | 600229 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 261 | 10990 | 103220 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 254 | 10990 | 103220 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 261 | 10990 | 103220 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC25A4 CL E G H | 291 | 617184 | Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant | 617184 | C4310676 | OMIM | 1 | | 254 | 10990 | 103220 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC2A1 CL E G H | 6513 | 608885 | Stomatin-deficient cryohydrocytosis with neurologic defects | 608885 | C1837206 | OMIM | 1 | | 753 | 11005 | 138140 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC2A1 CL E G H | 6513 | 608885 | Stomatin-deficient cryohydrocytosis with neurologic defects | 608885 | C1837206 | OMIM | 1 | | 672 | 11005 | 138140 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC2A1 CL E G H | 6513 | 608885 | Stomatin-deficient cryohydrocytosis with neurologic defects | 608885 | C1837206 | OMIM | 1 | | 753 | 11005 | 138140 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC2A1 CL E G H | 6513 | 608885 | Stomatin-deficient cryohydrocytosis with neurologic defects | 608885 | C1837206 | OMIM | 1 | | 672 | 11005 | 138140 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC39A8 CL E G H | 64116 | 616721 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn | 616721 | C4225234 | OMIM | 1 | | 99 | 20862 | 608732 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC39A8 CL E G H | 64116 | 616721 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn | 616721 | C4225234 | OMIM | 1 | | 93 | 20862 | 608732 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC39A8 CL E G H | 64116 | 616721 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn | 616721 | C4225234 | OMIM | 1 | | 99 | 20862 | 608732 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC39A8 CL E G H | 64116 | 616721 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn | 616721 | C4225234 | OMIM | 1 | | 93 | 20862 | 608732 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC6A17 CL E G H | 388662 | 616269 | Mental retardation, autosomal recessive 48 | 616269 | C4225395 | OMIM | 1 | | 56 | 31399 | 610299 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SLC6A17 CL E G H | 388662 | 616269 | Mental retardation, autosomal recessive 48 | 616269 | C4225395 | OMIM | 1 | | 48 | 31399 | 610299 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC6A17 CL E G H | 388662 | 616269 | Mental retardation, autosomal recessive 48 | 616269 | C4225395 | OMIM | 1 | | 56 | 31399 | 610299 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SLC6A17 CL E G H | 388662 | 616269 | Mental retardation, autosomal recessive 48 | 616269 | C4225395 | OMIM | 1 | | 48 | 31399 | 610299 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SNX14 CL E G H | 57231 | 616354 | Spinocerebellar ataxia, autosomal recessive 20 | 616354 | C4225355 | OMIM | 1 | | 151 | 14977 | 616105 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SNX14 CL E G H | 57231 | 616354 | Spinocerebellar ataxia, autosomal recessive 20 | 616354 | C4225355 | OMIM | 1 | | 146 | 14977 | 616105 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SNX14 CL E G H | 57231 | 616354 | Spinocerebellar ataxia, autosomal recessive 20 | 616354 | C4225355 | OMIM | 1 | | 151 | 14977 | 616105 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SNX14 CL E G H | 57231 | 616354 | Spinocerebellar ataxia, autosomal recessive 20 | 616354 | C4225355 | OMIM | 1 | | 146 | 14977 | 616105 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ST3GAL3 CL E G H | 6487 | 615006 | Early infantile epileptic encephalopathy 15 | 615006 | C3554316 | OMIM | 1 | | 229 | 10866 | 606494 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | ST3GAL3 CL E G H | 6487 | 615006 | Early infantile epileptic encephalopathy 15 | 615006 | C3554316 | OMIM | 1 | | 181 | 10866 | 606494 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ST3GAL3 CL E G H | 6487 | 615006 | Early infantile epileptic encephalopathy 15 | 615006 | C3554316 | OMIM | 1 | | 229 | 10866 | 606494 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | ST3GAL3 CL E G H | 6487 | 615006 | Early infantile epileptic encephalopathy 15 | 615006 | C3554316 | OMIM | 1 | | 181 | 10866 | 606494 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | STRADA CL E G H | 92335 | 611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | 611087 | C1970203 | OMIM | 1 | | 235 | 30172 | 608626 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | STRADA CL E G H | 92335 | 611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | 611087 | C1970203 | OMIM | 1 | | 190 | 30172 | 608626 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | STRADA CL E G H | 92335 | 611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | 611087 | C1970203 | OMIM | 1 | | 235 | 30172 | 608626 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | STRADA CL E G H | 92335 | 611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | 611087 | C1970203 | OMIM | 1 | | 190 | 30172 | 608626 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 730 | 11503 | 604297 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 909 | 11503 | 604297 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 730 | 11503 | 604297 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SYNJ1 CL E G H | 8867 | 391411 | | | | ORPHA | 1 | | 909 | 11503 | 604297 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 44 | 11509 | 185605 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 39 | 11509 | 185605 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 44 | 11509 | 185605 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | SYT1 CL E G H | 6857 | 618218 | BAKER-GORDON SYNDROME | 618218 | | OMIM | 1 | | 39 | 11509 | 185605 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 49 | 25622 | 617687 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 46 | 25622 | 617687 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 49 | 25622 | 617687 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TBC1D23 CL E G H | 55773 | 617695 | PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | 617695 | C4540164 | OMIM | 1 | | 46 | 25622 | 617687 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TFG CL E G H | 10342 | 431329 | | | | ORPHA | 1 | | 237 | 11758 | 602498 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TFG CL E G H | 10342 | 431329 | | | | ORPHA | 1 | | 263 | 11758 | 602498 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TFG CL E G H | 10342 | 431329 | | | | ORPHA | 1 | | 237 | 11758 | 602498 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TFG CL E G H | 10342 | 431329 | | | | ORPHA | 1 | | 263 | 11758 | 602498 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 263 | 11758 | 602498 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 237 | 11758 | 602498 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 263 | 11758 | 602498 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TFG CL E G H | 10342 | 615658 | Spastic paraplegia 57, autosomal recessive | 615658 | C3714897 | OMIM | 1 | | 237 | 11758 | 602498 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TMEM107 CL E G H | 84314 | 617563 | OROFACIODIGITAL SYNDROME XVI | 617563 | C4539729 | OMIM | 1 | | 161 | 28128 | 616183 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TMEM107 CL E G H | 84314 | 617563 | OROFACIODIGITAL SYNDROME XVI | 617563 | C4539729 | OMIM | 1 | | 101 | 28128 | 616183 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TMEM107 CL E G H | 84314 | 617563 | OROFACIODIGITAL SYNDROME XVI | 617563 | C4539729 | OMIM | 1 | | 161 | 28128 | 616183 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TMEM107 CL E G H | 84314 | 617563 | OROFACIODIGITAL SYNDROME XVI | 617563 | C4539729 | OMIM | 1 | | 101 | 28128 | 616183 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 673 | 25751 | 614138 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 573 | 25751 | 614138 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 673 | 25751 | 614138 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TRAPPC11 CL E G H | 60684 | 615356 | Limb-girdle muscular dystrophy, type 2S | 615356 | C3809236 | OMIM | 1 | | 573 | 25751 | 614138 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TRIM2 CL E G H | 23321 | 615490 | Charcot-Marie-Tooth disease, axonal, type 2R | 615490 | C3809655 | OMIM | 1 | | 298 | 15974 | 614141 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TRIM2 CL E G H | 23321 | 615490 | Charcot-Marie-Tooth disease, axonal, type 2R | 615490 | C3809655 | OMIM | 1 | | 263 | 15974 | 614141 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TRIM2 CL E G H | 23321 | 615490 | Charcot-Marie-Tooth disease, axonal, type 2R | 615490 | C3809655 | OMIM | 1 | | 298 | 15974 | 614141 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TRIM2 CL E G H | 23321 | 615490 | Charcot-Marie-Tooth disease, axonal, type 2R | 615490 | C3809655 | OMIM | 1 | | 263 | 15974 | 614141 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 1 | | 205 | 20772 | 602661 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 1 | | 217 | 20772 | 602661 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 1 | | 205 | 20772 | 602661 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | TUBB3 CL E G H | 10381 | 300570 | | | | ORPHA | 1 | | 217 | 20772 | 602661 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 1 | | 765 | 26582 | 612636 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 1 | | 263 | 26582 | 612636 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 1 | | 765 | 26582 | 612636 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | UNC80 CL E G H | 285175 | 616801 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | 616801 | C4225203 | OMIM | 1 | | 263 | 26582 | 612636 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | UQCRQ CL E G H | 27089 | 615159 | Mitochondrial complex III deficiency, nuclear type 4 | 615159 | C3554607 | OMIM | 1 | | 90 | 29594 | 612080 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | UQCRQ CL E G H | 27089 | 615159 | Mitochondrial complex III deficiency, nuclear type 4 | 615159 | C3554607 | OMIM | 1 | | 89 | 29594 | 612080 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | UQCRQ CL E G H | 27089 | 615159 | Mitochondrial complex III deficiency, nuclear type 4 | 615159 | C3554607 | OMIM | 1 | | 90 | 29594 | 612080 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | UQCRQ CL E G H | 27089 | 615159 | Mitochondrial complex III deficiency, nuclear type 4 | 615159 | C3554607 | OMIM | 1 | | 89 | 29594 | 612080 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | WDR45B CL E G H | 56270 | 617977 | NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES | 617977 | CN244929 | OMIM | 1 | | 56 | 25072 | 609226 |
HP:0002540 | HP:0006915 | Inability to walk by childhood/adolescence | 1 | WDR45B CL E G H | 56270 | 617977 | NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES | 617977 | CN244929 | OMIM | 1 | | 54 | 25072 | 609226 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | WDR45B CL E G H | 56270 | 617977 | NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES | 617977 | CN244929 | OMIM | 1 | | 56 | 25072 | 609226 |
HP:0002540 | HP:0002505 | Progressive inability to walk | 1 | WDR45B CL E G H | 56270 | 617977 | NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA AND BRAIN ABNORMALITIES WITH OR WITHOUT SEIZURES | 617977 | CN244929 | OMIM | 1 | | 54 | 25072 | 609226 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 582 | 291 | 608222 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ADSL CL E G H | 158 | 103050 | Adenylosuccinate lyase deficiency | 103050 | C0268126 | OMIM | 1 | | 368 | 291 | 608222 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 64 | 17258 | 606830 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 64 | 17258 | 606830 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | AGTPBP1 CL E G H | 23287 | 618276 | 618276 | 618276 | | OMIM | 1 | | 64 | 17258 | 606830 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 105 | 20609 | 600859 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 105 | 20609 | 600859 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 77 | 20609 | 600859 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 77 | 20609 | 600859 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 105 | 20609 | 600859 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | AIMP2 CL E G H | 7965 | 618006 | LEUKODYSTROPHY, HYPOMYELINATING, 17 | 618006 | CN248514 | OMIM | 1 | | 77 | 20609 | 600859 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 254 | 572 | 607245 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 254 | 572 | 607245 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 189 | 572 | 607245 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 189 | 572 | 607245 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 254 | 572 | 607245 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | AP4B1 CL E G H | 10717 | 614066 | Spastic paraplegia 47, autosomal recessive | 614066 | C3279738 | OMIM | 1 | | 189 | 572 | 607245 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 59 | 697 | 607669 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 59 | 697 | 607669 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 58 | 697 | 607669 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 58 | 697 | 607669 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 59 | 697 | 607669 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ARL6IP1 CL E G H | 23204 | 615685 | Spastic paraplegia 61, autosomal recessive | 615685 | C3810294 | OMIM | 1 | | 58 | 697 | 607669 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 432 | 29357 | 615115 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 432 | 29357 | 615115 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 411 | 29357 | 615115 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 411 | 29357 | 615115 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 432 | 29357 | 615115 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ASXL3 CL E G H | 80816 | 615485 | Bainbridge-Ropers syndrome | 615485 | C3809650 | OMIM | 1 | | 411 | 29357 | 615115 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 264 | 25567 | 612316 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 250 | 25567 | 612316 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 264 | 25567 | 612316 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 264 | 25567 | 612316 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 250 | 25567 | 612316 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ATAD3A CL E G H | 55210 | 617183 | Harel-Yoon syndrome | 617183 | C4310677 | OMIM | 1 | | 250 | 25567 | 612316 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 93 | 851 | 607027 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 93 | 851 | 607027 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 79 | 851 | 607027 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 79 | 851 | 607027 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 93 | 851 | 607027 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ATP6V1A CL E G H | 523 | 618012 | EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3 | 618012 | CN248521 | OMIM | 1 | | 79 | 851 | 607027 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 193 | 13533 | 605870 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 193 | 13533 | 605870 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 126 | 13533 | 605870 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 126 | 13533 | 605870 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 193 | 13533 | 605870 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | ATP8A2 CL E G H | 51761 | 615268 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 | 615268 | C3808977 | OMIM | 1 | | 126 | 13533 | 605870 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 410 | 1392 | 601013 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 410 | 1392 | 601013 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 643 | 1392 | 601013 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 410 | 1392 | 601013 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 643 | 1392 | 601013 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CACNA1E CL E G H | 777 | 618285 | 618285 | 618285 | | OMIM | 1 | | 643 | 1392 | 601013 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 374 | 1394 | 604065 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 374 | 1394 | 604065 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 357 | 1394 | 604065 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 357 | 1394 | 604065 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 374 | 1394 | 604065 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CACNA1G CL E G H | 8913 | 618087 | SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | 618087 | CN252698 | OMIM | 1 | | 357 | 1394 | 604065 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 62 | 1460 | 114078 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 62 | 1460 | 114078 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 56 | 1460 | 114078 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 56 | 1460 | 114078 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 62 | 1460 | 114078 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CAMK2A CL E G H | 815 | 618095 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63 | 618095 | CN253430 | OMIM | 1 | | 56 | 1460 | 114078 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 169 | 1461 | 607707 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CAMK2B CL E G H | 816 | 617799 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 | 617799 | C4540484 | OMIM | 1 | | 88 | 1461 | 607707 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1399 | 11411 | 300203 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1399 | 11411 | 300203 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1270 | 11411 | 300203 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1270 | 11411 | 300203 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1399 | 11411 | 300203 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CDKL5 CL E G H | 6792 | 300672 | Early infantile epileptic encephalopathy 2 | 300672 | C1839333 | OMIM | 1 | | 1270 | 11411 | 300203 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 373 | 1965 | 100720 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 373 | 1965 | 100720 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 331 | 1965 | 100720 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 331 | 1965 | 100720 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 373 | 1965 | 100720 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CHRND CL E G H | 1144 | 616321 | Myasthenic syndrome, congenital, 3a, slow-channel | 616321 | C4225372 | OMIM | 1 | | 331 | 1965 | 100720 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 163 | 2309 | 605032 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CPLX1 CL E G H | 10815 | 617976 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 63 | 617976 | CN244926 | OMIM | 1 | | 151 | 2309 | 605032 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 187 | 2494 | 602618 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CTBP1 CL E G H | 1487 | 617915 | HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME | 617915 | CN895589 | OMIM | 1 | | 174 | 2494 | 602618 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 93 | 2510 | 114025 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 93 | 2510 | 114025 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 90 | 2510 | 114025 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 90 | 2510 | 114025 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 93 | 2510 | 114025 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | CTNNA2 CL E G H | 1496 | 618174 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 | 618174 | | OMIM | 1 | | 90 | 2510 | 114025 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 110 | 29812 | 610534 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 110 | 29812 | 610534 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 107 | 29812 | 610534 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 107 | 29812 | 610534 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 110 | 29812 | 610534 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | DCPS CL E G H | 28960 | 616459 | AL-RAQAD SYNDROME | 616459 | C4085595 | OMIM | 1 | | 107 | 29812 | 610534 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 58 | 16716 | 616423 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 49 | 16716 | 616423 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 58 | 16716 | 616423 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 58 | 16716 | 616423 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 49 | 16716 | 616423 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | DHX30 CL E G H | 22907 | 617804 | NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE | 617804 | C4540496 | OMIM | 1 | | 49 | 16716 | 616423 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 173 | 15469 | 608375 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 173 | 15469 | 608375 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 215 | 15469 | 608375 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 173 | 15469 | 608375 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 215 | 15469 | 608375 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | DNAJC6 CL E G H | 9829 | 391411 | | | | ORPHA | 1 | | 215 | 15469 | 608375 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 506 | 2972 | 602377 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 506 | 2972 | 602377 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 459 | 2972 | 602377 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 459 | 2972 | 602377 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 506 | 2972 | 602377 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | DNM1 CL E G H | 1759 | 616346 | Epileptic encephalopathy, early infantile, 31 | 616346 | C4225357 | OMIM | 1 | | 459 | 2972 | 602377 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 196 | 3267 | 300161 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 196 | 3267 | 300161 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 196 | 3267 | 300161 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | EIF2S3 CL E G H | 1968 | 300148 | MEHMO syndrome | 300148 | C1846278 | OMIM | 1 | | 190 | 3267 | 300161 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | EPRS CL E G H | 2058 | 617951 | LEUKODYSTROPHY, HYPOMYELINATING, 15 | 617951 | CN244566 | OMIM | 1 | | | 3418 | 138295 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 163 | 3668 | 601513 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 127 | 3668 | 601513 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 163 | 3668 | 601513 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 163 | 3668 | 601513 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 127 | 3668 | 601513 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | FGF12 CL E G H | 2257 | 617166 | Epileptic encephalopathy, early infantile, 47 | 617166 | C4310685 | OMIM | 1 | | 127 | 3668 | 601513 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 210 | 26927 | 613622 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 231 | 26927 | 613622 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 231 | 26927 | 613622 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 210 | 26927 | 613622 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 210 | 26927 | 613622 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | FOXRED1 CL E G H | 55572 | 618241 | MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 | 618241 | | OMIM | 1 | | 231 | 26927 | 613622 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 557 | 4507 | 607340 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 504 | 4507 | 607340 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 557 | 4507 | 607340 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 557 | 4507 | 607340 |
HP:0002540 | HP:0006957 | Loss of ability to walk | 2 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 504 | 4507 | 607340 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | GABBR2 CL E G H | 9568 | 617904 | Early infantile epileptic encephalopathy 59 | 617904 | CN870853 | OMIM | 1 | | 504 | 4507 | 607340 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | GEMIN4 CL E G H | 50628 | 617913 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | 617913 | CN889218 | OMIM | 1 | | 149 | 15717 | 606969 |
HP:0002540 | HP:0008945 | Loss of ability to walk in early childhood | 2 | GEMIN4 CL E G H | 50628 | 617913 | NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES | 617913 | CN889218 | OMIM | 1 | | 142 | 15717 | 606969 |
HP:0002540 | HP:0006794 | Loss of ability to walk in first decade | 2 | GEMIN4 CL E |