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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001270HP:0001270Motor delay0AARS2 CL E G H5750521022OMIM:614096Combined oxidative phosphorylation deficiency 8143
HP:0001270HP:0001270Motor delay0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0001270HP:0001270Motor delay0ABCC8 CL E G H683359OMIM:618857DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3245
HP:0001270HP:0001270Motor delay0ABCC8 CL E G H683359ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent245
HP:0001270HP:0001270Motor delay0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0001270HP:0001270Motor delay0ACAT1 CL E G H3893ORPHA:134Beta-ketothiolase deficiencyHP:0040283 - Occasional91
HP:0001270HP:0001270Motor delay0ACBD5 CL E G H9145223338OMIM:618863RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD1
HP:0001270HP:0001270Motor delay0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0001270HP:0001270Motor delay0ACTA1 CL E G H58129ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent96
HP:0001270HP:0001270Motor delay0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0001270HP:0001270Motor delay0ACTA1 CL E G H58129ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent96
HP:0001270HP:0001270Motor delay0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0001270HP:0001270Motor delay0ACTA1 CL E G H58129ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent96
HP:0001270HP:0001270Motor delay0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset72
HP:0001270HP:0001270Motor delay0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0001270HP:0001270Motor delay0ADA CL E G H100186OMIM:102700Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency75
HP:0001270HP:0001270Motor delay0ADA2 CL E G H518161839ORPHA:820Sneddon syndromeHP:0040282 - Frequent22
HP:0001270HP:0001270Motor delay0ADAMTS2 CL E G H9509218OMIM:225410Ehlers-Danlos syndrome, type VII, autosomal recessive.165
HP:0001270HP:0001270Motor delay0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0001270HP:0001270Motor delay0ADCY5 CL E G H111236OMIM:619647DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR25
HP:0001270HP:0001270Motor delay0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymiaHP:0040283 - Occasional25
HP:0001270HP:0001270Motor delay0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymia25
HP:0001270HP:0001270Motor delay0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0001270HP:0001270Motor delay0ADGRG1 CL E G H92894512ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040281 - Very frequent88
HP:0001270HP:0001270Motor delay0ADGRL1 CL E G H2285920973OMIM:620065
HP:0001270HP:0001270Motor delay0AEBP1 CL E G H165303ORPHA:536532Classical-like Ehlers-Danlos syndrome type 2HP:0040283 - Occasional
HP:0001270HP:0001270Motor delay0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0001270HP:0001270Motor delay0AGO2 CL E G H271613263OMIM:619149LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001270HP:0001270Motor delay0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0001270HP:0001270Motor delay0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0001270HP:0001270Motor delay0AGTPBP1 CL E G H2328717258OMIM:618276Neurodegeneration, childhood-onset, with cerebellar atrophy.1
HP:0001270HP:0001270Motor delay0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0001270HP:0001270Motor delay0AHCY CL E G H191343OMIM:613752HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY.31
HP:0001270HP:0001270Motor delay0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040281 - Very frequent36
HP:0001270HP:0001270Motor delay0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0001270HP:0001270Motor delay0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0001270HP:0001270Motor delay0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0001270HP:0001270Motor delay0ALDH18A1 CL E G H58329722ORPHA:90348Autosomal dominant cutis laxa89
HP:0001270HP:0001270Motor delay0ALDH18A1 CL E G H58329722ORPHA:447760Autosomal recessive spastic paraplegia type 9BHP:0040282 - Frequent89
HP:0001270HP:0001270Motor delay0ALDH5A1 CL E G H7915408OMIM:271980Succinic semialdehyde dehydrogenase deficiency108
HP:0001270HP:0001270Motor delay0ALDOA CL E G H226414ORPHA:57Glycogen storage disease due to aldolase A deficiencyHP:0040283 - Occasional50
HP:0001270HP:0001270Motor delay0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDG68
HP:0001270HP:0001270Motor delay0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent12
HP:0001270HP:0001270Motor delay0ALG2 CL E G H8536523159OMIM:607906Congenital disorder of glycosylation, type Ii46
HP:0001270HP:0001270Motor delay0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent46
HP:0001270HP:0001270Motor delay0ALG2 CL E G H8536523159OMIM:616228Myasthenic syndrome, congenital, 14HP:0040283 - Occasional46
HP:0001270HP:0001270Motor delay0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0001270HP:0001270Motor delay0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0001270HP:0001270Motor delay0ALS2 CL E G H57679443OMIM:607225Spastic paralysis, infantile-onset ascending.114
HP:0001270HP:0001270Motor delay0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndrome25
HP:0001270HP:0001270Motor delay0AMPD2 CL E G H271469ORPHA:401805Autosomal recessive spastic paraplegia type 6321
HP:0001270HP:0001270Motor delay0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0001270HP:0001270Motor delay0ANAPC7 CL E G H5143417380OMIM:619699FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001270HP:0001270Motor delay0ANKRD17 CL E G H2605723575OMIM:619504CHOPRA-AMIEL-GORDON SYNDROME; CAGS2
HP:0001270HP:0001270Motor delay0ANTXR1 CL E G H8416821014OMIM:230740Gapo syndromeHP:0040284 - Very rare8
HP:0001270HP:0001270Motor delay0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0001270HP:0001270Motor delay0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0001270HP:0001270Motor delay0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0001270HP:0001270Motor delay0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0001270HP:0001270Motor delay0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0001270HP:0001270Motor delay0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0001270HP:0001270Motor delay0ARID2 CL E G H19652818037OMIM:617808Coffin-siris syndrome 6.25
HP:0001270HP:0001270Motor delay0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0001270HP:0001270Motor delay0ARPC4 CL E G H10093707OMIM:620141
HP:0001270HP:0001270Motor delay0ASAH1 CL E G H427735OMIM:228000Farber lipogranulomatosis.78
HP:0001270HP:0001270Motor delay0ASPA CL E G H443756ORPHA:314918Mild Canavan diseaseHP:0040282 - Frequent48
HP:0001270HP:0001270Motor delay0ASPA CL E G H443756ORPHA:314911Severe Canavan diseaseHP:0040281 - Very frequent48
HP:0001270HP:0001270Motor delay0ASPM CL E G H25926619048OMIM:608716Microcephaly 5, primary, autosomal recessive.512
HP:0001270HP:0001270Motor delay0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0001270HP:0001270Motor delay0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 251
HP:0001270HP:0001270Motor delay0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0001270HP:0001270Motor delay0ATL1 CL E G H5106211231ORPHA:100984Autosomal dominant spastic paraplegia type 3HP:0040283 - Occasional71
HP:0001270HP:0001270Motor delay0ATL1 CL E G H5106211231OMIM:182600Spastic paraplegia 3, autosomal dominant.71
HP:0001270HP:0001270Motor delay0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0001270HP:0001270Motor delay0ATP1A1 CL E G H476799ORPHA:564178Primary hypomagnesemia with refractory seizures and intellectual disability4
HP:0001270HP:0001270Motor delay0ATP1A3 CL E G H478801ORPHA:71517Rapid-onset dystonia-parkinsonismHP:0040282 - Frequent150
HP:0001270HP:0001270Motor delay0ATP2A1 CL E G H487811OMIM:601003BRODY MYOPATHY80
HP:0001270HP:0001270Motor delay0ATP2B3 CL E G H492816OMIM:302500Spinocerebellar ataxia, X-linked 1.19
HP:0001270HP:0001270Motor delay0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0001270HP:0001270Motor delay0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0001270HP:0001270Motor delay0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040282 - Frequent36
HP:0001270HP:0001270Motor delay0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0001270HP:0001270Motor delay0ATP6V0A2 CL E G H2354518481ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent140
HP:0001270HP:0001270Motor delay0ATP6V0A2 CL E G H2354518481OMIM:219200Cutis laxa, autosomal recessive, type IIA.140
HP:0001270HP:0001270Motor delay0ATP6V1A CL E G H523851ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent3
HP:0001270HP:0001270Motor delay0ATP6V1A CL E G H523851OMIM:617403Cutis laxa, autosomal recessive, type IID.3
HP:0001270HP:0001270Motor delay0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0001270HP:0001270Motor delay0ATP6V1E1 CL E G H529857ORPHA:357074Autosomal recessive cutis laxa type 2, classic typeHP:0040281 - Very frequent2
HP:0001270HP:0001270Motor delay0ATXN7 CL E G H631410560ORPHA:94147Spinocerebellar ataxia type 7HP:0040282 - Frequent8
HP:0001270HP:0001270Motor delay0AUH CL E G H549890OMIM:2509503-methylglutaconic aciduria, type I.49
HP:0001270HP:0001270Motor delay0AUTS2 CL E G H2605314262OMIM:615834Mental retardation, autosomal dominant 2661
HP:0001270HP:0001270Motor delay0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0001270HP:0001270Motor delay0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0001270HP:0001270Motor delay0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0001270HP:0001270Motor delay0BAP1 CL E G H8314950OMIM:619762KURY-ISIDOR SYNDROME; KURIS184
HP:0001270HP:0001270Motor delay0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0001270HP:0001270Motor delay0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES3
HP:0001270HP:0001270Motor delay0BCOR CL E G H5488020893OMIM:309800Microphthalmia, syndromic 1101
HP:0001270HP:0001270Motor delay0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0001270HP:0001270Motor delay0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0001270HP:0001270Motor delay0BICD2 CL E G H2329917208ORPHA:363454BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophyHP:0040283 - Occasional46
HP:0001270HP:0001270Motor delay0BICD2 CL E G H2329917208OMIM:615290Spinal muscular atrophy, lower extremity-predominant, 2, autosomaldominant.46
HP:0001270HP:0001270Motor delay0BICD2 CL E G H2329917208OMIM:618291Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant.46
HP:0001270HP:0001270Motor delay0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathy99
HP:0001270HP:0001270Motor delay0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040282 - Frequent99
HP:0001270HP:0001270Motor delay0BIN1 CL E G H2741052OMIM:255200Myopathy, centronuclear, 2.99
HP:0001270HP:0001270Motor delay0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIII49
HP:0001270HP:0001270Motor delay0BMPR1A CL E G H6571076ORPHA:79076Juvenile polyposis of infancyHP:0040283 - Occasional385
HP:0001270HP:0001270Motor delay0BPTF CL E G H21863581OMIM:617755NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL2
HP:0001270HP:0001270Motor delay0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0001270HP:0001270Motor delay0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis10
HP:0001270HP:0001270Motor delay0BSND CL E G H780916512OMIM:602522Bartter syndrome, type 4A, neonatal, with sensorineural deafness.53
HP:0001270HP:0001270Motor delay0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent53
HP:0001270HP:0001270Motor delay0CACNA1C CL E G H7751390OMIM:620029572
HP:0001270HP:0001270Motor delay0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0001270HP:0001270Motor delay0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0001270HP:0001270Motor delay0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0001270HP:0001270Motor delay0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0001270HP:0001270Motor delay0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001270HP:0001270Motor delay0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0001270HP:0001270Motor delay0CCDC134 CL E G H7987926185OMIM:619795OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0001270HP:0001270Motor delay0CCDC78 CL E G H12409314153OMIM:614807Myopathy, centronuclear, 425
HP:0001270HP:0001270Motor delay0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0001270HP:0001270Motor delay0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome2
HP:0001270HP:0001270Motor delay0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001270HP:0001270Motor delay0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0001270HP:0001270Motor delay0CDK5 CL E G H10201774OMIM:616342Lissencephaly 7 with cerebellar hypoplasia3
HP:0001270HP:0001270Motor delay0CDK8 CL E G H10241779OMIM:618748INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001270HP:0001270Motor delay0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndrome405
HP:0001270HP:0001270Motor delay0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorder405
HP:0001270HP:0001270Motor delay0CDKN1C CL E G H10281786ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent114
HP:0001270HP:0001270Motor delay0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0001270HP:0001270Motor delay0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0001270HP:0001270Motor delay0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0001270HP:0001270Motor delay0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional65
HP:0001270HP:0001270Motor delay0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome2
HP:0001270HP:0001270Motor delay0CHD5 CL E G H2603816816OMIM:619873
HP:0001270HP:0001270Motor delay0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0001270HP:0001270Motor delay0CHD8 CL E G H5768020153OMIM:615032AUTISM, SUSCEPTIBILITY TO, 18; AUTS1872
HP:0001270HP:0001270Motor delay0CHKA CL E G H11191937OMIM:620023
HP:0001270HP:0001270Motor delay0CHKB CL E G H11201938OMIM:602541Muscular dystrophy, congenital, Megaconial type.53
HP:0001270HP:0001270Motor delay0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0001270HP:0001270Motor delay0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0001270HP:0001270Motor delay0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0001270HP:0001270Motor delay0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0001270HP:0001270Motor delay0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0001270HP:0001270Motor delay0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel88
HP:0001270HP:0001270Motor delay0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency88
HP:0001270HP:0001270Motor delay0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0001270HP:0001270Motor delay0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0001270HP:0001270Motor delay0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0001270HP:0001270Motor delay0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 1.27
HP:0001270HP:0001270Motor delay0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndrome27
HP:0001270HP:0001270Motor delay0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasiaHP:0040282 - Frequent165
HP:0001270HP:0001270Motor delay0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0001270HP:0001270Motor delay0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0001270HP:0001270Motor delay0CIB2 CL E G H1051824579OMIM:614869Usher syndrome, type IJ.15
HP:0001270HP:0001270Motor delay0CIC CL E G H2315214214OMIM:617600Mental retardation, autosomal dominant 4539
HP:0001270HP:0001270Motor delay0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0001270HP:0001270Motor delay0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0001270HP:0001270Motor delay0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0001270HP:0001270Motor delay0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development102
HP:0001270HP:0001270Motor delay0CLCNKA CL E G H11872026OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.9
HP:0001270HP:0001270Motor delay0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent9
HP:0001270HP:0001270Motor delay0CLCNKB CL E G H11882027OMIM:613090Bartter syndrome, type 4B, neonatal, with sensorineural deafness.27
HP:0001270HP:0001270Motor delay0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent27
HP:0001270HP:0001270Motor delay0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0001270HP:0001270Motor delay0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 107
HP:0001270HP:0001270Motor delay0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 738
HP:0001270HP:0001270Motor delay0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0001270HP:0001270Motor delay0CNOT1 CL E G H230197877OMIM:619033VISSERS-BODMER SYNDROME; VIBOS2
HP:0001270HP:0001270Motor delay0CNOT2 CL E G H48487878OMIM:618608INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES; IDNADFS2
HP:0001270HP:0001270Motor delay0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0001270HP:0001270Motor delay0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0001270HP:0001270Motor delay0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1518
HP:0001270HP:0001270Motor delay0COA8 CL E G H8433420492ORPHA:436271Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathyHP:0040282 - Frequent
HP:0001270HP:0001270Motor delay0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0001270HP:0001270Motor delay0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0001270HP:0001270Motor delay0COG5 CL E G H1046614857ORPHA:263487COG5-CDGHP:0040281 - Very frequent79
HP:0001270HP:0001270Motor delay0COG5 CL E G H1046614857OMIM:613612CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi; CDG2I79
HP:0001270HP:0001270Motor delay0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0001270HP:0001270Motor delay0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040282 - Frequent65
HP:0001270HP:0001270Motor delay0COL12A1 CL E G H13032188OMIM:616470ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD265
HP:0001270HP:0001270Motor delay0COL13A1 CL E G H13052190OMIM:616720Myasthenic syndrome, congenital, 19HP:0040283 - Occasional6
HP:0001270HP:0001270Motor delay0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0001270HP:0001270Motor delay0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0001270HP:0001270Motor delay0COL1A1 CL E G H12772197ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional373
HP:0001270HP:0001270Motor delay0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0001270HP:0001270Motor delay0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2243
HP:0001270HP:0001270Motor delay0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia.284
HP:0001270HP:0001270Motor delay0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0001270HP:0001270Motor delay0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0001270HP:0001270Motor delay0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndromeHP:0040284 - Very rare749
HP:0001270HP:0001270Motor delay0COL5A1 CL E G H12892209ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional660
HP:0001270HP:0001270Motor delay0COL5A2 CL E G H12902210ORPHA:287Classical Ehlers-Danlos syndromeHP:0040283 - Occasional325
HP:0001270HP:0001270Motor delay0COL6A1 CL E G H12912211OMIM:158810Bethlem myopathy 1.442
HP:0001270HP:0001270Motor delay0COL6A1 CL E G H12912211OMIM:254090Ullrich congenital muscular dystrophy 1.442
HP:0001270HP:0001270Motor delay0COL6A2 CL E G H12922212OMIM:158810Bethlem myopathy 1.478
HP:0001270HP:0001270Motor delay0COL6A2 CL E G H12922212OMIM:254090Ullrich congenital muscular dystrophy 1.478
HP:0001270HP:0001270Motor delay0COL6A3 CL E G H12932213OMIM:158810Bethlem myopathy 1.702
HP:0001270HP:0001270Motor delay0COL6A3 CL E G H12932213OMIM:254090Ullrich congenital muscular dystrophy 1.702
HP:0001270HP:0001270Motor delay0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0001270HP:0001270Motor delay0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0001270HP:0001270Motor delay0COQ7 CL E G H102292244OMIM:616733Coenzyme Q10 deficiency, primary, 8.1
HP:0001270HP:0001270Motor delay0COX1 CL E G H45127419ORPHA:550MELASHP:0040283 - Occasional
HP:0001270HP:0001270Motor delay0COX10 CL E G H13522260OMIM:619046MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN382
HP:0001270HP:0001270Motor delay0COX2 CL E G H45137421ORPHA:550MELASHP:0040283 - Occasional
HP:0001270HP:0001270Motor delay0COX3 CL E G H45147422ORPHA:550MELASHP:0040283 - Occasional
HP:0001270HP:0001270Motor delay0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0001270HP:0001270Motor delay0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 631
HP:0001270HP:0001270Motor delay0CPLX1 CL E G H108152309ORPHA:352582Familial infantile myoclonic epilepsyHP:0040283 - Occasional1
HP:0001270HP:0001270Motor delay0CPSF3 CL E G H516922326OMIM:619876
HP:0001270HP:0001270Motor delay0CRAT CL E G H13842342OMIM:617917Neurodegeneration with brain iron accumulation 8.
HP:0001270HP:0001270Motor delay0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0001270HP:0001270Motor delay0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0001270HP:0001270Motor delay0CRPPA CL E G H72992037276ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent
HP:0001270HP:0001270Motor delay0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001270HP:0001270Motor delay0CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0001270HP:0001270Motor delay0CTBP1 CL E G H14872494OMIM:617915Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome.2
HP:0001270HP:0001270Motor delay0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0001270HP:0001270Motor delay0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0001270HP:0001270Motor delay0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0001270HP:0001270Motor delay0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040281 - Very frequent88
HP:0001270HP:0001270Motor delay0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndrome273
HP:0001270HP:0001270Motor delay0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0001270HP:0001270Motor delay0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type38
HP:0001270HP:0001270Motor delay0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0001270HP:0001270Motor delay0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0001270HP:0001270Motor delay0CYP27B1 CL E G H15942606ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent41
HP:0001270HP:0001270Motor delay0CYP27B1 CL E G H15942606OMIM:264700Vitamin D hydroxylation-deficient rickets, type 1A.41
HP:0001270HP:0001270Motor delay0CYP2R1 CL E G H12022720580ORPHA:289157Hypocalcemic vitamin D-dependent ricketsHP:0040281 - Very frequent5
HP:0001270HP:0001270Motor delay0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive.18
HP:0001270HP:0001270Motor delay0CYP3A4 CL E G H15762637OMIM:619073VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR32
HP:0001270HP:0001270Motor delay0DAG1 CL E G H16052666ORPHA:280333Alpha-dystroglycan-related limb-girdle muscular dystrophy R16HP:0040282 - Frequent108
HP:0001270HP:0001270Motor delay0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0001270HP:0001270Motor delay0DARS1 CL E G H16152678OMIM:615281HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY; HBSL
HP:0001270HP:0001270Motor delay0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040283 - Occasional60
HP:0001270HP:0001270Motor delay0DARS2 CL E G H5515725538OMIM:611105Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation.60
HP:0001270HP:0001270Motor delay0DCX CL E G H16412714OMIM:300067Lissencephaly, X-linked, 1.145
HP:0001270HP:0001270Motor delay0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR62
HP:0001270HP:0001270Motor delay0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001270HP:0001270Motor delay0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language4
HP:0001270HP:0001270Motor delay0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency82
HP:0001270HP:0001270Motor delay0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiency82
HP:0001270HP:0001270Motor delay0DLG3 CL E G H17412902OMIM:300850MENTAL RETARDATION, X-LINKED 90; MRX9030
HP:0001270HP:0001270Motor delay0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation1
HP:0001270HP:0001270Motor delay0DLK1 CL E G H87882907ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0001270HP:0001270Motor delay0DLK1 CL E G H87882907ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent1
HP:0001270HP:0001270Motor delay0DLK1 CL E G H87882907ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0001270HP:0001270Motor delay0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0001270HP:0001270Motor delay0DMD CL E G H17562928ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent1496
HP:0001270HP:0001270Motor delay0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0001270HP:0001270Motor delay0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxia25
HP:0001270HP:0001270Motor delay0DNASE2 CL E G H17772960OMIM:619858
HP:0001270HP:0001270Motor delay0DNM1L CL E G H100592973OMIM:614388Encephalopathy due to defective mitochondrial and peroxisomal fission 194
HP:0001270HP:0001270Motor delay0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathy167
HP:0001270HP:0001270Motor delay0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant.167
HP:0001270HP:0001270Motor delay0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0001270HP:0001270Motor delay0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0001270HP:0001270Motor delay0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0001270HP:0001270Motor delay0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent38
HP:0001270HP:0001270Motor delay0DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates.38
HP:0001270HP:0001270Motor delay0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0001270HP:0001270Motor delay0DPH2 CL E G H18023004OMIM:620062
HP:0001270HP:0001270Motor delay0DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0001270HP:0001270Motor delay0DPYD CL E G H18063012OMIM:274270Dihydropyrimidine dehydrogenase deficiency.144
HP:0001270HP:0001270Motor delay0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001270HP:0001270Motor delay0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 213
HP:0001270HP:0001270Motor delay0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndrome13
HP:0001270HP:0001270Motor delay0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0001270HP:0001270Motor delay0DYNC1H1 CL E G H17782961OMIM:614228Charcot-marie-tooth disease, axonal, type 2O.427
HP:0001270HP:0001270Motor delay0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant427
HP:0001270HP:0001270Motor delay0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0001270HP:0001270Motor delay0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040282 - Frequent134
HP:0001270HP:0001270Motor delay0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0001270HP:0001270Motor delay0EFEMP2 CL E G H300083219ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent45
HP:0001270HP:0001270Motor delay0EGR2 CL E G H19593239OMIM:145900Hypertrophic neuropathy of dejerine-sottas.58
HP:0001270HP:0001270Motor delay0EGR2 CL E G H19593239OMIM:605253Neuropathy, congenital hypomyelinating, 1, autosomal recessive.58
HP:0001270HP:0001270Motor delay0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0001270HP:0001270Motor delay0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0001270HP:0001270Motor delay0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0001270HP:0001270Motor delay0ELN CL E G H20063327ORPHA:90348Autosomal dominant cutis laxa172
HP:0001270HP:0001270Motor delay0ELOVL1 CL E G H6483414418OMIM:618527Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0001270HP:0001270Motor delay0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0001270HP:0001270Motor delay0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0001270HP:0001270Motor delay0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2250
HP:0001270HP:0001270Motor delay0EPG5 CL E G H5772429331OMIM:242840Vici syndrome.40
HP:0001270HP:0001270Motor delay0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0001270HP:0001270Motor delay0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive18
HP:0001270HP:0001270Motor delay0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0001270HP:0001270Motor delay0EXOSC2 CL E G H2340417097OMIM:617763Short stature, hearing loss, retinitis pigmentosa, and distinctive facies.
HP:0001270HP:0001270Motor delay0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0001270HP:0001270Motor delay0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0001270HP:0001270Motor delay0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0001270HP:0001270Motor delay0EXT2 CL E G H21323513OMIM:616682Seizures, scoliosis, and macrocephaly/microcephaly syndrome.102
HP:0001270HP:0001270Motor delay0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0001270HP:0001270Motor delay0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040281 - Very frequent3
HP:0001270HP:0001270Motor delay0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0001270HP:0001270Motor delay0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0001270HP:0001270Motor delay0FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0001270HP:0001270Motor delay0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0001270HP:0001270Motor delay0FBLN5 CL E G H105163602ORPHA:90348Autosomal dominant cutis laxa63
HP:0001270HP:0001270Motor delay0FBLN5 CL E G H105163602ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent63
HP:0001270HP:0001270Motor delay0FBN1 CL E G H22003603OMIM:616914Marfan lipodystrophy syndrome1361
HP:0001270HP:0001270Motor delay0FBN1 CL E G H22003603ORPHA:284979Neonatal Marfan syndromeHP:0040281 - Very frequent1361
HP:0001270HP:0001270Motor delay0FBN2 CL E G H22013604OMIM:121050Contractural arachnodactyly, congenital.655
HP:0001270HP:0001270Motor delay0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0001270HP:0001270Motor delay0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7
HP:0001270HP:0001270Motor delay0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001270HP:0001270Motor delay0FDX2 CL E G H11281230546OMIM:251900Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy.
HP:0001270HP:0001270Motor delay0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0001270HP:0001270Motor delay0FGD4 CL E G H12151219125OMIM:609311Charcot-marie-tooth disease, type 4H158
HP:0001270HP:0001270Motor delay0FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia18
HP:0001270HP:0001270Motor delay0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0001270HP:0001270Motor delay0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyria111
HP:0001270HP:0001270Motor delay0FIG4 CL E G H989616873OMIM:611228Charcot-Marie-Tooth disease, type 4JHP:0040283 - Occasional111
HP:0001270HP:0001270Motor delay0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0001270HP:0001270Motor delay0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 2.13
HP:0001270HP:0001270Motor delay0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040281 - Very frequent13
HP:0001270HP:0001270Motor delay0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent157
HP:0001270HP:0001270Motor delay0FKRP CL E G H7914717997ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent157
HP:0001270HP:0001270Motor delay0FKRP CL E G H7914717997ORPHA:34515FKRP-related limb-girdle muscular dystrophy R9HP:0040283 - Occasional157
HP:0001270HP:0001270Motor delay0FKRP CL E G H7914717997OMIM:613153MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5.157
HP:0001270HP:0001270Motor delay0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5157
HP:0001270HP:0001270Motor delay0FKTN CL E G H22183622ORPHA:370980Congenital muscular dystrophy without intellectual disabilityHP:0040282 - Frequent184
HP:0001270HP:0001270Motor delay0FKTN CL E G H22183622OMIM:613152MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4.184
HP:0001270HP:0001270Motor delay0FKTN CL E G H22183622OMIM:611588Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4.184
HP:0001270HP:0001270Motor delay0FLNA CL E G H23163754OMIM:309350Melnick-Needles syndrome.493
HP:0001270HP:0001270Motor delay0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome
HP:0001270HP:0001270Motor delay0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0001270HP:0001270Motor delay0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndrome111
HP:0001270HP:0001270Motor delay0FMR1 CL E G H23323775ORPHA:449291Symptomatic form of fragile X syndrome in female carriersHP:0040283 - Occasional30
HP:0001270HP:0001270Motor delay0FNIP1 CL E G H9645929418OMIM:619705IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD931
HP:0001270HP:0001270Motor delay0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant.177
HP:0001270HP:0001270Motor delay0FOXP1 CL E G H270863823ORPHA:391372Intellectual disability-severe speech delay-mild dysmorphism syndromeHP:0040282 - Frequent184
HP:0001270HP:0001270Motor delay0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0001270HP:0001270Motor delay0FRMD5 CL E G H8497828214OMIM:620094
HP:0001270HP:0001270Motor delay0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0001270HP:0001270Motor delay0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0001270HP:0001270Motor delay0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0001270HP:0001270Motor delay0FXR1 CL E G H80874023OMIM:618823MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001270HP:0001270Motor delay0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001270HP:0001270Motor delay0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0001270HP:0001270Motor delay0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040282 - Frequent407
HP:0001270HP:0001270Motor delay0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndrome5
HP:0001270HP:0001270Motor delay0GABRA5 CL E G H25584079OMIM:618559DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0001270HP:0001270Motor delay0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0001270HP:0001270Motor delay0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency52
HP:0001270HP:0001270Motor delay0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040283 - Occasional23
HP:0001270HP:0001270Motor delay0GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0001270HP:0001270Motor delay0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0001270HP:0001270Motor delay0GAN CL E G H81394137OMIM:256850Giant axonal neuropathy 1, autosomal recessive121
HP:0001270HP:0001270Motor delay0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0001270HP:0001270Motor delay0GBA1 CL E G H26294177OMIM:231000Gaucher disease, type III.
HP:0001270HP:0001270Motor delay0GBA1 CL E G H26294177ORPHA:2072Gaucher disease-ophthalmoplegia-cardiovascular calcification syndromeHP:0040284 - Very rare
HP:0001270HP:0001270Motor delay0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0001270HP:0001270Motor delay0GCK CL E G H26454195ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent237
HP:0001270HP:0001270Motor delay0GDAP1 CL E G H5433215968ORPHA:99944Autosomal dominant Charcot-Marie-Tooth disease type 2KHP:0040283 - Occasional108
HP:0001270HP:0001270Motor delay0GDAP1 CL E G H5433215968ORPHA:101097Autosomal recessive Charcot-Marie-Tooth disease with hoarseness108
HP:0001270HP:0001270Motor delay0GDAP1 CL E G H5433215968ORPHA:99948Charcot-Marie-Tooth disease type 4A108
HP:0001270HP:0001270Motor delay0GDAP1 CL E G H5433215968OMIM:214400Charcot-Marie-Tooth disease, type 4A.108
HP:0001270HP:0001270Motor delay0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0001270HP:0001270Motor delay0GEMIN5 CL E G H2592920043OMIM:619333NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND MOTOR DYSFUNCTION; NEDCAM
HP:0001270HP:0001270Motor delay0GFM1 CL E G H8547613780OMIM:609060Combined oxidative phosphorylation deficiency 1.85
HP:0001270HP:0001270Motor delay0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent128
HP:0001270HP:0001270Motor delay0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0001270HP:0001270Motor delay0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1HP:0040283 - Occasional128
HP:0001270HP:0001270Motor delay0GGPS1 CL E G H94534249OMIM:619518MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001270HP:0001270Motor delay0GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040282 - Frequent98
HP:0001270HP:0001270Motor delay0GJB1 CL E G H27054283OMIM:302800Charcot-Marie-Tooth neuropathy, X-linked dominant, 1107
HP:0001270HP:0001270Motor delay0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0001270HP:0001270Motor delay0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 4437
HP:0001270HP:0001270Motor delay0GJC2 CL E G H5716517494OMIM:608804Leukodystrophy, hypomyelinating, 2.37
HP:0001270HP:0001270Motor delay0GLE1 CL E G H27334315OMIM:611890Congenital arthrogryposis with anterior horn cell disease.45
HP:0001270HP:0001270Motor delay0GLRB CL E G H27434329OMIM:614619Hyperekplexia 246
HP:0001270HP:0001270Motor delay0GLS CL E G H27444331OMIM:618412Global developmental delay, progressive ataxia, and elevated glutamine
HP:0001270HP:0001270Motor delay0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0001270HP:0001270Motor delay0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent34
HP:0001270HP:0001270Motor delay0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent34
HP:0001270HP:0001270Motor delay0GMPPB CL E G H2992522932OMIM:615351MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1434
HP:0001270HP:0001270Motor delay0GMPPB CL E G H2992522932OMIM:615352Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14HP:0040283 - Occasional34
HP:0001270HP:0001270Motor delay0GNAI1 CL E G H27704384OMIM:619854
HP:0001270HP:0001270Motor delay0GNB5 CL E G H106814401OMIM:617182Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia7
HP:0001270HP:0001270Motor delay0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0001270HP:0001270Motor delay0GNPTAB CL E G H7915829670ORPHA:576Mucolipidosis type IIHP:0040281 - Very frequent240
HP:0001270HP:0001270Motor delay0GPC3 CL E G H27194451OMIM:312870Simpson-golabi-behmel syndrome, type 173
HP:0001270HP:0001270Motor delay0GPC4 CL E G H22394452OMIM:312870Simpson-golabi-behmel syndrome, type 1
HP:0001270HP:0001270Motor delay0GPSM2 CL E G H2989929501OMIM:604213CHUDLEY-MCCULLOUGH SYNDROME; CMCS74
HP:0001270HP:0001270Motor delay0GRB10 CL E G H28874564ORPHA:96182Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7HP:0040282 - Frequent
HP:0001270HP:0001270Motor delay0GRIA1 CL E G H28904571OMIM:6199313
HP:0001270HP:0001270Motor delay0GRIA1 CL E G H28904571OMIM:6199273
HP:0001270HP:0001270Motor delay0GRIA3 CL E G H28924573ORPHA:364028X-linked intellectual disability due to GRIA3 mutationsHP:0040283 - Occasional30
HP:0001270HP:0001270Motor delay0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0001270HP:0001270Motor delay0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0001270HP:0001270Motor delay0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyria108
HP:0001270HP:0001270Motor delay0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0001270HP:0001270Motor delay0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0001270HP:0001270Motor delay0GRM1 CL E G H29114593OMIM:617691SPINOCEREBELLAR ATAXIA 44; SCA448
HP:0001270HP:0001270Motor delay0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive.2
HP:0001270HP:0001270Motor delay0GTPBP2 CL E G H546764670OMIM:617988Jaberi-Elahi syndrome
HP:0001270HP:0001270Motor delay0H19 CL E G H2831204713ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040283 - Occasional4
HP:0001270HP:0001270Motor delay0H19 CL E G H2831204713ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional4
HP:0001270HP:0001270Motor delay0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001270HP:0001270Motor delay0H4C5 CL E G H83674790OMIM:619950
HP:0001270HP:0001270Motor delay0HACD1 CL E G H92009639OMIM:6199672
HP:0001270HP:0001270Motor delay0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0001270HP:0001270Motor delay0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040283 - Occasional41
HP:0001270HP:0001270Motor delay0HADHA CL E G H30304801ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional99
HP:0001270HP:0001270Motor delay0HADHB CL E G H30324803ORPHA:746Mitochondrial trifunctional protein deficiencyHP:0040283 - Occasional60
HP:0001270HP:0001270Motor delay0HARS1 CL E G H30354816OMIM:614504Usher syndrome, type IIIB
HP:0001270HP:0001270Motor delay0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0001270HP:0001270Motor delay0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0001270HP:0001270Motor delay0HELLS CL E G H30704861OMIM:616911Immunodeficiency-centromeric instability-facial anomalies syndrome 46
HP:0001270HP:0001270Motor delay0HEPACAM CL E G H22029626361OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.82
HP:0001270HP:0001270Motor delay0HEPACAM CL E G H22029626361OMIM:613925Megalencephalic leukoencephalopathy with subcortical cysts 2A.82
HP:0001270HP:0001270Motor delay0HEPACAM CL E G H22029626361OMIM:613926Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation.82
HP:0001270HP:0001270Motor delay0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0001270HP:0001270Motor delay0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0001270HP:0001270Motor delay0HGSNAT CL E G H13805026527OMIM:252930Mucopolysaccharidosis type IIIC.86
HP:0001270HP:0001270Motor delay0HIBCH CL E G H262754908ORPHA:88639Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiencyHP:0040281 - Very frequent32
HP:0001270HP:0001270Motor delay0HID1 CL E G H28398715736OMIM:619983
HP:0001270HP:0001270Motor delay0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0001270HP:0001270Motor delay0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0001270HP:0001270Motor delay0HMGA2 CL E G H80915009ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent2
HP:0001270HP:0001270Motor delay0HNMT CL E G H31765028OMIM:616739Mental retardation, autosomal recessive 51HP:0040283 - Occasional3
HP:0001270HP:0001270Motor delay0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0001270HP:0001270Motor delay0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0001270HP:0001270Motor delay0HOXA1 CL E G H31985099OMIM:601536ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS34
HP:0001270HP:0001270Motor delay0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0001270HP:0001270Motor delay0HPRT1 CL E G H32515157OMIM:300322Lesch-Nyhan syndrome.76
HP:0001270HP:0001270Motor delay0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001270HP:0001270Motor delay0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome
HP:0001270HP:0001270Motor delay0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1HP:0040283 - Occasional98
HP:0001270HP:0001270Motor delay0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0001270HP:0001270Motor delay0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5.
HP:0001270HP:0001270Motor delay0IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0001270HP:0001270Motor delay0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0001270HP:0001270Motor delay0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0001270HP:0001270Motor delay0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0001270HP:0001270Motor delay0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0001270HP:0001270Motor delay0IFT74 CL E G H8017321424OMIM:619582JOUBERT SYNDROME 40; JBTS403
HP:0001270HP:0001270Motor delay0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040283 - Occasional91
HP:0001270HP:0001270Motor delay0IGF1 CL E G H34795464OMIM:608747Insulin-Like growth factor I deficiency.91
HP:0001270HP:0001270Motor delay0IGF1R CL E G H34805465ORPHA:73273Growth delay due to insulin-like growth factor I resistanceHP:0040282 - Frequent268
HP:0001270HP:0001270Motor delay0IGF1R CL E G H34805465OMIM:270450Insulin-Like growth factor I, resistance to.268
HP:0001270HP:0001270Motor delay0IGF2 CL E G H34815466OMIM:616489Growth restriction, severe, with distinctive facies.9
HP:0001270HP:0001270Motor delay0IGF2 CL E G H34815466ORPHA:231144Silver-Russell syndrome due to 11p15 microduplicationHP:0040283 - Occasional9
HP:0001270HP:0001270Motor delay0IGF2 CL E G H34815466ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent9
HP:0001270HP:0001270Motor delay0IGF2 CL E G H34815466ORPHA:231140Silver-Russell syndrome due to an imprinting defect of 11p15HP:0040283 - Occasional9
HP:0001270HP:0001270Motor delay0IL1RN CL E G H35576000OMIM:612852Interleukin 1 receptor antagonist deficiency40
HP:0001270HP:0001270Motor delay0IL37 CL E G H2717815563OMIM:619398INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE; IBD31
HP:0001270HP:0001270Motor delay0IL6ST CL E G H35726021OMIM:619751STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0001270HP:0001270Motor delay0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0001270HP:0001270Motor delay0INPP5K CL E G H5176333882OMIM:617404Muscular dystrophy, congenital, with cataracts and intellectual disability.7
HP:0001270HP:0001270Motor delay0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0001270HP:0001270Motor delay0INS CL E G H36306081ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent62
HP:0001270HP:0001270Motor delay0IPO8 CL E G H105269853OMIM:619472VISS syndrome
HP:0001270HP:0001270Motor delay0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0001270HP:0001270Motor delay0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0001270HP:0001270Motor delay0ITCH CL E G H8373713890OMIM:613385AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD3
HP:0001270HP:0001270Motor delay0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0001270HP:0001270Motor delay0ITGA7 CL E G H36796143OMIM:613204Muscular dystrophy, congenital, due to integrin alpha-7 deficiency.127
HP:0001270HP:0001270Motor delay0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome.177
HP:0001270HP:0001270Motor delay0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29.177
HP:0001270HP:0001270Motor delay0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040282 - Frequent177
HP:0001270HP:0001270Motor delay0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0001270HP:0001270Motor delay0KARS1 CL E G H37356215OMIM:619196DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY; DEAPLE
HP:0001270HP:0001270Motor delay0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0001270HP:0001270Motor delay0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0001270HP:0001270Motor delay0KAT6B CL E G H2352217582OMIM:603736Ohdo syndrome, sbbys variant.141
HP:0001270HP:0001270Motor delay0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001270HP:0001270Motor delay0KATNB1 CL E G H103006217OMIM:616212Lissencephaly 6, with microcephaly10
HP:0001270HP:0001270Motor delay0KBTBD13 CL E G H39059437227ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent80
HP:0001270HP:0001270Motor delay0KCNA1 CL E G H37366218ORPHA:37612Episodic ataxia type 1HP:0040283 - Occasional145
HP:0001270HP:0001270Motor delay0KCNA4 CL E G H37396222OMIM:618284Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum.
HP:0001270HP:0001270Motor delay0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 13.17
HP:0001270HP:0001270Motor delay0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040282 - Frequent17
HP:0001270HP:0001270Motor delay0KCNJ11 CL E G H37676257ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent127
HP:0001270HP:0001270Motor delay0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome.
HP:0001270HP:0001270Motor delay0KCNN2 CL E G H37816291OMIM:619725NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0001270HP:0001270Motor delay0KCNQ2 CL E G H37856296OMIM:121200Seizures, benign familial neonatal, 1HP:0040283 - Occasional528
HP:0001270HP:0001270Motor delay0KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0001270HP:0001270Motor delay0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features.3
HP:0001270HP:0001270Motor delay0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0001270HP:0001270Motor delay0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0001270HP:0001270Motor delay0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0001270HP:0001270Motor delay0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0001270HP:0001270Motor delay0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0001270HP:0001270Motor delay0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0001270HP:0001270Motor delay0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0001270HP:0001270Motor delay0KIDINS220 CL E G H5749829508ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome4
HP:0001270HP:0001270Motor delay0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive9
HP:0001270HP:0001270Motor delay0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome.167
HP:0001270HP:0001270Motor delay0KLC2 CL E G H6483720716OMIM:609541Spastic paraplegia, optic atrophy, and neuropathy.1
HP:0001270HP:0001270Motor delay0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndrome1
HP:0001270HP:0001270Motor delay0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0001270HP:0001270Motor delay0KLHL40 CL E G H13137730372ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent28
HP:0001270HP:0001270Motor delay0KLHL41 CL E G H1032416905ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent13
HP:0001270HP:0001270Motor delay0KLHL41 CL E G H1032416905ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent13
HP:0001270HP:0001270Motor delay0KLHL41 CL E G H1032416905OMIM:615731Nemaline myopathy 9.13
HP:0001270HP:0001270Motor delay0KLHL41 CL E G H1032416905ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent13
HP:0001270HP:0001270Motor delay0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0001270HP:0001270Motor delay0KMT2B CL E G H975715840OMIM:617284Dystonia 28, childhood-onsetHP:0040283 - Occasional11
HP:0001270HP:0001270Motor delay0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0001270HP:0001270Motor delay0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome1
HP:0001270HP:0001270Motor delay0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0001270HP:0001270Motor delay0KPTN CL E G H111336404OMIM:615637Mental retardation, autosomal recessive 4113
HP:0001270HP:0001270Motor delay0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome3
HP:0001270HP:0001270Motor delay0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome.35
HP:0001270HP:0001270Motor delay0LAMA2 CL E G H39086482ORPHA:258Laminin subunit alpha 2-related congenital muscular dystrophyHP:0040281 - Very frequent411
HP:0001270HP:0001270Motor delay0LAMA2 CL E G H39086482OMIM:607855Muscular dystrophy, congenital, merosin deficient or partially deficient411
HP:0001270HP:0001270Motor delay0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0001270HP:0001270Motor delay0LAMB1 CL E G H39126486OMIM:615191Lissencephaly 571
HP:0001270HP:0001270Motor delay0LAMB2 CL E G H39136487OMIM:609049Pierson syndrome92
HP:0001270HP:0001270Motor delay0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent136
HP:0001270HP:0001270Motor delay0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6.136
HP:0001270HP:0001270Motor delay0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1
HP:0001270HP:0001270Motor delay0LARS2 CL E G H2339517095OMIM:615300Perrault syndrome 454
HP:0001270HP:0001270Motor delay0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0001270HP:0001270Motor delay0LIAS CL E G H1101916429OMIM:614462Hyperglycinemia, lactic acidosis, and seizures.31
HP:0001270HP:0001270Motor delay0LIG1 CL E G H39786598OMIM:619774IMMUNODEFICIENCY 96; IMD969
HP:0001270HP:0001270Motor delay0LINGO1 CL E G H8489421205OMIM:618103Mental retardation, autosomal recessive 64
HP:0001270HP:0001270Motor delay0LINS1 CL E G H5518030922OMIM:614340Mental retardation, autosomal recessive 2725
HP:0001270HP:0001270Motor delay0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0001270HP:0001270Motor delay0LMNA CL E G H40006636OMIM:613205Muscular dystrophy, congenital, lmna-related.645
HP:0001270HP:0001270Motor delay0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0001270HP:0001270Motor delay0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0001270HP:0001270Motor delay0LMOD3 CL E G H562036649ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent11
HP:0001270HP:0001270Motor delay0LMX1B CL E G H40106654ORPHA:4958189q33.3q34.11 microdeletion syndromeHP:0040281 - Very frequent165
HP:0001270HP:0001270Motor delay0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0001270HP:0001270Motor delay0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0001270HP:0001270Motor delay0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0001270HP:0001270Motor delay0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0001270HP:0001270Motor delay0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndrome125
HP:0001270HP:0001270Motor delay0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0001270HP:0001270Motor delay0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0001270HP:0001270Motor delay0LTBP1 CL E G H40526714ORPHA:90349Autosomal recessive cutis laxa type 1HP:0040282 - Frequent
HP:0001270HP:0001270Motor delay0LTBP4 CL E G H84256717ORPHA:98896Duchenne muscular dystrophyHP:0040281 - Very frequent92
HP:0001270HP:0001270Motor delay0LYRM4 CL E G H5712821365OMIM:615595Combined oxidative phosphorylation deficiency 194
HP:0001270HP:0001270Motor delay0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0001270HP:0001270Motor delay0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0001270HP:0001270Motor delay0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0001270HP:0001270Motor delay0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040281 - Very frequent63
HP:0001270HP:0001270Motor delay0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0001270HP:0001270Motor delay0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0001270HP:0001270Motor delay0MAN1B1 CL E G H112536823OMIM:614202Rafiq syndrome93
HP:0001270HP:0001270Motor delay0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0001270HP:0001270Motor delay0MAN2C1 CL E G H41236827OMIM:619775CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0001270HP:0001270Motor delay0MAOA CL E G H41286833OMIM:300615Brunner syndrome22
HP:0001270HP:0001270Motor delay0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0001270HP:0001270Motor delay0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0001270HP:0001270Motor delay0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0001270HP:0001270Motor delay0MAPRE2 CL E G H109826891OMIM:616734Skin creases, congenital symmetric circumferential, 2.4
HP:0001270HP:0001270Motor delay0MARS1 CL E G H41416898OMIM:615486Interstitial lung and liver disease
HP:0001270HP:0001270Motor delay0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0001270HP:0001270Motor delay0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 575
HP:0001270HP:0001270Motor delay0MCEE CL E G H8469316732OMIM:251120Methylmalonyl-Coa epimerase deficiency19
HP:0001270HP:0001270Motor delay0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development.3
HP:0001270HP:0001270Motor delay0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0001270HP:0001270Motor delay0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndrome950
HP:0001270HP:0001270Motor delay0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0001270HP:0001270Motor delay0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0001270HP:0001270Motor delay0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalitiesHP:0040283 - Occasional6
HP:0001270HP:0001270Motor delay0MECR CL E G H5110219691ORPHA:508093MEPAN syndrome6
HP:0001270HP:0001270Motor delay0MED12 CL E G H996811957OMIM:305450Opitz-Kaveggia syndrome.228
HP:0001270HP:0001270Motor delay0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0001270HP:0001270Motor delay0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0001270HP:0001270Motor delay0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040281 - Very frequent74
HP:0001270HP:0001270Motor delay0MED13L CL E G H2338922962OMIM:616789Mental retardation and distinctive facial features with or without cardiac defects74
HP:0001270HP:0001270Motor delay0MED27 CL E G H94422377OMIM:619286NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA; NEDSCAC
HP:0001270HP:0001270Motor delay0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20.132
HP:0001270HP:0001270Motor delay0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation1
HP:0001270HP:0001270Motor delay0MEG3 CL E G H5538414575ORPHA:96184Temple syndrome due to maternal uniparental disomy of chromosome 14HP:0040281 - Very frequent1
HP:0001270HP:0001270Motor delay0MEG3 CL E G H5538414575ORPHA:254531Temple syndrome due to paternal 14q32.2 hypomethylationHP:0040281 - Very frequent1
HP:0001270HP:0001270Motor delay0MEG3 CL E G H5538414575ORPHA:254525Temple syndrome due to paternal 14q32.2 microdeletionHP:0040281 - Very frequent1
HP:0001270HP:0001270Motor delay0MEGF10 CL E G H8446629634OMIM:614399Myopathy, areflexia, respiratory distress, and dysphagia, early-onset.158
HP:0001270HP:0001270Motor delay0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0001270HP:0001270Motor delay0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0001270HP:0001270Motor delay0MFF CL E G H5694724858OMIM:617086Encephalopathy due to defective mitochondrial and peroxisomal fission 217
HP:0001270HP:0001270Motor delay0MFF CL E G H5694724858ORPHA:485421MFF-related encephalopathy due to mitochondrial and peroxisomal fission defectHP:0040282 - Frequent17
HP:0001270HP:0001270Motor delay0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B203
HP:0001270HP:0001270Motor delay0MICOS13 CL E G H12598833702OMIM:618329COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001270HP:0001270Motor delay0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs.14
HP:0001270HP:0001270Motor delay0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndrome57
HP:0001270HP:0001270Motor delay0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0001270HP:0001270Motor delay0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0001270HP:0001270Motor delay0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0001270HP:0001270Motor delay0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0001270HP:0001270Motor delay0MLC1 CL E G H2320917082OMIM:604004Megalencephalic leukoencephalopathy with subcortical cysts 1.112
HP:0001270HP:0001270Motor delay0MLIP CL E G H9052321355OMIM:620138
HP:0001270HP:0001270Motor delay0MMP13 CL E G H43227159OMIM:250400Metaphyseal chondrodysplasia, Spahr type.52
HP:0001270HP:0001270Motor delay0MN1 CL E G H43307180OMIM:618774CEBALID SYNDROME; CEBALID1
HP:0001270HP:0001270Motor delay0MORC2 CL E G H2288023573OMIM:616688Charcot-Marie-Tooth disease, axonal, type 2ZHP:0040283 - Occasional8
HP:0001270HP:0001270Motor delay0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0001270HP:0001270Motor delay0MPDZ CL E G H87777208OMIM:615219Hydrocephalus, congenital, 2, with or without brain or eye anomalies.29
HP:0001270HP:0001270Motor delay0MPV17 CL E G H43587224OMIM:256810Navajo neurohepatopathy56
HP:0001270HP:0001270Motor delay0MPZ CL E G H43597225ORPHA:101082Charcot-Marie-Tooth disease type 1BHP:0040283 - Occasional134
HP:0001270HP:0001270Motor delay0MPZ CL E G H43597225OMIM:145900Hypertrophic neuropathy of dejerine-sottas.134
HP:0001270HP:0001270Motor delay0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0001270HP:0001270Motor delay0MPZ CL E G H43597225OMIM:180800Roussy-Levy hereditary areflexic dystasia.134
HP:0001270HP:0001270Motor delay0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0001270HP:0001270Motor delay0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0001270HP:0001270Motor delay0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0001270HP:0001270Motor delay0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001270HP:0001270Motor delay0MSTO1 CL E G H5515429678ORPHA:502423Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndromeHP:0040282 - Frequent
HP:0001270HP:0001270Motor delay0MSTO1 CL E G H5515429678OMIM:617675Myopathy, mitochondrial, and ataxia.
HP:0001270HP:0001270Motor delay0MTM1 CL E G H45347448OMIM:310400Myopathy, centronuclear, X-linked185
HP:0001270HP:0001270Motor delay0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathy7
HP:0001270HP:0001270Motor delay0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant.7
HP:0001270HP:0001270Motor delay0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0001270HP:0001270Motor delay0MTPAP CL E G H5514925532ORPHA:254343Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndromeHP:0040282 - Frequent19
HP:0001270HP:0001270Motor delay0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive19
HP:0001270HP:0001270Motor delay0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0001270HP:0001270Motor delay0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathy19
HP:0001270HP:0001270Motor delay0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A166
HP:0001270HP:0001270Motor delay0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathy1269
HP:0001270HP:0001270Motor delay0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy.
HP:0001270HP:0001270Motor delay0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0001270HP:0001270Motor delay0MYMK CL E G H38982733778OMIM:254940Carey-Fineman-Ziter syndrome.5
HP:0001270HP:0001270Motor delay0MYO18B CL E G H8470018150OMIM:616549Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism5
HP:0001270HP:0001270Motor delay0MYO7A CL E G H46477606OMIM:276900Usher syndrome, type I.516
HP:0001270HP:0001270Motor delay0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0001270HP:0001270Motor delay0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040283 - Occasional
HP:0001270HP:0001270Motor delay0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001270HP:0001270Motor delay0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040282 - Frequent217
HP:0001270HP:0001270Motor delay0MYPN CL E G H8466523246ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent217
HP:0001270HP:0001270Motor delay0MYRF CL E G H7451181OMIM:618280Cardiac-Urogenital syndromeHP:0040284 - Very rare2
HP:0001270HP:0001270Motor delay0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0001270HP:0001270Motor delay0NAA10 CL E G H826018704OMIM:309800Microphthalmia, syndromic 123
HP:0001270HP:0001270Motor delay0NAA10 CL E G H826018704ORPHA:276432Ogden syndrome23
HP:0001270HP:0001270Motor delay0NAA15 CL E G H8015530782OMIM:617787MENTAL RETARDATION, AUTOSOMAL DOMINANT 50; MRD501
HP:0001270HP:0001270Motor delay0NAA20 CL E G H5112615908OMIM:619717INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001270HP:0001270Motor delay0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0001270HP:0001270Motor delay0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent48
HP:0001270HP:0001270Motor delay0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0001270HP:0001270Motor delay0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0001270HP:0001270Motor delay0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0001270HP:0001270Motor delay0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0001270HP:0001270Motor delay0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0001270HP:0001270Motor delay0ND1 CL E G H45357455ORPHA:550MELASHP:0040283 - Occasional
HP:0001270HP:0001270Motor delay0ND4 CL E G H45387459ORPHA:550MELASHP:0040283 - Occasional
HP:0001270HP:0001270Motor delay0ND5 CL E G H45407461ORPHA:550MELASHP:0040283 - Occasional
HP:0001270HP:0001270Motor delay0ND6 CL E G H45417462ORPHA:550MELASHP:0040283 - Occasional
HP:0001270HP:0001270Motor delay0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0001270HP:0001270Motor delay0NDRG1 CL E G H103977679ORPHA:99950Charcot-Marie-Tooth disease type 4DHP:0040282 - Frequent82
HP:0001270HP:0001270Motor delay0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0001270HP:0001270Motor delay0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 127
HP:0001270HP:0001270Motor delay0NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 23.7
HP:0001270HP:0001270Motor delay0NDUFA4 CL E G H46977687OMIM:619065MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN214
HP:0001270HP:0001270Motor delay0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0001270HP:0001270Motor delay0NEB CL E G H47037720ORPHA:171439Childhood-onset nemaline myopathyHP:0040282 - Frequent745
HP:0001270HP:0001270Motor delay0NEB CL E G H47037720ORPHA:171433Intermediate nemaline myopathyHP:0040282 - Frequent745
HP:0001270HP:0001270Motor delay0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0001270HP:0001270Motor delay0NEB CL E G H47037720ORPHA:171430Severe congenital nemaline myopathyHP:0040282 - Frequent745
HP:0001270HP:0001270Motor delay0NEFL CL E G H47477739ORPHA:99939Autosomal dominant Charcot-Marie-Tooth disease type 2EHP:0040283 - Occasional118
HP:0001270HP:0001270Motor delay0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0001270HP:0001270Motor delay0NEFL CL E G H47477739OMIM:607684Charcot-Marie-Tooth disease, axonal, type 2EHP:0040283 - Occasional118
HP:0001270HP:0001270Motor delay0NEFL CL E G H47477739OMIM:607734Charcot-Marie-Tooth disease, demyelinating, type 1F.118
HP:0001270HP:0001270Motor delay0NEFL CL E G H47477739OMIM:617882Charcot-Marie-Tooth disease, dominant intermediate G.118
HP:0001270HP:0001270Motor delay0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactylyHP:0040284 - Very rare101
HP:0001270HP:0001270Motor delay0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0001270HP:0001270Motor delay0NEU1 CL E G H47587758ORPHA:93399Juvenile sialidosis type 2HP:0040283 - Occasional43
HP:0001270HP:0001270Motor delay0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0001270HP:0001270Motor delay0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0001270HP:0001270Motor delay0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001270HP:0001270Motor delay0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040282 - Frequent40
HP:0001270HP:0001270Motor delay0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome.40
HP:0001270HP:0001270Motor delay0NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0001270HP:0001270Motor delay0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0001270HP:0001270Motor delay0NHLRC2 CL E G H37435424731OMIM:618278Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001270HP:0001270Motor delay0NIPA1 CL E G H12360617043ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent117
HP:0001270HP:0001270Motor delay0NIPA2 CL E G H8161417044ORPHA:26118315q11.2 microdeletion syndromeHP:0040282 - Frequent1
HP:0001270HP:0001270Motor delay0NKX2-1 CL E G H708011825ORPHA:209905Brain-lung-thyroid syndromeHP:0040283 - Occasional51
HP:0001270HP:0001270Motor delay0NKX2-1 CL E G H708011825OMIM:118700Chorea, benign hereditary.51
HP:0001270HP:0001270Motor delay0NKX2-1 CL E G H708011825OMIM:610978Choreoathetosis, hypothyroidism, and neonatal respiratory distress.51
HP:0001270HP:0001270Motor delay0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0001270HP:0001270Motor delay0NKX6-2 CL E G H8450419321OMIM:617560Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy.2
HP:0001270HP:0001270Motor delay0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0001270HP:0001270Motor delay0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0001270HP:0001270Motor delay0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0001270HP:0001270Motor delay0NOTCH3 CL E G H48547883OMIM:130720Lateral meningocele syndrome.144
HP:0001270HP:0001270Motor delay0NOVA2 CL E G H48587887OMIM:618859Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0001270HP:0001270Motor delay0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0001270HP:0001270Motor delay0NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 485
HP:0001270HP:0001270Motor delay0NRAS CL E G H48937989OMIM:613224Noonan syndrome 6102
HP:0001270HP:0001270Motor delay0NRCAM CL E G H48977994OMIM:6198332
HP:0001270HP:0001270Motor delay0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0001270HP:0001270Motor delay0NSRP1 CL E G H8408125305OMIM:620001
HP:0001270HP:0001270Motor delay0NT5C2 CL E G H229788022ORPHA:320396Autosomal recessive spastic paraplegia type 45HP:0040282 - Frequent15
HP:0001270HP:0001270Motor delay0NT5C2 CL E G H229788022OMIM:613162Spastic paraplegia 45, autosomal recessive.15
HP:0001270HP:0001270Motor delay0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndrome1
HP:0001270HP:0001270Motor delay0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0001270HP:0001270Motor delay0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 2189
HP:0001270HP:0001270Motor delay0NUDT2 CL E G H3188049OMIM:619844
HP:0001270HP:0001270Motor delay0NUS1 CL E G H11615021042OMIM:617831MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD551
HP:0001270HP:0001270Motor delay0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0001270HP:0001270Motor delay0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency
HP:0001270HP:0001270Motor delay0OPA1 CL E G H49768140OMIM:210000Behr syndrome.214
HP:0001270HP:0001270Motor delay0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0001270HP:0001270Motor delay0ORC6 CL E G H2359417151OMIM:613803Meier-Gorlin syndrome 3HP:0040283 - Occasional39
HP:0001270HP:0001270Motor delay0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0001270HP:0001270Motor delay0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0001270HP:0001270Motor delay0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0001270HP:0001270Motor delay0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutation231
HP:0001270HP:0001270Motor delay0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0001270HP:0001270Motor delay0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0001270HP:0001270Motor delay0PAX7 CL E G H50818621OMIM:618578MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001270HP:0001270Motor delay0PBX1 CL E G H50878632OMIM:617641Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay.3
HP:0001270HP:0001270Motor delay0PCBD1 CL E G H50928646OMIM:264070Hyperphenylalaninemia, BH4-deficient, D24
HP:0001270HP:0001270Motor delay0PCDH15 CL E G H6521714674OMIM:602083Usher syndrome, type IF.352
HP:0001270HP:0001270Motor delay0PCDH19 CL E G H5752614270ORPHA:101039Female restricted epilepsy with intellectual disabilityHP:0040282 - Frequent225
HP:0001270HP:0001270Motor delay0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0001270HP:0001270Motor delay0PDE10A CL E G H108468772OMIM:616921Dyskinesia, limb and orofacial, infantile-onset.5
HP:0001270HP:0001270Motor delay0PDE10A CL E G H108468772ORPHA:494526Infantile-onset generalized dyskinesia with orofacial involvementHP:0040282 - Frequent5
HP:0001270HP:0001270Motor delay0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040283 - Occasional4
HP:0001270HP:0001270Motor delay0PDX1 CL E G H36516107ORPHA:99885Isolated permanent neonatal diabetes mellitusHP:0040282 - Frequent30
HP:0001270HP:0001270Motor delay0PET117 CL E G H10030375540045OMIM:619063MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0001270HP:0001270Motor delay0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0001270HP:0001270Motor delay0PGM1 CL E G H52368905OMIM:614921Congenital disorder of glycosylation, type It58
HP:0001270HP:0001270Motor delay0PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemia217
HP:0001270HP:0001270Motor delay0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency54
HP:0001270HP:0001270Motor delay0PHKA2 CL E G H52568926OMIM:306000Glycogen storage disease ixa.54
HP:0001270HP:0001270Motor delay0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0001270HP:0001270Motor delay0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiency48
HP:0001270HP:0001270Motor delay0PHKG2 CL E G H52618931OMIM:613027Glycogen storage disease IXc48
HP:0001270HP:0001270Motor delay0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0001270HP:0001270Motor delay0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0001270HP:0001270Motor delay0PIGC CL E G H52798960OMIM:617816Glycosylphosphatidylinositol biosynthesis defect 161
HP:0001270HP:0001270Motor delay0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndrome7
HP:0001270HP:0001270Motor delay0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0001270HP:0001270Motor delay0PLAG1 CL E G H53249045ORPHA:397590Silver-Russell syndrome due to a point mutationHP:0040282 - Frequent3
HP:0001270HP:0001270Motor delay0PLEC CL E G H53399069OMIM:613723Muscular dystrophy, limb-girdle, type 2Q.759
HP:0001270HP:0001270Motor delay0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040282 - Frequent759
HP:0001270HP:0001270Motor delay0PLOD1