Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | AASS CL E G H | 10157 | 17366 | ORPHA:2203 | Hyperlysinemia | HP:0040283 - Occasional | | | 15 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 530 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | BMPR1B CL E G H | 658 | 1077 | OMIM:616849 | BRACHYDACTYLY, TYPE A1, D; BDA1D | | | | 90 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | BSCL2 CL E G H | 26580 | 15832 | ORPHA:363400 | Severe neurodegenerative syndrome with lipodystrophy | HP:0040282 - Frequent | | | 105 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | | | | 114 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | . | | | 34 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | | | | 141 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | | | | 60 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | | | | 36 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | DCX CL E G H | 1641 | 2714 | ORPHA:2148 | Lissencephaly type 1 due to doublecortin gene mutation | | | | 145 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | 1 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | | | | 1 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | | | | 2 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | | | | 143 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | | | | 18 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | | | | 134 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | GABRD CL E G H | 2563 | 4084 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 10 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | | | | 139 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 139 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | GCDH CL E G H | 2639 | 4189 | ORPHA:25 | Glutaryl-CoA dehydrogenase deficiency | HP:0040282 - Frequent | | | 115 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | GNB5 CL E G H | 10681 | 4401 | ORPHA:542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome | | | | 7 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | GNB5 CL E G H | 10681 | 4401 | OMIM:617182 | Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | | | | 7 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | HCN1 CL E G H | 348980 | 4845 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 54 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | | | | 12 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:439218 | KCNQ2-related epileptic encephalopathy | | | | 528 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | 1 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | 1 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | | | | 1 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | | | | 203 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | | | | 101 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | | | | 225 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | | | | 98 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | | | | 77 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | PMPCA CL E G H | 23203 | 18667 | ORPHA:1170 | Autosomal recessive cerebelloparenchymal disorder type 3 | HP:0040282 - Frequent | | | 7 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | | | | 5 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | | | | 69 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | | | | 9 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | | | | 150 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | | | | 2 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | | | | 1053 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SCN1A CL E G H | 6323 | 10585 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 1053 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | | | | 126 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SCN1B CL E G H | 6324 | 10586 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 126 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | | | | 427 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SCN2A CL E G H | 6326 | 10588 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 427 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | | | | 318 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SCN9A CL E G H | 6335 | 10597 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 318 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SIN3A CL E G H | 25942 | 19353 | OMIM:613406 | Witteveen-Kolk syndrome | | | | 9 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | | | | 1 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | | | | 42 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | | | | 42 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | STX1B CL E G H | 112755 | 18539 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | | | | 9 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | | | | 63 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | VPS13A CL E G H | 23230 | 1908 | ORPHA:2388 | Choreoacanthocytosis | HP:0040282 - Frequent | | | 130 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0002275 | HP:0002275 | Poor motor coordination | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | ADGRV1 CL E G H | 84059 | 17416 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 530 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | C19ORF12 CL E G H | 83636 | 25443 | ORPHA:320370 | Autosomal recessive spastic paraplegia type 43 | HP:0040281 - Very frequent | | | 114 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | CLN5 CL E G H | 1203 | 2076 | ORPHA:228360 | CLN5 disease | HP:0040282 - Frequent | | | 141 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | DARS2 CL E G H | 55157 | 25538 | ORPHA:137898 | Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | DCC CL E G H | 1630 | 2701 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | 36 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | DCX CL E G H | 1641 | 2714 | ORPHA:2148 | Lissencephaly type 1 due to doublecortin gene mutation | HP:0040282 - Frequent | | | 145 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | DLK1 CL E G H | 8788 | 2907 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | DMPK CL E G H | 1760 | 2933 | ORPHA:589821 | Congenital-onset Steinert myotonic dystrophy | | | | 152 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | DNAL4 CL E G H | 10126 | 2955 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | 2 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 157 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | FMR1 CL E G H | 2332 | 3775 | OMIM:300623 | Fragile X tremor/ataxia syndrome | | | | 30 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | HP:0040283 - Occasional | | | 143 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | FOXP2 CL E G H | 93986 | 13875 | ORPHA:209908 | Childhood apraxia of speech | HP:0040282 - Frequent | | | 143 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | FXN CL E G H | 2395 | 3951 | ORPHA:95 | Friedreich ataxia | HP:0040282 - Frequent | | | 18 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | GABRA1 CL E G H | 2554 | 4075 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 134 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | GABRD CL E G H | 2563 | 4084 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 10 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 139 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | GABRG2 CL E G H | 2566 | 4087 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 139 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | GDAP1 CL E G H | 54332 | 15968 | ORPHA:99948 | Charcot-Marie-Tooth disease type 4A | | | | 108 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 34 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | GNB5 CL E G H | 10681 | 4401 | ORPHA:542306 | GNB5-related intellectual disability-cardiac arrhythmia syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | GNB5 CL E G H | 10681 | 4401 | OMIM:617182 | Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia | HP:0040284 - Very rare | | | 7 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | GNE CL E G H | 10020 | 23657 | OMIM:269921 | SIALURIA | | | | 173 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | HCN1 CL E G H | 348980 | 4845 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 54 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | | | | 38 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | HERC2 CL E G H | 8924 | 4868 | OMIM:176270 | Prader-Willi syndrome | . | | | 38 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | HTT CL E G H | 3064 | 4851 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 12 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | IPW CL E G H | 3653 | 6109 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | KCNQ2 CL E G H | 3785 | 6296 | ORPHA:439218 | KCNQ2-related epileptic encephalopathy | HP:0040282 - Frequent | | | 528 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 136 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | . | | | 63 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | MAGEL2 CL E G H | 54551 | 6814 | OMIM:176270 | Prader-Willi syndrome | | | | 63 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | 1 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | 1 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | MEG3 CL E G H | 55384 | 14575 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | 1 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | MFN2 CL E G H | 9927 | 16877 | ORPHA:99947 | Autosomal dominant Charcot-Marie-Tooth disease type 2A2 | HP:0040282 - Frequent | | | 203 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | . | | | 5 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | MKRN3 CL E G H | 7681 | 7114 | OMIM:176270 | Prader-Willi syndrome | | | | 5 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | MKRN3-AS1 CL E G H | 10108 | | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040283 - Occasional | | | 101 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | MTRFR CL E G H | 91574 | 26784 | ORPHA:320375 | Autosomal recessive spastic paraplegia type 55 | HP:0040282 - Frequent | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | | | | 1 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | NPAP1 CL E G H | 23742 | 1190 | OMIM:176270 | Prader-Willi syndrome | . | | | 1 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | NTN1 CL E G H | 9423 | 8029 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | PCDH19 CL E G H | 57526 | 14270 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 225 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | PDHX CL E G H | 8050 | 21350 | OMIM:245349 | Pyruvate dehydrogenase e3-binding protein deficiency | . | | | 98 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:617146 | Arthrogryposis, distal, with impaired proprioception and touch | . | | | 77 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 213 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040282 - Frequent | | | 221 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | PPP2R2B CL E G H | 5521 | 9305 | ORPHA:98762 | Spinocerebellar ataxia type 12 | HP:0040283 - Occasional | | | 5 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | PRNP CL E G H | 5621 | 9449 | ORPHA:157941 | Huntington disease-like 1 | HP:0040283 - Occasional | | | 69 | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | PWAR1 CL E G H | 145624 | 30089 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | PWRN1 CL E G H | 791114 | 33235 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | RAD51 CL E G H | 5888 | 9817 | ORPHA:238722 | Familial congenital mirror movements | HP:0040282 - Frequent | | | 9 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | RAI1 CL E G H | 10743 | 9834 | ORPHA:1713 | 17p11.2 microduplication syndrome | HP:0040282 - Frequent | | | 150 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | RDH11 CL E G H | 51109 | 17964 | ORPHA:436245 | Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | RNU12 CL E G H | 267010 | 19380 | ORPHA:512260 | Congenital cerebellar ataxia due to RNU12 mutation | HP:0040282 - Frequent | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:96184 | Temple syndrome due to maternal uniparental disomy of chromosome 14 | HP:0040283 - Occasional | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254531 | Temple syndrome due to paternal 14q32.2 hypomethylation | HP:0040283 - Occasional | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | RTL1 CL E G H | 388015 | 14665 | ORPHA:254525 | Temple syndrome due to paternal 14q32.2 microdeletion | HP:0040283 - Occasional | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SBF2 CL E G H | 81846 | 2135 | ORPHA:99956 | Charcot-Marie-Tooth disease type 4B2 | | | | 180 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 1053 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SCN1A CL E G H | 6323 | 10585 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 1053 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 126 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SCN1B CL E G H | 6324 | 10586 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 126 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 427 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SCN2A CL E G H | 6326 | 10588 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 427 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:33069 | Dravet syndrome | HP:0040283 - Occasional | | | 318 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SCN9A CL E G H | 6335 | 10597 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 318 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SLC2A3 CL E G H | 6515 | 11007 | ORPHA:399 | Huntington disease | HP:0040282 - Frequent | | | 1 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SLC30A10 CL E G H | 55532 | 25355 | ORPHA:309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | HP:0040283 - Occasional | | | 42 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SLC30A10 CL E G H | 55532 | 25355 | OMIM:613280 | Hypermanganesemia with dystonia 1 | . | | | 42 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | SNORD115-1 CL E G H | 338433 | 33020 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0002275 | HP:0007015 | Poor gross motor coordination | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | . | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | SNORD116-1 CL E G H | 100033413 | 33067 | OMIM:176270 | Prader-Willi syndrome | | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | STX1B CL E G H | 112755 | 18539 | ORPHA:36387 | Generalized epilepsy with febrile seizures-plus | HP:0040283 - Occasional | | | 9 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | VCP CL E G H | 7415 | 12666 | ORPHA:435387 | Autosomal dominant Charcot-Marie-Tooth disease type 2Y | HP:0040282 - Frequent | | | 63 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040282 - Frequent | | | 362 | | |
HP:0002275 | HP:0007010 | Poor fine motor coordination | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040282 - Frequent | | | 362 | | |