Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental abnormality (HP:0012759)help
Parent Node:
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Neurodevelopmental delay (HP:0012758)help
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Motor delay (HP:0001270)help
Term ID: 1270
Name: Motor delay
Synonym: Delay in motor development; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; No development of motor milestones; Retarded motor development
Definition: A type of Developmental delay characterized by a delay in acquiring motor skills.
Comments:
Reference: HP:0001270
Genes and Diseases:
 
       Child Nodes:
........expandDelayed gross motor development (HP:0002194) help
................... HP:0025335 Delayed ability to stand
................... HP:0025336 Delayed ability to sit
........expandDelayed fine motor development (HP:0010862) help

 Sister Nodes: 
..expandDelayed social development (HP:0012434) help
..expandDelayed speech and language development (HP:0000750) help
..expandGlobal developmental delay (HP:0001263) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001270HP:0001270Motor delay0ABCC8 CL E G H683399885ORPHA166160259600509
HP:0001270HP:0001270Motor delay0ABCC8 CL E G H683399886ORPHA166160259600509
HP:0001270HP:0001270Motor delay0ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM166160259600509
HP:0001270HP:0001270Motor delay0ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM11522991600301
HP:0001270HP:0001270Motor delay0ACTA1 CL E G H58171439ORPHA1217272129102610
HP:0001270HP:0001270Motor delay0ACTA1 CL E G H582020ORPHA1217272129102610
HP:0001270HP:0001270Motor delay0ACTA1 CL E G H58171433ORPHA1217272129102610
HP:0001270HP:0001270Motor delay0ACTA1 CL E G H58171430ORPHA1217272129102610
HP:0001270HP:0001270Motor delay0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217272129102610
HP:0001270HP:0001270Motor delay0ADA2 CL E G H51816820ORPHA1552161839607575
HP:0001270HP:0001270Motor delay0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM112577218604539
HP:0001270HP:0001270Motor delay0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0001270HP:0001270Motor delay0AGTPBP1 CL E G H23287618276618276618276OMIM115217258606830
HP:0001270HP:0001270Motor delay0AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM11594343180960
HP:0001270HP:0001270Motor delay0ALDH18A1 CL E G H5832447760ORPHA1332529722138250
HP:0001270HP:0001270Motor delay0ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175334408610045
HP:0001270HP:0001270Motor delay0ALG14 CL E G H199857353327ORPHA165228287612866
HP:0001270HP:0001270Motor delay0ALG2 CL E G H85365353327ORPHA1515323159607905
HP:0001270HP:0001270Motor delay0ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173347443606352
HP:0001270HP:0001270Motor delay0AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0001270HP:0001270Motor delay0APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0001270HP:0001270Motor delay0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0001270HP:0001270Motor delay0ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0001270HP:0001270Motor delay0ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1231682607560
HP:0001270HP:0001270Motor delay0ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0001270HP:0001270Motor delay0ASAH1 CL E G H427228000Farber disease228000C0268255OMIM171306735613468
HP:0001270HP:0001270Motor delay0ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM121379019048605481
HP:0001270HP:0001270Motor delay0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM18522011231606439
HP:0001270HP:0001270Motor delay0ATP1A3 CL E G H47871517ORPHA1122407801182350
HP:0001270HP:0001270Motor delay0ATP2B3 CL E G H492314978ORPHA17275816300014
HP:0001270HP:0001270Motor delay0ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM17275816300014
HP:0001270HP:0001270Motor delay0ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM1622618305300556
HP:0001270HP:0001270Motor delay0ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0001270HP:0001270Motor delay0ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0001270HP:0001270Motor delay0ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0001270HP:0001270Motor delay0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0001270HP:0001270Motor delay0ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0001270HP:0001270Motor delay0ATXN7 CL E G H631494147ORPHA163110560607640
HP:0001270HP:0001270Motor delay0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM112128890600529
HP:0001270HP:0001270Motor delay0BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001270HP:0001270Motor delay0BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0001270HP:0001270Motor delay0BICD2 CL E G H23299618291618291618291OMIM13532317208609797
HP:0001270HP:0001270Motor delay0BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM13532317208609797
HP:0001270HP:0001270Motor delay0BIN1 CL E G H274169186ORPHA1173151052601248
HP:0001270HP:0001270Motor delay0BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1173151052601248
HP:0001270HP:0001270Motor delay0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM12411416512606412
HP:0001270HP:0001270Motor delay0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0001270HP:0001270Motor delay0CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0001270HP:0001270Motor delay0CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM1272821938612395
HP:0001270HP:0001270Motor delay0CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1362361955100690
HP:0001270HP:0001270Motor delay0CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11383871966100725
HP:0001270HP:0001270Motor delay0CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0001270HP:0001270Motor delay0CHST3 CL E G H9469263463ORPHA1392651971603799
HP:0001270HP:0001270Motor delay0CIB2 CL E G H10518614869Usher syndrome, type 1J614869C3553944OMIM1186524579605564
HP:0001270HP:0001270Motor delay0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM161052026602024
HP:0001270HP:0001270Motor delay0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM11521662027602023
HP:0001270HP:0001270Motor delay0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0001270HP:0001270Motor delay0COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM1614118620606976
HP:0001270HP:0001270Motor delay0COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM1158062188120320
HP:0001270HP:0001270Motor delay0COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0001270HP:0001270Motor delay0COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113710072211120220
HP:0001270HP:0001270Motor delay0COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113710072211120220
HP:0001270HP:0001270Motor delay0COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119111482212120240
HP:0001270HP:0001270Motor delay0COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119111482212120240
HP:0001270HP:0001270Motor delay0COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM114316342213120250
HP:0001270HP:0001270Motor delay0COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114316342213120250
HP:0001270HP:0001270Motor delay0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0001270HP:0001270Motor delay0COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15492244601683
HP:0001270HP:0001270Motor delay0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0001270HP:0001270Motor delay0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001270HP:0001270Motor delay0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0001270HP:0001270Motor delay0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0001270HP:0001270Motor delay0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0001270HP:0001270Motor delay0CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12512342600184
HP:0001270HP:0001270Motor delay0CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM111642494602618
HP:0001270HP:0001270Motor delay0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM112472498604927
HP:0001270HP:0001270Motor delay0CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM182932606609506
HP:0001270HP:0001270Motor delay0CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM1198520582610670
HP:0001270HP:0001270Motor delay0DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM1182678603084
HP:0001270HP:0001270Motor delay0DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16516325538610956
HP:0001270HP:0001270Motor delay0DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM11423302714300121
HP:0001270HP:0001270Motor delay0DMD CL E G H175698896ORPHA1397037602928300377
HP:0001270HP:0001270Motor delay0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM191032938612186
HP:0001270HP:0001270Motor delay0DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM1525062974602378
HP:0001270HP:0001270Motor delay0DPAGT1 CL E G H1798353327ORPHA1421572995191350
HP:0001270HP:0001270Motor delay0DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM1421572995191350
HP:0001270HP:0001270Motor delay0DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0001270HP:0001270Motor delay0DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM17714532961600112
HP:0001270HP:0001270Motor delay0EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM1241973239129010
HP:0001270HP:0001270Motor delay0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM1241973239129010
HP:0001270HP:0001270Motor delay0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0001270HP:0001270Motor delay0EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0001270HP:0001270Motor delay0EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0001270HP:0001270Motor delay0EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0001270HP:0001270Motor delay0FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM11219124587610531
HP:0001270HP:0001270Motor delay0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0001270HP:0001270Motor delay0FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0001270HP:0001270Motor delay0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM111314023604612570
HP:0001270HP:0001270Motor delay0FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM123030546614585
HP:0001270HP:0001270Motor delay0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM13041519125611104
HP:0001270HP:0001270Motor delay0FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM1774313690134934
HP:0001270HP:0001270Motor delay0FKBP14 CL E G H55033300179ORPHA168618625614505
HP:0001270HP:0001270Motor delay0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM168618625614505
HP:0001270HP:0001270Motor delay0FKRP CL E G H79147370980ORPHA114140217997606596
HP:0001270HP:0001270Motor delay0FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0001270HP:0001270Motor delay0FKTN CL E G H2218370980ORPHA1594503622607440
HP:0001270HP:0001270Motor delay0FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM1594503622607440
HP:0001270HP:0001270Motor delay0FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM1594503622607440
HP:0001270HP:0001270Motor delay0FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0001270HP:0001270Motor delay0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11693573811164874
HP:0001270HP:0001270Motor delay0GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14942064177606463
HP:0001270HP:0001270Motor delay0GCK CL E G H264599885ORPHA18484704195138079
HP:0001270HP:0001270Motor delay0GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18484704195138079
HP:0001270HP:0001270Motor delay0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM110335115968606598
HP:0001270HP:0001270Motor delay0GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11921813780606639
HP:0001270HP:0001270Motor delay0GFPT1 CL E G H2673353327ORPHA1502924241138292
HP:0001270HP:0001270Motor delay0GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1502924241138292
HP:0001270HP:0001270Motor delay0GHR CL E G H2690633ORPHA11211814263600946
HP:0001270HP:0001270Motor delay0GJB1 CL E G H27051175CDK4 linked melanomaORPHA14996684283304040
HP:0001270HP:0001270Motor delay0GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM14996684283304040
HP:0001270HP:0001270Motor delay0GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15713317494608803
HP:0001270HP:0001270Motor delay0GMPPB CL E G H29925353327ORPHA14915122932615320
HP:0001270HP:0001270Motor delay0GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM1201184593604473
HP:0001270HP:0001270Motor delay0GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM12694651189964
HP:0001270HP:0001270Motor delay0HACD1 CL E G H92002020ORPHA11339639610467
HP:0001270HP:0001270Motor delay0HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM12817626361611642
HP:0001270HP:0001270Motor delay0HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM12817626361611642
HP:0001270HP:0001270Motor delay0HEPACAM CL E G H220296613926Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation613926C3151356OMIM12817626361611642
HP:0001270HP:0001270Motor delay0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0001270HP:0001270Motor delay0HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0001270HP:0001270Motor delay0HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM14282725157308000
HP:0001270HP:0001270Motor delay0HYMAI CL E G H5706199886ORPHA1155326606546
HP:0001270HP:0001270Motor delay0IARS2 CL E G H55699436174ORPHA1911429685612801
HP:0001270HP:0001270Motor delay0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM1911429685612801
HP:0001270HP:0001270Motor delay0IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0001270HP:0001270Motor delay0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131675464147440
HP:0001270HP:0001270Motor delay0IGF1R CL E G H348073273ORPHA1796225465147370
HP:0001270HP:0001270Motor delay0IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0001270HP:0001270Motor delay0IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM111675466147470
HP:0001270HP:0001270Motor delay0INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11013633882607875
HP:0001270HP:0001270Motor delay0INS CL E G H363099885ORPHA1831156081176730
HP:0001270HP:0001270Motor delay0INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831156081176730
HP:0001270HP:0001270Motor delay0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0001270HP:0001270Motor delay0ISPD CL E G H729920370980ORPHA147537276614631
HP:0001270HP:0001270Motor delay0ITGA7 CL E G H36792020ORPHA1103706143600536
HP:0001270HP:0001270Motor delay0ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM1103706143600536
HP:0001270HP:0001270Motor delay0ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1955016180147265
HP:0001270HP:0001270Motor delay0ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM1955016180147265
HP:0001270HP:0001270Motor delay0KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM17622817582605880
HP:0001270HP:0001270Motor delay0KBTBD13 CL E G H390594171439ORPHA11126037227613727
HP:0001270HP:0001270Motor delay0KCNA4 CL E G H3739618284618284618284OMIM11286222176266
HP:0001270HP:0001270Motor delay0KCNC3 CL E G H374898768ORPHA112946235176264
HP:0001270HP:0001270Motor delay0KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM112946235176264
HP:0001270HP:0001270Motor delay0KCNJ11 CL E G H376799886ORPHA11872276257600937
HP:0001270HP:0001270Motor delay0KCNJ11 CL E G H376799885ORPHA11872276257600937
HP:0001270HP:0001270Motor delay0KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872276257600937
HP:0001270HP:0001270Motor delay0KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM1173729079609132
HP:0001270HP:0001270Motor delay0KIF7 CL E G H374654607131Macrocephaly with multiple epiphyseal dysplasia and distinctive facies607131C1846722OMIM14538630497611254
HP:0001270HP:0001270Motor delay0KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM132520716611729
HP:0001270HP:0001270Motor delay0KLHL40 CL E G H131377171430ORPHA12619030372615340
HP:0001270HP:0001270Motor delay0KLHL41 CL E G H10324171433ORPHA199816905607701
HP:0001270HP:0001270Motor delay0KLHL41 CL E G H10324171430ORPHA199816905607701
HP:0001270HP:0001270Motor delay0KLHL41 CL E G H10324171439ORPHA199816905607701
HP:0001270HP:0001270Motor delay0KLHL41 CL E G H10324615731Nemaline myopathy 9615731C3810384OMIM199816905607701
HP:0001270HP:0001270Motor delay0LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM1433496481150320
HP:0001270HP:0001270Motor delay0LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM138014996482156225
HP:0001270HP:0001270Motor delay0LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM138014996482156225
HP:0001270HP:0001270Motor delay0LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA138014996482156225
HP:0001270HP:0001270Motor delay0LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0001270HP:0001270Motor delay0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1817916429607031
HP:0001270HP:0001270Motor delay0LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM157411526636150330
HP:0001270HP:0001270Motor delay0LMOD3 CL E G H56203171430ORPHA1181686649616112
HP:0001270HP:0001270Motor delay0LTBP4 CL E G H842598896ORPHA1182396717604710
HP:0001270HP:0001270Motor delay0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0001270HP:0001270Motor delay0MAP3K20 CL E G H517762020ORPHA173617797609479
HP:0001270HP:0001270Motor delay0MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM173617797609479
HP:0001270HP:0001270Motor delay0MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0001270HP:0001270Motor delay0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0001270HP:0001270Motor delay0MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM1211306946603294
HP:0001270HP:0001270Motor delay0MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0001270HP:0001270Motor delay0MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0001270HP:0001270Motor delay0MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM1892456996600662
HP:0001270HP:0001270Motor delay0MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM11949529634612453
HP:0001270HP:0001270Motor delay0MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM18621530605084
HP:0001270HP:0001270Motor delay0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0001270HP:0001270Motor delay0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0001270HP:0001270Motor delay0MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM111135317082605908
HP:0001270HP:0001270Motor delay0MMP13 CL E G H4322250400Metaphyseal chondrodysplasia, Spahr type250400C0432225OMIM110957159600108
HP:0001270HP:0001270Motor delay0MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM1242467208603785
HP:0001270HP:0001270Motor delay0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM12464447225159440
HP:0001270HP:0001270Motor delay0MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM12464447225159440
HP:0001270HP:0001270Motor delay0MSTO1 CL E G H55154502423ORPHA183529678617619
HP:0001270HP:0001270Motor delay0MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM183529678617619
HP:0001270HP:0001270Motor delay0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001270HP:0001270Motor delay0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001270HP:0001270Motor delay0MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001270HP:0001270Motor delay0MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM1242907450603557
HP:0001270HP:0001270Motor delay0MTPAP CL E G H55149254343ORPHA127625532613669
HP:0001270HP:0001270Motor delay0MYL2 CL E G H46332020ORPHA1672827583160781
HP:0001270HP:0001270Motor delay0MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0001270HP:0001270Motor delay0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM152712577606276903
HP:0001270HP:0001270Motor delay0MYPN CL E G H84665171439ORPHA14666423246608517
HP:0001270HP:0001270Motor delay0MYPN CL E G H84665171881ORPHA14666423246608517
HP:0001270HP:0001270Motor delay0NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001270HP:0001270Motor delay0NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM1326430782608000
HP:0001270HP:0001270Motor delay0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0001270HP:0001270Motor delay0NEB CL E G H4703171430ORPHA132130107720161650
HP:0001270HP:0001270Motor delay0NEB CL E G H4703171433ORPHA132130107720161650
HP:0001270HP:0001270Motor delay0NEB CL E G H4703171439ORPHA132130107720161650
HP:0001270HP:0001270Motor delay0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132130107720161650
HP:0001270HP:0001270Motor delay0NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM1443767739162280
HP:0001270HP:0001270Motor delay0NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM1443767739162280
HP:0001270HP:0001270Motor delay0NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM11041547788164005
HP:0001270HP:0001270Motor delay0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0001270HP:0001270Motor delay0NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM114313611825600635
HP:0001270HP:0001270Motor delay0NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM114313611825600635
HP:0001270HP:0001270Motor delay0NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM1910419321605955
HP:0001270HP:0001270Motor delay0NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0001270HP:0001270Motor delay0NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0001270HP:0001270Motor delay0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0001270HP:0001270Motor delay0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0001270HP:0001270Motor delay0NT5C2 CL E G H22978320396ORPHA181008022600417
HP:0001270HP:0001270Motor delay0NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM181008022600417
HP:0001270HP:0001270Motor delay0OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM13944418140605290
HP:0001270HP:0001270Motor delay0PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM131388632176310
HP:0001270HP:0001270Motor delay0PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM111448646126090
HP:0001270HP:0001270Motor delay0PCDH15 CL E G H65217602083Usher syndrome, type 1F602083C1865885OMIM1122104914674605514
HP:0001270HP:0001270Motor delay0PDE10A CL E G H10846494526ORPHA15778772610652
HP:0001270HP:0001270Motor delay0PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM15778772610652
HP:0001270HP:0001270Motor delay0PDX1 CL E G H365199885ORPHA133866107600733
HP:0001270HP:0001270Motor delay0PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM133866107600733
HP:0001270HP:0001270Motor delay0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122840038614770
HP:0001270HP:0001270Motor delay0PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM11143588926300798
HP:0001270HP:0001270Motor delay0PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0001270HP:0001270Motor delay0PLAGL1 CL E G H532599886ORPHA12299046603044
HP:0001270HP:0001270Motor delay0PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM110427619069601282
HP:0001270HP:0001270Motor delay0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0001270HP:0001270Motor delay0PLXND1 CL E G H23129570ORPHA181049107604282
HP:0001270HP:0001270Motor delay0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM11653379118601097
HP:0001270HP:0001270Motor delay0PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM11653379118601097
HP:0001270HP:0001270Motor delay0PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM1245179154605610
HP:0001270HP:0001270Motor delay0PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM1341397892164050
HP:0001270HP:0001270Motor delay0PNPLA2 CL E G H5710498908ORPHA14927730802609059
HP:0001270HP:0001270Motor delay0POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM18946119139606822
HP:0001270HP:0001270Motor delay0POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM1814826267615247
HP:0001270HP:0001270Motor delay0POMT1 CL E G H10585370980ORPHA1965089202607423
HP:0001270HP:0001270Motor delay0POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM1965089202607423
HP:0001270HP:0001270Motor delay0POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0001270HP:0001270Motor delay0POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM17550219743607439
HP:0001270HP:0001270Motor delay0PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM11827030228609557
HP:0001270HP:0001270Motor delay0PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM1111029438603424
HP:0001270HP:0001270Motor delay0PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM1322599462311850
HP:0001270HP:0001270Motor delay0PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM1322599462311850
HP:0001270HP:0001270Motor delay0PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM16269913797605725
HP:0001270HP:0001270Motor delay0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM16269913797605725
HP:0001270HP:0001270Motor delay0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0001270HP:0001270Motor delay0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0001270HP:0001270Motor delay0PTPRQ CL E G H374462613391Deafness, autosomal recessive 84613391C3150654OMIM134719679603317
HP:0001270HP:0001270Motor delay0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM1123214957607204
HP:0001270HP:0001270Motor delay0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0001270HP:0001270Motor delay0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0001270HP:0001270Motor delay0RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0001270HP:0001270Motor delay0REV3L CL E G H5980570ORPHA191249968602776
HP:0001270HP:0001270Motor delay0RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM1153810258600825
HP:0001270HP:0001270Motor delay0RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0001270HP:0001270Motor delay0RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM117130910432300075
HP:0001270HP:0001270Motor delay0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM143929420616585
HP:0001270HP:0001270Motor delay0RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM1410828991613516
HP:0001270HP:0001270Motor delay0RYR1 CL E G H626198905ORPHA1688309410483180901
HP:0001270HP:0001270Motor delay0RYR1 CL E G H6261597ORPHA1688309410483180901
HP:0001270HP:0001270Motor delay0RYR1 CL E G H6261324581ORPHA1688309410483180901
HP:0001270HP:0001270Motor delay0RYR1 CL E G H6261424107ORPHA1688309410483180901
HP:0001270HP:0001270Motor delay0RYR1 CL E G H6261169186ORPHA1688309410483180901
HP:0001270HP:0001270Motor delay0RYR1 CL E G H6261117000117000117000OMIM1688309410483180901
HP:0001270HP:0001270Motor delay0RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1688309410483180901
HP:0001270HP:0001270Motor delay0SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
HP:0001270HP:0001270Motor delay0SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM12045410583604385
HP:0001270HP:0001270Motor delay0SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM11611217210585182389
HP:0001270HP:0001270Motor delay0SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM112984810591603967
HP:0001270HP:0001270Motor delay0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1510110603603644
HP:0001270HP:0001270Motor delay0SCO2 CL E G H9997521411ORPHA13727510604604272
HP:0001270HP:0001270Motor delay0SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM1115714372607982
HP:0001270HP:0001270Motor delay0SDHA CL E G H63893208ORPHA191127910680600857
HP:0001270HP:0001270Motor delay0SDHAF1 CL E G H6440963208ORPHA164033867612848
HP:0001270HP:0001270Motor delay0SDHB CL E G H63903208ORPHA127966710681185470
HP:0001270HP:0001270Motor delay0SDHD CL E G H63923208ORPHA117436110683602690
HP:0001270HP:0001270Motor delay0SELENON CL E G H571902020ORPHA16335415999606210
HP:0001270HP:0001270Motor delay0SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM16335415999606210
HP:0001270HP:0001270Motor delay0SETBP1 CL E G H26040616078Mental retardation, autosomal dominant 29616078C4015141OMIM14721215573611060
HP:0001270HP:0001270Motor delay0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1102109229427608206
HP:0001270HP:0001270Motor delay0SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119436614294606230
HP:0001270HP:0001270Motor delay0SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12038710914604878
HP:0001270HP:0001270Motor delay0SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM11814510941600111
HP:0001270HP:0001270Motor delay0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0001270HP:0001270Motor delay0SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM174511071107310
HP:0001270HP:0001270Motor delay0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18824411102606622
HP:0001270HP:0001270Motor delay0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0001270HP:0001270Motor delay0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0001270HP:0001270Motor delay0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0001270HP:0001270Motor delay0SOX5 CL E G H6660313892ORPHA12914611201604975
HP:0001270HP:0001270Motor delay0SP7 CL E G H121340613849Osteogenesis imperfecta type 12613849C3151433OMIM133817321606633
HP:0001270HP:0001270Motor delay0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM153411219182120
HP:0001270HP:0001270Motor delay0SPART CL E G H23111101000ORPHA1718318514607111
HP:0001270HP:0001270Motor delay0SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM1718318514607111
HP:0001270HP:0001270Motor delay0SPEG CL E G H10290169186ORPHA11319816901615950
HP:0001270HP:0001270Motor delay0SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM11319816901615950
HP:0001270HP:0001270Motor delay0SPR CL E G H669770594ORPHA12510011257182125
HP:0001270HP:0001270Motor delay0SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0001270HP:0001270Motor delay0SRD5A3 CL E G H79644612713Kahrizi syndrome612713C2675185OMIM11613925812611715
HP:0001270HP:0001270Motor delay0STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM149028423615521
HP:0001270HP:0001270Motor delay0STAT3 CL E G H677499885ORPHA115529111364102582
HP:0001270HP:0001270Motor delay0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0001270HP:0001270Motor delay0SYNGAP1 CL E G H8831612621Mental retardation, autosomal dominant 5612621C2675473OMIM18651711497603384
HP:0001270HP:0001270Motor delay0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM135724316612958
HP:0001270HP:0001270Motor delay0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0001270HP:0001270Motor delay0TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0001270HP:0001270Motor delay0TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM142518345611357
HP:0001270HP:0001270Motor delay0TH CL E G H7054101150ORPHA17734511782191290
HP:0001270HP:0001270Motor delay0TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM17734511782191290
HP:0001270HP:0001270Motor delay0TK2 CL E G H7084254875ORPHA16020611831188250
HP:0001270HP:0001270Motor delay0TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0001270HP:0001270Motor delay0TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0001270HP:0001270Motor delay0TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM12621611908603499
HP:0001270HP:0001270Motor delay0TNNT1 CL E G H713898902ORPHA1815611948191041
HP:0001270HP:0001270Motor delay0TPM2 CL E G H71692020ORPHA14019912011190990
HP:0001270HP:0001270Motor delay0TPM2 CL E G H7169171881ORPHA14019912011190990
HP:0001270HP:0001270Motor delay0TPM2 CL E G H7169171439ORPHA14019912011190990
HP:0001270HP:0001270Motor delay0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM14019912011190990
HP:0001270HP:0001270Motor delay0TPM3 CL E G H71702020ORPHA12822512012191030
HP:0001270HP:0001270Motor delay0TPM3 CL E G H7170171439ORPHA12822512012191030
HP:0001270HP:0001270Motor delay0TPM3 CL E G H7170171881ORPHA12822512012191030
HP:0001270HP:0001270Motor delay0TPM3 CL E G H7170171433ORPHA12822512012191030
HP:0001270HP:0001270Motor delay0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM12822512012191030
HP:0001270HP:0001270Motor delay0TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0001270HP:0001270Motor delay0TRIP11 CL E G H9321184260Goldblatt hypertension184260C0018036OMIM11731512305604505
HP:0001270HP:0001270Motor delay0TRIP4 CL E G H9325486815ORPHA134812310604501
HP:0001270HP:0001270Motor delay0TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM134812310604501
HP:0001270HP:0001270Motor delay0TRMT10A CL E G H93587616033Microcephaly, short stature, and impaired glucose metabolism 1616033C4014997OMIM182928403616013
HP:0001270HP:0001270Motor delay0TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM18253918083605427
HP:0001270HP:0001270Motor delay0TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM1116814006606680
HP:0001270HP:0001270Motor delay0TSHR CL E G H7253424ORPHA116117812373603372
HP:0001270HP:0001270Motor delay0TSHR CL E G H725399819ORPHA116117812373603372
HP:0001270HP:0001270Motor delay0TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM116117812373603372
HP:0001270HP:0001270Motor delay0TTN CL E G H7273169186ORPHA13461438512403188840
HP:0001270HP:0001270Motor delay0TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM13461438512403188840
HP:0001270HP:0001270Motor delay0TUBA1A CL E G H7846611603Lissencephaly 3611603C1969029OMIM16819020766602529
HP:0001270HP:0001270Motor delay0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM183320778191130
HP:0001270HP:0001270Motor delay0TUBB2B CL E G H347733610031Polymicrogyria, asymmetric610031C2750247OMIM13011430829612850
HP:0001270HP:0001270Motor delay0TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14213920774602662
HP:0001270HP:0001270Motor delay0UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0001270HP:0001270Motor delay0USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM15147712597605242
HP:0001270HP:0001270Motor delay0VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM17118412679601769
HP:0001270HP:0001270Motor delay0VPS13B CL E G H157680216550Cohen syndrome216550C0265223OMIM121316062183607817
HP:0001270HP:0001270Motor delay0WDR73 CL E G H8494283472ORPHA1129525928616144
HP:0001270HP:0001270Motor delay0WWOX CL E G H51741284282ORPHA15059612799605131
HP:0001270HP:0001270Motor delay0ZBTB24 CL E G H9841614069Immunodeficiency-centromeric instability-facial anomalies syndrome 2614069C3279748OMIM11813421143614064
HP:0001270HP:0001270Motor delay0ZEB2 CL E G H9839235730Mowat-Wilson syndrome235730C1856113OMIM129861314881605802
HP:0001270HP:0001270Motor delay0ZFP57 CL E G H34617199886ORPHA1155018791612192
HP:0001270HP:0001270Motor delay0ZNF592 CL E G H964083472ORPHA116328986613624
HP:0001270HP:0001270Motor delay0ZNF711 CL E G H7552300803ZNF711-Related X-linked Mental Retardation300803C2749020OMIM1822513128314990
HP:0001270HP:0001270Motor delay1ABCC8 CL E G H683399885ORPHA166160259600509
HP:0001270HP:0001270Motor delay1ABCC8 CL E G H683399886ORPHA166160259600509
HP:0001270HP:0001270Motor delay1ABCC8 CL E G H6833606176Permanent neonatal diabetes mellitus606176C1833104OMIM166160259600509
HP:0001270HP:0001270Motor delay1ACADSB CL E G H36610006Deficiency of 2-methylbutyryl-CoA dehydrogenase610006C1864912OMIM11522991600301
HP:0001270HP:0001270Motor delay1ACTA1 CL E G H58171439ORPHA1217272129102610
HP:0001270HP:0001270Motor delay1ACTA1 CL E G H582020ORPHA1217272129102610
HP:0001270HP:0001270Motor delay1ACTA1 CL E G H58171433ORPHA1217272129102610
HP:0001270HP:0001270Motor delay1ACTA1 CL E G H58171430ORPHA1217272129102610
HP:0001270HP:0001270Motor delay1ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217272129102610
HP:0001270HP:0001270Motor delay1ADA2 CL E G H51816820ORPHA1552161839607575
HP:0001270HP:0001270Motor delay1ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM112577218604539
HP:0001270HP:0001270Motor delay1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM12718621869610345
HP:0001270HP:0001270Motor delay1AGTPBP1 CL E G H23287618276618276618276OMIM115217258606830
HP:0001270HP:0001270Motor delay1AHCY CL E G H191613752Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency613752C3151058OMIM11594343180960
HP:0001270HP:0001270Motor delay1ALDH18A1 CL E G H5832447760ORPHA1332529722138250
HP:0001270HP:0001270Motor delay1ALDH5A1 CL E G H7915271980Succinate-semialdehyde dehydrogenase deficiency271980C0268631OMIM175334408610045
HP:0001270HP:0001270Motor delay1ALG14 CL E G H199857353327ORPHA165228287612866
HP:0001270HP:0001270Motor delay1ALG2 CL E G H85365353327ORPHA1515323159607905
HP:0001270HP:0001270Motor delay1ALS2 CL E G H57679607225Infantile-onset ascending hereditary spastic paralysis607225C2931441OMIM173347443606352
HP:0001270HP:0001270Motor delay1AP3B1 CL E G H8546608233Hermansky Pudlak syndrome 2608233C1842362OMIM135238566603401
HP:0001270HP:0001270Motor delay1APOPT1 CL E G H84334436271ORPHA19320492616003
HP:0001270HP:0001270Motor delay1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM19320492616003
HP:0001270HP:0001270Motor delay1ARCN1 CL E G H372617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay617164C4310686OMIM1351649600820
HP:0001270HP:0001270Motor delay1ARHGEF2 CL E G H9181617523Neurodevelopmental disorder with midbrain and hindbrain malformations617523C4479613OMIM1231682607560
HP:0001270HP:0001270Motor delay1ARID2 CL E G H196528617808COFFIN-SIRIS SYNDROME 6617808C4540499OMIM11111518037609539
HP:0001270HP:0001270Motor delay1ASAH1 CL E G H427228000Farber disease228000C0268255OMIM171306735613468
HP:0001270HP:0001270Motor delay1ASPM CL E G H259266608716Primary autosomal recessive microcephaly 5608716C1837501OMIM121379019048605481
HP:0001270HP:0001270Motor delay1ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM18522011231606439
HP:0001270HP:0001270Motor delay1ATP1A3 CL E G H47871517ORPHA1122407801182350
HP:0001270HP:0001270Motor delay1ATP2B3 CL E G H492314978ORPHA17275816300014
HP:0001270HP:0001270Motor delay1ATP2B3 CL E G H492302500Spinocerebellar ataxia, X-linked 1302500C0796205OMIM17275816300014
HP:0001270HP:0001270Motor delay1ATP6AP2 CL E G H10159300423Mental retardation, X-linked, syndromic, Hedera type300423C1845543OMIM1622618305300556
HP:0001270HP:0001270Motor delay1ATP6V0A2 CL E G H23545357074ORPHA15630918481611716
HP:0001270HP:0001270Motor delay1ATP6V0A2 CL E G H23545219200Cutis laxa with osteodystrophy219200C0268355OMIM15630918481611716
HP:0001270HP:0001270Motor delay1ATP6V1A CL E G H523357074ORPHA1947851607027
HP:0001270HP:0001270Motor delay1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1947851607027
HP:0001270HP:0001270Motor delay1ATP6V1E1 CL E G H529357074ORPHA1278857108746
HP:0001270HP:0001270Motor delay1ATXN7 CL E G H631494147ORPHA163110560607640
HP:0001270HP:0001270Motor delay1AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM112128890600529
HP:0001270HP:0001270Motor delay1BCOR CL E G H54880309800Lenz microphthalmia syndrome309800C0796016OMIM15541520893300485
HP:0001270HP:0001270Motor delay1BCOR CL E G H54880300166Oculofaciocardiodental syndrome300166C1846265OMIM15541520893300485
HP:0001270HP:0001270Motor delay1BICD2 CL E G H23299618291618291618291OMIM13532317208609797
HP:0001270HP:0001270Motor delay1BICD2 CL E G H23299615290Spinal muscular atrophy, lower extremity predominant 2, autosomal dominant615290C3809049OMIM13532317208609797
HP:0001270HP:0001270Motor delay1BIN1 CL E G H274169186ORPHA1173151052601248
HP:0001270HP:0001270Motor delay1BIN1 CL E G H274255200Autosomal recessive centronuclear myopathy255200C0410204OMIM1173151052601248
HP:0001270HP:0001270Motor delay1BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM12411416512606412
HP:0001270HP:0001270Motor delay1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM12816619721613165
HP:0001270HP:0001270Motor delay1CDC6 CL E G H990613805Meier-Gorlin syndrome 5613805C3151126OMIM14581744602627
HP:0001270HP:0001270Motor delay1CHKB CL E G H1120602541Muscular dystrophy, congenital, megaconial type602541C1865233OMIM1272821938612395
HP:0001270HP:0001270Motor delay1CHRNA1 CL E G H1134608930Congenital myasthenic syndrome 1B, fast-channel608930C1837122OMIM1362361955100690
HP:0001270HP:0001270Motor delay1CHRNE CL E G H1145608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM11383871966100725
HP:0001270HP:0001270Motor delay1CHST14 CL E G H113189601776Ehlers-Danlos syndrome, musculocontractural type601776C1866294OMIM1229624464608429
HP:0001270HP:0001270Motor delay1CHST3 CL E G H9469263463ORPHA1392651971603799
HP:0001270HP:0001270Motor delay1CIB2 CL E G H10518614869Usher syndrome, type 1J614869C3553944OMIM1186524579605564
HP:0001270HP:0001270Motor delay1CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM161052026602024
HP:0001270HP:0001270Motor delay1CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM11521662027602023
HP:0001270HP:0001270Motor delay1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171925716615623
HP:0001270HP:0001270Motor delay1COG4 CL E G H25839618150SAUL-WILSON SYNDROME618150OMIM1614118620606976
HP:0001270HP:0001270Motor delay1COL12A1 CL E G H1303616470Ullrich congenital muscular dystrophy 2616470C4225314OMIM1158062188120320
HP:0001270HP:0001270Motor delay1COL2A1 CL E G H1280156550Kniest dysplasia156550C0265279OMIM15707312200120140
HP:0001270HP:0001270Motor delay1COL6A1 CL E G H1291158810Bethlem myopathy 1158810CN029274OMIM113710072211120220
HP:0001270HP:0001270Motor delay1COL6A1 CL E G H1291254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM113710072211120220
HP:0001270HP:0001270Motor delay1COL6A2 CL E G H1292158810Bethlem myopathy 1158810CN029274OMIM119111482212120240
HP:0001270HP:0001270Motor delay1COL6A2 CL E G H1292254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM119111482212120240
HP:0001270HP:0001270Motor delay1COL6A3 CL E G H1293158810Bethlem myopathy 1158810CN029274OMIM114316342213120250
HP:0001270HP:0001270Motor delay1COL6A3 CL E G H1293254090Ullrich congenital muscular dystrophy 1254090CN033863OMIM114316342213120250
HP:0001270HP:0001270Motor delay1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM13310225223609825
HP:0001270HP:0001270Motor delay1COQ7 CL E G H10229616733Coenzyme Q10 deficiency, primary, 8616733C4225226OMIM15492244601683
HP:0001270HP:0001270Motor delay1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1132082260602125
HP:0001270HP:0001270Motor delay1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001270HP:0001270Motor delay1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1112726970614698
HP:0001270HP:0001270Motor delay1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13342280124089
HP:0001270HP:0001270Motor delay1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11122294123870
HP:0001270HP:0001270Motor delay1CRAT CL E G H1384617917NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8617917CN895591OMIM12512342600184
HP:0001270HP:0001270Motor delay1CTBP1 CL E G H1487617915HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME617915CN895589OMIM111642494602618
HP:0001270HP:0001270Motor delay1CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM112472498604927
HP:0001270HP:0001270Motor delay1CYP27B1 CL E G H1594264700Vitamin D-dependent rickets, type 1264700C0268689OMIM182932606609506
HP:0001270HP:0001270Motor delay1CYP2U1 CL E G H113612615030Spastic paraplegia 56, autosomal recessive615030C3539507OMIM1198520582610670
HP:0001270HP:0001270Motor delay1DARS CL E G H1615615281Hypomyelination with brainstem and spinal cord involvement and leg spasticity615281C3809008OMIM1182678603084
HP:0001270HP:0001270Motor delay1DARS2 CL E G H55157611105Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation611105C1970180OMIM16516325538610956
HP:0001270HP:0001270Motor delay1DCX CL E G H1641300067Lissencephaly, X-linked300067C1848199OMIM11423302714300121
HP:0001270HP:0001270Motor delay1DMD CL E G H175698896ORPHA1397037602928300377
HP:0001270HP:0001270Motor delay1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM191032938612186
HP:0001270HP:0001270Motor delay1DNM2 CL E G H1785160150Myopathy, centronuclear, 1160150C1834558OMIM1525062974602378
HP:0001270HP:0001270Motor delay1DPAGT1 CL E G H1798353327ORPHA1421572995191350
HP:0001270HP:0001270Motor delay1DPAGT1 CL E G H1798614750Congenital myasthenic syndrome 13614750C3553645OMIM1421572995191350
HP:0001270HP:0001270Motor delay1DPYD CL E G H1806274270Dihydropyrimidine dehydrogenase deficiency274270C2720286OMIM11242853012612779
HP:0001270HP:0001270Motor delay1DYNC1H1 CL E G H1778614228Charcot-Marie-Tooth disease, axonal, type 2O614228C3280220OMIM17714532961600112
HP:0001270HP:0001270Motor delay1EGR2 CL E G H1959605253Congenital hypomyelinating neuropathy605253C0393818OMIM1241973239129010
HP:0001270HP:0001270Motor delay1EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM1241973239129010
HP:0001270HP:0001270Motor delay1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0001270HP:0001270Motor delay1EPG5 CL E G H57724242840Vici syndrome242840C1855772OMIM16849529331615068
HP:0001270HP:0001270Motor delay1EXOSC2 CL E G H23404617763SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES617763C4540367OMIM125917097602238
HP:0001270HP:0001270Motor delay1EXTL3 CL E G H2137617425Immunoskeletal dysplasia with neurodevelopmental abnormalities617425C4479452OMIM19973518605744
HP:0001270HP:0001270Motor delay1FAM126A CL E G H84668610532Hypomyelination and Congenital Cataract610532C1864663OMIM11219124587610531
HP:0001270HP:0001270Motor delay1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1323529160612322
HP:0001270HP:0001270Motor delay1FBN1 CL E G H2200284979ORPHA1272142843603134797
HP:0001270HP:0001270Motor delay1FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM111314023604612570
HP:0001270HP:0001270Motor delay1FDX2 CL E G H112812251900Mitochondrial myopathy251900C0162670OMIM123030546614585
HP:0001270HP:0001270Motor delay1FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM13041519125611104
HP:0001270HP:0001270Motor delay1FGFR3 CL E G H2261100800Achondroplasia100800C0001080OMIM1774313690134934
HP:0001270HP:0001270Motor delay1FKBP14 CL E G H55033300179ORPHA168618625614505
HP:0001270HP:0001270Motor delay1FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM168618625614505
HP:0001270HP:0001270Motor delay1FKRP CL E G H79147370980ORPHA114140217997606596
HP:0001270HP:0001270Motor delay1FKRP CL E G H79147613153Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5613153C3150413OMIM114140217997606596
HP:0001270HP:0001270Motor delay1FKTN CL E G H2218370980ORPHA1594503622607440
HP:0001270HP:0001270Motor delay1FKTN CL E G H2218613152Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4613152C2751052OMIM1594503622607440
HP:0001270HP:0001270Motor delay1FKTN CL E G H2218611588Limb-girdle muscular dystrophy-dystroglycanopathy, type C4611588C1969040OMIM1594503622607440
HP:0001270HP:0001270Motor delay1FLNA CL E G H2316309350Melnick-Needles syndrome309350C0025237OMIM127114723754300017
HP:0001270HP:0001270Motor delay1FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM11693573811164874
HP:0001270HP:0001270Motor delay1GBA CL E G H2629231000Subacute neuronopathic Gaucher's disease231000C0268251OMIM14942064177606463
HP:0001270HP:0001270Motor delay1GCK CL E G H264599885ORPHA18484704195138079
HP:0001270HP:0001270Motor delay1GCK CL E G H2645606176Permanent neonatal diabetes mellitus606176C1833104OMIM18484704195138079
HP:0001270HP:0001270Motor delay1GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM110335115968606598
HP:0001270HP:0001270Motor delay1GFM1 CL E G H85476609060Combined oxidative phosphorylation deficiency 1609060C1836797OMIM11921813780606639
HP:0001270HP:0001270Motor delay1GFPT1 CL E G H2673353327ORPHA1502924241138292
HP:0001270HP:0001270Motor delay1GFPT1 CL E G H2673608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency608931C1837091OMIM1502924241138292
HP:0001270HP:0001270Motor delay1GHR CL E G H2690633ORPHA11211814263600946
HP:0001270HP:0001270Motor delay1GJB1 CL E G H27051175CDK4 linked melanomaORPHA14996684283304040
HP:0001270HP:0001270Motor delay1GJB1 CL E G H2705302800X-linked hereditary motor and sensory neuropathy302800C0393808OMIM14996684283304040
HP:0001270HP:0001270Motor delay1GJC2 CL E G H57165608804Leukodystrophy, hypomyelinating, 2608804C1837355OMIM15713317494608803
HP:0001270HP:0001270Motor delay1GMPPB CL E G H29925353327ORPHA14915122932615320
HP:0001270HP:0001270Motor delay1GRM1 CL E G H2911617691SPINOCEREBELLAR ATAXIA 44617691C4521563OMIM1201184593604473
HP:0001270HP:0001270Motor delay1GTF2E2 CL E G H2961616943Trichothiodystrophy 6, nonphotosensitive616943C4310785OMIM12694651189964
HP:0001270HP:0001270Motor delay1HACD1 CL E G H92002020ORPHA11339639610467
HP:0001270HP:0001270Motor delay1HEPACAM CL E G H220296604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM12817626361611642
HP:0001270HP:0001270Motor delay1HEPACAM CL E G H220296613925Megalencephalic leukoencephalopathy with subcortical cysts 2a613925C3151355OMIM12817626361611642
HP:0001270HP:0001270Motor delay1HEPACAM CL E G H220296613926Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation613926C3151356OMIM12817626361611642
HP:0001270HP:0001270Motor delay1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0001270HP:0001270Motor delay1HGSNAT CL E G H138050252930Mucopolysaccharidosis, MPS-III-C252930C0086649OMIM17237126527610453
HP:0001270HP:0001270Motor delay1HPRT1 CL E G H3251300322Lesch-Nyhan syndrome300322C0023374OMIM14282725157308000
HP:0001270HP:0001270Motor delay1HYMAI CL E G H5706199886ORPHA1155326606546
HP:0001270HP:0001270Motor delay1IARS2 CL E G H55699436174ORPHA1911429685612801
HP:0001270HP:0001270Motor delay1IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM1911429685612801
HP:0001270HP:0001270Motor delay1IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0001270HP:0001270Motor delay1IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM1131675464147440
HP:0001270HP:0001270Motor delay1IGF1R CL E G H348073273ORPHA1796225465147370
HP:0001270HP:0001270Motor delay1IGF1R CL E G H3480270450Insulin-like growth factor 1 resistance to270450C1849157OMIM1796225465147370
HP:0001270HP:0001270Motor delay1IGF2 CL E G H3481616489Growth restriction, severe, with distinctive facies616489C4225307OMIM111675466147470
HP:0001270HP:0001270Motor delay1INPP5K CL E G H51763617404Muscular dystrophy, congenital, with cataracts and intellectual disability617404C4479410OMIM11013633882607875
HP:0001270HP:0001270Motor delay1INS CL E G H363099885ORPHA1831156081176730
HP:0001270HP:0001270Motor delay1INS CL E G H3630606176Permanent neonatal diabetes mellitus606176C1833104OMIM1831156081176730
HP:0001270HP:0001270Motor delay1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0001270HP:0001270Motor delay1ISPD CL E G H729920370980ORPHA147537276614631
HP:0001270HP:0001270Motor delay1ITGA7 CL E G H36792020ORPHA1103706143600536
HP:0001270HP:0001270Motor delay1ITGA7 CL E G H3679613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency613204C2750786OMIM1103706143600536
HP:0001270HP:0001270Motor delay1ITPR1 CL E G H3708206700Gillespie syndrome206700C0431401OMIM1955016180147265
HP:0001270HP:0001270Motor delay1ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM1955016180147265
HP:0001270HP:0001270Motor delay1KAT6B CL E G H23522603736Young Simpson syndrome603736C1863557OMIM17622817582605880
HP:0001270HP:0001270Motor delay1KBTBD13 CL E G H390594171439ORPHA11126037227613727
HP:0001270HP:0001270Motor delay1KCNA4 CL E G H3739618284618284618284OMIM11286222176266
HP:0001270HP:0001270Motor delay1KCNC3 CL E G H374898768ORPHA112946235176264
HP:0001270HP:0001270Motor delay1KCNC3 CL E G H3748605259Spinocerebellar ataxia 13605259C1854488OMIM112946235176264
HP:0001270HP:0001270Motor delay1KCNJ11 CL E G H376799886ORPHA11872276257600937
HP:0001270HP:0001270Motor delay1KCNJ11 CL E G H376799885ORPHA11872276257600937
HP:0001270HP:0001270Motor delay1KCNJ11 CL E G H3767606176Permanent neonatal diabetes mellitus606176C1833104OMIM11872276257600937
HP:0001270HP:0001270Motor delay1KDM1A CL E G H23028616728Cleft palate, psychomotor retardation, and distinctive facial features616728C4225229OMIM1173729079609132
HP:0001270HP:0001270Motor delay1KIF7 CL E G H374654607131Macrocephaly with multiple epiphyseal dysplasia and distinctive facies607131C1846722OMIM14538630497611254
HP:0001270HP:0001270Motor delay1KLC2 CL E G H64837609541Spastic paraplegia, optic atrophy, and neuropathy609541C1836010OMIM132520716611729
HP:0001270HP:0001270Motor delay1KLHL40 CL E G H131377171430ORPHA12619030372615340
HP:0001270HP:0001270Motor delay1KLHL41 CL E G H10324171433ORPHA199816905607701
HP:0001270HP:0001270Motor delay1KLHL41 CL E G H10324171430ORPHA199816905607701
HP:0001270HP:0001270Motor delay1KLHL41 CL E G H10324171439ORPHA199816905607701
HP:0001270HP:0001270Motor delay1KLHL41 CL E G H10324615731Nemaline myopathy 9615731C3810384OMIM199816905607701
HP:0001270HP:0001270Motor delay1LAMA1 CL E G H284217615960Poretti-Boltshauser syndrome615960C4014821OMIM1433496481150320
HP:0001270HP:0001270Motor delay1LAMA2 CL E G H3908607855Merosin deficient congenital muscular dystrophy607855C1263858OMIM138014996482156225
HP:0001270HP:0001270Motor delay1LAMA2 CL E G H3908618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23618138OMIM138014996482156225
HP:0001270HP:0001270Motor delay1LAMA2 CL E G H3908258Schmitt Gillenwater Kelly syndromeORPHA138014996482156225
HP:0001270HP:0001270Motor delay1LARGE1 CL E G H9215608840Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6608840C1837229OMIM1284066511603590
HP:0001270HP:0001270Motor delay1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM1817916429607031
HP:0001270HP:0001270Motor delay1LMNA CL E G H4000613205Congenital muscular dystrophy, LMNA-related613205C2750785OMIM157411526636150330
HP:0001270HP:0001270Motor delay1LMOD3 CL E G H56203171430ORPHA1181686649616112
HP:0001270HP:0001270Motor delay1LTBP4 CL E G H842598896ORPHA1182396717604710
HP:0001270HP:0001270Motor delay1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0001270HP:0001270Motor delay1MAP3K20 CL E G H517762020ORPHA173617797609479
HP:0001270HP:0001270Motor delay1MAP3K20 CL E G H51776617760MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION617760C4540345OMIM173617797609479
HP:0001270HP:0001270Motor delay1MAPRE2 CL E G H10982616734Skin creases, congenital symmetric circumferential, 2616734C4225225OMIM14606891605789
HP:0001270HP:0001270Motor delay1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0001270HP:0001270Motor delay1MCM3AP CL E G H8888618124PERIPHERAL NEUROPATHY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT618124CN253838OMIM1211306946603294
HP:0001270HP:0001270Motor delay1MED12 CL E G H9968305450FG syndrome305450C0220769OMIM13465011957300188
HP:0001270HP:0001270Motor delay1MED13L CL E G H23389616789Mental retardation and distinctive facial features with or without cardiac defects616789C4225208OMIM18135022962608771
HP:0001270HP:0001270Motor delay1MEF2C CL E G H4208613443Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443C3150700OMIM1892456996600662
HP:0001270HP:0001270Motor delay1MEGF10 CL E G H84466614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset614399C3280679OMIM11949529634612453
HP:0001270HP:0001270Motor delay1MICU1 CL E G H10367615673Myopathy with extrapyramidal signs615673C3810285OMIM18621530605084
HP:0001270HP:0001270Motor delay1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0001270HP:0001270Motor delay1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0001270HP:0001270Motor delay1MLC1 CL E G H23209604004Megalencephalic leukoencephalopathy with subcortical cysts 1604004C1858854OMIM111135317082605908
HP:0001270HP:0001270Motor delay1MMP13 CL E G H4322250400Metaphyseal chondrodysplasia, Spahr type250400C0432225OMIM110957159600108
HP:0001270HP:0001270Motor delay1MPDZ CL E G H8777615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies615219C3554691OMIM1242467208603785
HP:0001270HP:0001270Motor delay1MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM12464447225159440
HP:0001270HP:0001270Motor delay1MPZ CL E G H4359180800Roussy-Lévy syndrome180800C0205713OMIM12464447225159440
HP:0001270HP:0001270Motor delay1MSTO1 CL E G H55154502423ORPHA183529678617619
HP:0001270HP:0001270Motor delay1MSTO1 CL E G H55154617675MYOPATHY, MITOCHONDRIAL, AND ATAXIA617675C4540096OMIM183529678617619
HP:0001270HP:0001270Motor delay1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001270HP:0001270Motor delay1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001270HP:0001270Motor delay1MT-TW CL E G H4578251900Mitochondrial myopathy251900C0162670OMIM17501590095
HP:0001270HP:0001270Motor delay1MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM1242907450603557
HP:0001270HP:0001270Motor delay1MTPAP CL E G H55149254343ORPHA127625532613669
HP:0001270HP:0001270Motor delay1MYL2 CL E G H46332020ORPHA1672827583160781
HP:0001270HP:0001270Motor delay1MYMK CL E G H389827254940Congenital nonprogressive myopathy with Moebius and Robin sequences254940C1850746OMIM175733778615345
HP:0001270HP:0001270Motor delay1MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM152712577606276903
HP:0001270HP:0001270Motor delay1MYPN CL E G H84665171439ORPHA14666423246608517
HP:0001270HP:0001270Motor delay1MYPN CL E G H84665171881ORPHA14666423246608517
HP:0001270HP:0001270Motor delay1NAA10 CL E G H8260309800Lenz microphthalmia syndrome309800C0796016OMIM11029618704300013
HP:0001270HP:0001270Motor delay1NAA15 CL E G H80155617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50617787C4540470OMIM1326430782608000
HP:0001270HP:0001270Motor delay1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0001270HP:0001270Motor delay1NEB CL E G H4703171430ORPHA132130107720161650
HP:0001270HP:0001270Motor delay1NEB CL E G H4703171433ORPHA132130107720161650
HP:0001270HP:0001270Motor delay1NEB CL E G H4703171439ORPHA132130107720161650
HP:0001270HP:0001270Motor delay1NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132130107720161650
HP:0001270HP:0001270Motor delay1NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM1443767739162280
HP:0001270HP:0001270Motor delay1NEFL CL E G H4747617882CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G617882CN847583OMIM1443767739162280
HP:0001270HP:0001270Motor delay1NFIX CL E G H4784602535Marshall-Smith syndrome602535C0265211OMIM11041547788164005
HP:0001270HP:0001270Motor delay1NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0001270HP:0001270Motor delay1NKX2-1 CL E G H7080118700Benign hereditary chorea118700C0393584OMIM114313611825600635
HP:0001270HP:0001270Motor delay1NKX2-1 CL E G H7080610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress610978C1970269OMIM114313611825600635
HP:0001270HP:0001270Motor delay1NKX6-2 CL E G H84504617560SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY617560C4479653OMIM1910419321605955
HP:0001270HP:0001270Motor delay1NONO CL E G H4841300967Mental retardation, X-linked, syndromic 34300967C4225417OMIM141687871300084
HP:0001270HP:0001270Motor delay1NOTCH3 CL E G H4854130720Lehman syndrome130720C1851710OMIM13795917883600276
HP:0001270HP:0001270Motor delay1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0001270HP:0001270Motor delay1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM1141817989164790
HP:0001270HP:0001270Motor delay1NT5C2 CL E G H22978320396ORPHA181008022600417
HP:0001270HP:0001270Motor delay1NT5C2 CL E G H22978613162Spastic paraplegia 45, autosomal recessive613162C3888209OMIM181008022600417
HP:0001270HP:0001270Motor delay1OPA1 CL E G H4976210000Abortive cerebellar ataxia210000C0221061OMIM13944418140605290
HP:0001270HP:0001270Motor delay1PBX1 CL E G H5087617641CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY617641C4539968OMIM131388632176310
HP:0001270HP:0001270Motor delay1PCBD1 CL E G H5092264070Hyperphenylalaninemia, BH4-deficient, D264070C1849700OMIM111448646126090
HP:0001270HP:0001270Motor delay1PCDH15 CL E G H65217602083Usher syndrome, type 1F602083C1865885OMIM1122104914674605514
HP:0001270HP:0001270Motor delay1PDE10A CL E G H10846494526ORPHA15778772610652
HP:0001270HP:0001270Motor delay1PDE10A CL E G H10846616921Dyskinesia, limb and orofacial, infantile-onset616921C4310792OMIM15778772610652
HP:0001270HP:0001270Motor delay1PDX1 CL E G H365199885ORPHA133866107600733
HP:0001270HP:0001270Motor delay1PDX1 CL E G H3651606176Permanent neonatal diabetes mellitus606176C1833104OMIM133866107600733
HP:0001270HP:0001270Motor delay1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122840038614770
HP:0001270HP:0001270Motor delay1PHKA2 CL E G H5256306000Glycogen storage disease type IXa1306000C0017927OMIM11143588926300798
HP:0001270HP:0001270Motor delay1PHKG2 CL E G H5261613027Glycogen storage disease IXc613027C2751643OMIM1331208931172471
HP:0001270HP:0001270Motor delay1PLAGL1 CL E G H532599886ORPHA12299046603044
HP:0001270HP:0001270Motor delay1PLEC CL E G H5339613723Limb-girdle muscular dystrophy, type 2Q613723C3150989OMIM110427619069601282
HP:0001270HP:0001270Motor delay1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM1424409081153454
HP:0001270HP:0001270Motor delay1PLXND1 CL E G H23129570ORPHA181049107604282
HP:0001270HP:0001270Motor delay1PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM11653379118601097
HP:0001270HP:0001270Motor delay1PMP22 CL E G H5376180800Roussy-Lévy syndrome180800C0205713OMIM11653379118601097
HP:0001270HP:0001270Motor delay1PNKP CL E G H11284613402Early infantile epileptic encephalopathy 10613402C3150667OMIM1245179154605610
HP:0001270HP:0001270Motor delay1PNP CL E G H4860613179Purine-nucleoside phosphorylase deficiency613179C0268125OMIM1341397892164050
HP:0001270HP:0001270Motor delay1PNPLA2 CL E G H5710498908ORPHA14927730802609059
HP:0001270HP:0001270Motor delay1POMGNT1 CL E G H55624613151Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3613151C3150412OMIM18946119139606822
HP:0001270HP:0001270Motor delay1POMK CL E G H84197616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12616094C4015184OMIM1814826267615247
HP:0001270HP:0001270Motor delay1POMT1 CL E G H10585370980ORPHA1965089202607423
HP:0001270HP:0001270Motor delay1POMT1 CL E G H10585609308Limb-girdle muscular dystrophy-dystroglycanopathy, type C1609308C1836373OMIM1965089202607423
HP:0001270HP:0001270Motor delay1POMT2 CL E G H29954613156Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2613156C3150416OMIM17550219743607439
HP:0001270HP:0001270Motor delay1POMT2 CL E G H29954613158Limb-girdle muscular dystrophy-dystroglycanopathy, type C2613158C3150418OMIM17550219743607439
HP:0001270HP:0001270Motor delay1PREPL CL E G H9581616224Myasthenic syndrome, congenital, 22616224C4479088OMIM11827030228609557
HP:0001270HP:0001270Motor delay1PRKRA CL E G H8575612067Dystonia 16612067C2677567OMIM1111029438603424
HP:0001270HP:0001270Motor delay1PRPS1 CL E G H5631311070Charcot-Marie-Tooth disease, X-linked recessive, type 5311070C1839566OMIM1322599462311850
HP:0001270HP:0001270Motor delay1PRPS1 CL E G H5631300661Phosphoribosylpyrophosphate synthetase superactivity300661C1970827OMIM1322599462311850
HP:0001270HP:0001270Motor delay1PRX CL E G H57716614895Charcot-Marie-Tooth disease, demyelinating, type 4f614895C3540453OMIM16269913797605725
HP:0001270HP:0001270Motor delay1PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM16269913797605725
HP:0001270HP:0001270Motor delay1PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152920319585601309
HP:0001270HP:0001270Motor delay1PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1112819586603673
HP:0001270HP:0001270Motor delay1PTPRQ CL E G H374462613391Deafness, autosomal recessive 84613391C3150654OMIM134719679603317
HP:0001270HP:0001270Motor delay1PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM1123214957607204
HP:0001270HP:0001270Motor delay1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0001270HP:0001270Motor delay1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0001270HP:0001270Motor delay1RBM8A CL E G H9939274000Radial aplasia-thrombocytopenia syndrome274000C0175703OMIM1142059905605313
HP:0001270HP:0001270Motor delay1REV3L CL E G H5980570ORPHA191249968602776
HP:0001270HP:0001270Motor delay1RORA CL E G H6095618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA618060CN252646OMIM1153810258600825
HP:0001270HP:0001270Motor delay1RPS23 CL E G H6228617412MacInnes syndrome617412C4479431OMIM121310410603683
HP:0001270HP:0001270Motor delay1RPS6KA3 CL E G H6197300844Mental retardation, X-linked 19300844C0796225OMIM117130910432300075
HP:0001270HP:0001270Motor delay1RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM143929420616585
HP:0001270HP:0001270Motor delay1RUBCN CL E G H9711615705Spinocerebellar ataxia, autosomal recessive 15615705C3810326OMIM1410828991613516
HP:0001270HP:0001270Motor delay1RYR1 CL E G H626198905ORPHA1688309410483180901
HP:0001270HP:0001270Motor delay1RYR1 CL E G H6261597ORPHA1688309410483180901
HP:0001270HP:0001270Motor delay1RYR1 CL E G H6261324581ORPHA1688309410483180901
HP:0001270HP:0001270Motor delay1RYR1 CL E G H6261424107ORPHA1688309410483180901
HP:0001270HP:0001270Motor delay1RYR1 CL E G H6261169186ORPHA1688309410483180901
HP:0001270HP:0001270Motor delay1RYR1 CL E G H6261117000117000117000OMIM1688309410483180901
HP:0001270HP:0001270Motor delay1RYR1 CL E G H6261255320Minicore myopathy255320C1850674OMIM1688309410483180901
HP:0001270HP:0001270Motor delay1SAMD9 CL E G H54809617053Mirage syndrome617053C4284088OMIM127881348610456
HP:0001270HP:0001270Motor delay1SCN11A CL E G H11280615548Neuropathy, hereditary sensory and autonomic, type VII615548C3809882OMIM12045410583604385
HP:0001270HP:0001270Motor delay1SCN1A CL E G H6323607208Severe myoclonic epilepsy in infancy607208C0751122OMIM11611217210585182389
HP:0001270HP:0001270Motor delay1SCN4A CL E G H6329614198Congenital myasthenic syndrome, acetazolamide-responsive614198C3502630OMIM112984810591603967
HP:0001270HP:0001270Motor delay1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1510110603603644
HP:0001270HP:0001270Motor delay1SCO2 CL E G H9997521411ORPHA13727510604604272
HP:0001270HP:0001270Motor delay1SCYL1 CL E G H57410616719Spinocerebellar ataxia, autosomal recessive 21616719C4225236OMIM1115714372607982
HP:0001270HP:0001270Motor delay1SDHA CL E G H63893208ORPHA191127910680600857
HP:0001270HP:0001270Motor delay1SDHAF1 CL E G H6440963208ORPHA164033867612848
HP:0001270HP:0001270Motor delay1SDHB CL E G H63903208ORPHA127966710681185470
HP:0001270HP:0001270Motor delay1SDHD CL E G H63923208ORPHA117436110683602690
HP:0001270HP:0001270Motor delay1SELENON CL E G H571902020ORPHA16335415999606210
HP:0001270HP:0001270Motor delay1SELENON CL E G H57190602771Eichsfeld type congenital muscular dystrophy602771C0410180OMIM16335415999606210
HP:0001270HP:0001270Motor delay1SETBP1 CL E G H26040616078Mental retardation, autosomal dominant 29616078C4015141OMIM14721215573611060
HP:0001270HP:0001270Motor delay1SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM1102109229427608206
HP:0001270HP:0001270Motor delay1SHANK3 CL E G H8535860623222q13.3 deletion syndrome606232C1853490OMIM119436614294606230
HP:0001270HP:0001270Motor delay1SLC12A6 CL E G H9990218000Andermann syndrome218000C0795950OMIM12038710914604878
HP:0001270HP:0001270Motor delay1SLC1A3 CL E G H6507612656Episodic ataxia, type 6612656C2675211OMIM11814510941600111
HP:0001270HP:0001270Motor delay1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0001270HP:0001270Motor delay1SLC9A1 CL E G H6548616291Lichtenstein-knorr syndrome616291C4225383OMIM174511071107310
HP:0001270HP:0001270Motor delay1SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM18824411102606622
HP:0001270HP:0001270Motor delay1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0001270HP:0001270Motor delay1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0001270HP:0001270Motor delay1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0001270HP:0001270Motor delay1SOX5 CL E G H6660313892ORPHA12914611201604975
HP:0001270HP:0001270Motor delay1SP7 CL E G H121340613849Osteogenesis imperfecta type 12613849C3151433OMIM133817321606633
HP:0001270HP:0001270Motor delay1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM153411219182120
HP:0001270HP:0001270Motor delay1SPART CL E G H23111101000ORPHA1718318514607111
HP:0001270HP:0001270Motor delay1SPART CL E G H23111275900Troyer syndrome275900C0393559OMIM1718318514607111
HP:0001270HP:0001270Motor delay1SPEG CL E G H10290169186ORPHA11319816901615950
HP:0001270HP:0001270Motor delay1SPEG CL E G H10290615959Myopathy, centronuclear, 5615959C4014814OMIM11319816901615950
HP:0001270HP:0001270Motor delay1SPR CL E G H669770594ORPHA12510011257182125
HP:0001270HP:0001270Motor delay1SRD5A3 CL E G H79644612379Congenital disorder of glycosylation type 1Q612379C3150191OMIM11613925812611715
HP:0001270HP:0001270Motor delay1SRD5A3 CL E G H79644612713Kahrizi syndrome612713C2675185OMIM11613925812611715
HP:0001270HP:0001270Motor delay1STAC3 CL E G H246329255995Native American myopathy255995C1850625OMIM149028423615521
HP:0001270HP:0001270Motor delay1STAT3 CL E G H677499885ORPHA115529111364102582
HP:0001270HP:0001270Motor delay1SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14753316466607035
HP:0001270HP:0001270Motor delay1SYNGAP1 CL E G H8831612621Mental retardation, autosomal dominant 5612621C2675473OMIM18651711497603384
HP:0001270HP:0001270Motor delay1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM135724316612958
HP:0001270HP:0001270Motor delay1TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM115840011577300394
HP:0001270HP:0001270Motor delay1TCF4 CL E G H6925610954Pitt-Hopkins syndrome610954C1970431OMIM114862411634602272
HP:0001270HP:0001270Motor delay1TENT5A CL E G H55603617952OSTEOGENESIS IMPERFECTA, TYPE XVIII617952CN244563OMIM142518345611357
HP:0001270HP:0001270Motor delay1TH CL E G H7054101150ORPHA17734511782191290
HP:0001270HP:0001270Motor delay1TH CL E G H7054605407Segawa syndrome, autosomal recessive605407C1854299OMIM17734511782191290
HP:0001270HP:0001270Motor delay1TK2 CL E G H7084254875ORPHA16020611831188250
HP:0001270HP:0001270Motor delay1TLK2 CL E G H11011618050MENTAL RETARDATION, AUTOSOMAL DOMINANT 57618050CN252334OMIM1396411842608439
HP:0001270HP:0001270Motor delay1TMCO1 CL E G H54499213980Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980C1859252OMIM153318188614123
HP:0001270HP:0001270Motor delay1TNFRSF11A CL E G H8792612301Osteopetrosis autosomal recessive 7612301C2676766OMIM12621611908603499
HP:0001270HP:0001270Motor delay1TNNT1 CL E G H713898902ORPHA1815611948191041
HP:0001270HP:0001270Motor delay1TPM2 CL E G H7169171439ORPHA14019912011190990
HP:0001270HP:0001270Motor delay1TPM2 CL E G H71692020ORPHA14019912011190990
HP:0001270HP:0001270Motor delay1TPM2 CL E G H7169171881ORPHA14019912011190990
HP:0001270HP:0001270Motor delay1TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM14019912011190990
HP:0001270HP:0001270Motor delay1TPM3 CL E G H71702020ORPHA12822512012191030
HP:0001270HP:0001270Motor delay1TPM3 CL E G H7170171439ORPHA12822512012191030
HP:0001270HP:0001270Motor delay1TPM3 CL E G H7170171881ORPHA12822512012191030
HP:0001270HP:0001270Motor delay1TPM3 CL E G H7170171433ORPHA12822512012191030
HP:0001270HP:0001270Motor delay1TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM12822512012191030
HP:0001270HP:0001270Motor delay1TRIO CL E G H7204617061Mental retardation, autosomal dominant 44617061C4310740OMIM13230812303601893
HP:0001270HP:0001270Motor delay1TRIP11 CL E G H9321184260Goldblatt hypertension184260C0018036OMIM11731512305604505
HP:0001270HP:0001270Motor delay1TRIP4 CL E G H9325486815ORPHA134812310604501
HP:0001270HP:0001270Motor delay1TRIP4 CL E G H9325617066Muscular dystrophy, congenital, davignon-chauveau type617066C4310736OMIM134812310604501
HP:0001270HP:0001270Motor delay1TRMT10A CL E G H93587616033Microcephaly, short stature, and impaired glucose metabolism 1616033C4014997OMIM182928403616013
HP:0001270HP:0001270Motor delay1TRPV4 CL E G H59341181405Scapuloperoneal spinal muscular atrophy181405C0751335OMIM18253918083605427
HP:0001270HP:0001270Motor delay1TRPV6 CL E G H55503618188HYPERPARATHYROIDISM, TRANSIENT NEONATAL618188OMIM1116814006606680
HP:0001270HP:0001270Motor delay1TSHR CL E G H7253424ORPHA116117812373603372
HP:0001270HP:0001270Motor delay1TSHR CL E G H725399819ORPHA116117812373603372
HP:0001270HP:0001270Motor delay1TSHR CL E G H7253609152Hyperthyroidism, nonautoimmune609152C1836706OMIM116117812373603372
HP:0001270HP:0001270Motor delay1TTN CL E G H7273169186ORPHA13461438512403188840
HP:0001270HP:0001270Motor delay1TTN CL E G H7273611705Myopathy, early-onset, with fatal cardiomyopathy611705C2673677OMIM13461438512403188840
HP:0001270HP:0001270Motor delay1TUBA1A CL E G H7846611603Lissencephaly 3611603C1969029OMIM16819020766602529
HP:0001270HP:0001270Motor delay1TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM183320778191130
HP:0001270HP:0001270Motor delay1TUBB2B CL E G H347733610031Polymicrogyria, asymmetric610031C2750247OMIM13011430829612850
HP:0001270HP:0001270Motor delay1TUBB4A CL E G H10382612438Leukodystrophy, hypomyelinating, 6612438C2676244OMIM14213920774602662
HP:0001270HP:0001270Motor delay1UBE3A CL E G H7337105830Angelman syndrome105830C0162635OMIM120275912496601623
HP:0001270HP:0001270Motor delay1USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM15147712597605242
HP:0001270HP:0001270Motor delay1VDR CL E G H7421277440Vitamin D-dependent rickets, type 2277440C0342646OMIM17118412679601769
HP:0001270HP:0001270Motor delay