Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental delay (HP:0012758)help
Parent Node:
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Motor delay (HP:0001270)help
..Starting node
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Delayed gross motor development (HP:0002194)help
Term ID: 2194
Name: Delayed gross motor development
Synonym: Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development
Definition: A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Comments:
Reference: HP:0002194
Genes and Diseases:
 
       Child Nodes:
........expandDelayed ability to stand (HP:0025335) help
........expandDelayed ability to sit (HP:0025336) help

 Sister Nodes: 
..expandDelayed fine motor development (HP:0010862) 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:0002194HP:0002194Delayed gross motor development0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0002194HP:0002194Delayed gross motor development0ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0002194HP:0002194Delayed gross motor development0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0002194HP:0002194Delayed gross motor development0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0002194HP:0002194Delayed gross motor development0ADCY5 CL E G H111236ORPHA:324588Familial dyskinesia and facial myokymiaHP:0040283 - Occasional25
HP:0002194HP:0002194Delayed gross motor development0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0002194HP:0002194Delayed gross motor development0ADGRL1 CL E G H2285920973OMIM:620065
HP:0002194HP:0002194Delayed gross motor development0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional127
HP:0002194HP:0002194Delayed gross motor development0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome36
HP:0002194HP:0002194Delayed gross motor development0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0002194HP:0002194Delayed gross motor development0AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3175
HP:0002194HP:0002194Delayed gross motor development0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional1
HP:0002194HP:0002194Delayed gross motor development0ALG12 CL E G H7908719358ORPHA:79324ALG12-CDGHP:0040282 - Frequent68
HP:0002194HP:0002194Delayed gross motor development0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0002194HP:0002194Delayed gross motor development0ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosis114
HP:0002194HP:0002194Delayed gross motor development0AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndrome25
HP:0002194HP:0002194Delayed gross motor development0AMPD2 CL E G H271469ORPHA:401805Autosomal recessive spastic paraplegia type 63HP:0040282 - Frequent21
HP:0002194HP:0002194Delayed gross motor development0AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive21
HP:0002194HP:0002194Delayed gross motor development0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0002194HP:0002194Delayed gross motor development0APC2 CL E G H1029724036OMIM:618677CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM101
HP:0002194HP:0002194Delayed gross motor development0ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0002194HP:0002194Delayed gross motor development0ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0002194HP:0002194Delayed gross motor development0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0002194HP:0002194Delayed gross motor development0ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 251
HP:0002194HP:0002194Delayed gross motor development0ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002194HP:0002194Delayed gross motor development0ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q134
HP:0002194HP:0002194Delayed gross motor development0ATP1A1 CL E G H476799ORPHA:564178Primary hypomagnesemia with refractory seizures and intellectual disabilityHP:0040282 - Frequent4
HP:0002194HP:0002194Delayed gross motor development0ATP6V0A1 CL E G H535865OMIM:6199701
HP:0002194HP:0002194Delayed gross motor development0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 33
HP:0002194HP:0002194Delayed gross motor development0BCAS3 CL E G H5482814347OMIM:619641HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS2
HP:0002194HP:0002194Delayed gross motor development0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES3
HP:0002194HP:0002194Delayed gross motor development0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0002194HP:0002194Delayed gross motor development0BIN1 CL E G H2741052ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent99
HP:0002194HP:0002194Delayed gross motor development0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0002194HP:0002194Delayed gross motor development0BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures20
HP:0002194HP:0002194Delayed gross motor development0BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis10
HP:0002194HP:0002194Delayed gross motor development0BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafness53
HP:0002194HP:0002194Delayed gross motor development0CACNA1C CL E G H7751390OMIM:620029572
HP:0002194HP:0002194Delayed gross motor development0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0002194HP:0002194Delayed gross motor development0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0002194HP:0002194Delayed gross motor development0CARS1 CL E G H8331493OMIM:618891MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002194HP:0002194Delayed gross motor development0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0002194HP:0002194Delayed gross motor development0CCDC134 CL E G H7987926185OMIM:619795OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0002194HP:0002194Delayed gross motor development0CDC40 CL E G H5136217350OMIM:619302PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0002194HP:0002194Delayed gross motor development0CDH2 CL E G H10001759OMIM:618929AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002194HP:0002194Delayed gross motor development0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002194HP:0002194Delayed gross motor development0CDKL5 CL E G H679211411ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional405
HP:0002194HP:0002194Delayed gross motor development0CDKL5 CL E G H679211411ORPHA:505652CDKL5-deficiency disorderHP:0040282 - Frequent405
HP:0002194HP:0002194Delayed gross motor development0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002194HP:0002194Delayed gross motor development0CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0002194HP:0002194Delayed gross motor development0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0002194HP:0002194Delayed gross motor development0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome2
HP:0002194HP:0002194Delayed gross motor development0CHKA CL E G H11191937OMIM:620023
HP:0002194HP:0002194Delayed gross motor development0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0002194HP:0002194Delayed gross motor development0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional74
HP:0002194HP:0002194Delayed gross motor development0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0002194HP:0002194Delayed gross motor development0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional53
HP:0002194HP:0002194Delayed gross motor development0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel88
HP:0002194HP:0002194Delayed gross motor development0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional88
HP:0002194HP:0002194Delayed gross motor development0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional139
HP:0002194HP:0002194Delayed gross motor development0CHST14 CL E G H11318924464OMIM:601776Ehlers-Danlos syndrome, musculocontractural type 127
HP:0002194HP:0002194Delayed gross motor development0CHST14 CL E G H11318924464ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent27
HP:0002194HP:0002194Delayed gross motor development0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0002194HP:0002194Delayed gross motor development0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0002194HP:0002194Delayed gross motor development0CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0002194HP:0002194Delayed gross motor development0CLCN7 CL E G H11862025OMIM:618541Hypopigmentation, organomegaly, and delayed myelination and development.102
HP:0002194HP:0002194Delayed gross motor development0CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafness9
HP:0002194HP:0002194Delayed gross motor development0CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafness27
HP:0002194HP:0002194Delayed gross motor development0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0002194HP:0002194Delayed gross motor development0CLP1 CL E G H1097816999ORPHA:411493Pontocerebellar hypoplasia type 10HP:0040281 - Very frequent7
HP:0002194HP:0002194Delayed gross motor development0CLPB CL E G H8157030664ORPHA:4450383-methylglutaconic aciduria type 7HP:0040282 - Frequent38
HP:0002194HP:0002194Delayed gross motor development0CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0002194HP:0002194Delayed gross motor development0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002194HP:0002194Delayed gross motor development0CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0002194HP:0002194Delayed gross motor development0CNTNAP2 CL E G H2604713830OMIM:610042Pitt-Hopkins-Like syndrome 1.518
HP:0002194HP:0002194Delayed gross motor development0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0002194HP:0002194Delayed gross motor development0COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 265
HP:0002194HP:0002194Delayed gross motor development0COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndrome65
HP:0002194HP:0002194Delayed gross motor development0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional6
HP:0002194HP:0002194Delayed gross motor development0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0002194HP:0002194Delayed gross motor development0COL1A2 CL E G H12782198OMIM:617821Ehlers-Danlos syndrome, arthrochalasia type, 2.243
HP:0002194HP:0002194Delayed gross motor development0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0002194HP:0002194Delayed gross motor development0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0002194HP:0002194Delayed gross motor development0COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0002194HP:0002194Delayed gross motor development0CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 631
HP:0002194HP:0002194Delayed gross motor development0CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0002194HP:0002194Delayed gross motor development0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0002194HP:0002194Delayed gross motor development0CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0002194HP:0002194Delayed gross motor development0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0002194HP:0002194Delayed gross motor development0CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndrome273
HP:0002194HP:0002194Delayed gross motor development0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0002194HP:0002194Delayed gross motor development0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0002194HP:0002194Delayed gross motor development0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0002194HP:0002194Delayed gross motor development0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0002194HP:0002194Delayed gross motor development0CYP3A4 CL E G H15762637OMIM:619073VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR32
HP:0002194HP:0002194Delayed gross motor development0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophy108
HP:0002194HP:0002194Delayed gross motor development0DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR62
HP:0002194HP:0002194Delayed gross motor development0DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0002194HP:0002194Delayed gross motor development0DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language4
HP:0002194HP:0002194Delayed gross motor development0DLAT CL E G H17372896OMIM:245348Pyruvate dehydrogenase E2 deficiency.82
HP:0002194HP:0002194Delayed gross motor development0DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiency82
HP:0002194HP:0002194Delayed gross motor development0DLK1 CL E G H87882907ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040283 - Occasional1
HP:0002194HP:0002194Delayed gross motor development0DMD CL E G H17562928OMIM:310200Duchenne muscular dystrophy1496
HP:0002194HP:0002194Delayed gross motor development0DNAJC19 CL E G H13111830528ORPHA:66634Dilated cardiomyopathy with ataxiaHP:0040282 - Frequent25
HP:0002194HP:0002194Delayed gross motor development0DNASE2 CL E G H17772960OMIM:619858
HP:0002194HP:0002194Delayed gross motor development0DNM2 CL E G H17852974ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent167
HP:0002194HP:0002194Delayed gross motor development0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0002194HP:0002194Delayed gross motor development0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional91
HP:0002194HP:0002194Delayed gross motor development0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0002194HP:0002194Delayed gross motor development0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7
HP:0002194HP:0002194Delayed gross motor development0DPH2 CL E G H18023004OMIM:620062
HP:0002194HP:0002194Delayed gross motor development0DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0002194HP:0002194Delayed gross motor development0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002194HP:0002194Delayed gross motor development0DSE CL E G H2994021144OMIM:615539Ehlers-Danlos syndrome, musculocontractural type, 2.13
HP:0002194HP:0002194Delayed gross motor development0DSE CL E G H2994021144ORPHA:2953Musculocontractural Ehlers-Danlos syndromeHP:0040281 - Very frequent13
HP:0002194HP:0002194Delayed gross motor development0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant427
HP:0002194HP:0002194Delayed gross motor development0DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies1
HP:0002194HP:0002194Delayed gross motor development0EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0002194HP:0002194Delayed gross motor development0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional223
HP:0002194HP:0002194Delayed gross motor development0EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0002194HP:0002194Delayed gross motor development0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0002194HP:0002194Delayed gross motor development0EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0002194HP:0002194Delayed gross motor development0EP300 CL E G H20333373OMIM:613684Rubinstein-Taybi syndrome 2.250
HP:0002194HP:0002194Delayed gross motor development0ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive18
HP:0002194HP:0002194Delayed gross motor development0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0002194HP:0002194Delayed gross motor development0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome3
HP:0002194HP:0002194Delayed gross motor development0FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0002194HP:0002194Delayed gross motor development0FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0002194HP:0002194Delayed gross motor development0FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome12
HP:0002194HP:0002194Delayed gross motor development0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0002194HP:0002194Delayed gross motor development0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities7
HP:0002194HP:0002194Delayed gross motor development0FDXR CL E G H22323642ORPHA:543470Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndromeHP:0040281 - Very frequent
HP:0002194HP:0002194Delayed gross motor development0FGF3 CL E G H22483681OMIM:610706Deafness, congenital, with inner ear agenesis, microtia, and microdontia.18
HP:0002194HP:0002194Delayed gross motor development0FIG4 CL E G H989616873ORPHA:208441Bilateral parasagittal parieto-occipital polymicrogyriaHP:0040281 - Very frequent111
HP:0002194HP:0002194Delayed gross motor development0FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0002194HP:0002194Delayed gross motor development0FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0002194HP:0002194Delayed gross motor development0FKRP CL E G H7914717997OMIM:606612MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5.157
HP:0002194HP:0002194Delayed gross motor development0FLRT1 CL E G H237693760ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent
HP:0002194HP:0002194Delayed gross motor development0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0002194HP:0002194Delayed gross motor development0FLVCR1 CL E G H2898224682ORPHA:88628Posterior column ataxia-retinitis pigmentosa syndromeHP:0040283 - Occasional111
HP:0002194HP:0002194Delayed gross motor development0FNIP1 CL E G H9645929418OMIM:619705IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD931
HP:0002194HP:0002194Delayed gross motor development0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0002194HP:0002194Delayed gross motor development0FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0002194HP:0002194Delayed gross motor development0FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0002194HP:0002194Delayed gross motor development0FTSJ1 CL E G H2414013254OMIM:309549Mental retardation, X-linked 913
HP:0002194HP:0002194Delayed gross motor development0FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosis105
HP:0002194HP:0002194Delayed gross motor development0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onset407
HP:0002194HP:0002194Delayed gross motor development0GABBR2 CL E G H95684507ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional5
HP:0002194HP:0002194Delayed gross motor development0GALE CL E G H25824116OMIM:230350Galactose epimerase deficiency.52
HP:0002194HP:0002194Delayed gross motor development0GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0002194HP:0002194Delayed gross motor development0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0002194HP:0002194Delayed gross motor development0GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0002194HP:0002194Delayed gross motor development0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 44HP:0040283 - Occasional37
HP:0002194HP:0002194Delayed gross motor development0GLS CL E G H27444331OMIM:618412Global developmental delay, progressive ataxia, and elevated glutamine.
HP:0002194HP:0002194Delayed gross motor development0GNAI1 CL E G H27704384OMIM:619854
HP:0002194HP:0002194Delayed gross motor development0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0002194HP:0002194Delayed gross motor development0GRIA1 CL E G H28904571OMIM:6199273
HP:0002194HP:0002194Delayed gross motor development0GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities
HP:0002194HP:0002194Delayed gross motor development0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002194HP:0002194Delayed gross motor development0GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040281 - Very frequent108
HP:0002194HP:0002194Delayed gross motor development0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0002194HP:0002194Delayed gross motor development0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0002194HP:0002194Delayed gross motor development0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002194HP:0002194Delayed gross motor development0HARS1 CL E G H30354816OMIM:614504Usher syndrome, type IIIB.
HP:0002194HP:0002194Delayed gross motor development0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0002194HP:0002194Delayed gross motor development0HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language11
HP:0002194HP:0002194Delayed gross motor development0HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0002194HP:0002194Delayed gross motor development0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0002194HP:0002194Delayed gross motor development0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0002194HP:0002194Delayed gross motor development0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion8
HP:0002194HP:0002194Delayed gross motor development0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation8
HP:0002194HP:0002194Delayed gross motor development0HOXA1 CL E G H31985099OMIM:601536ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS34
HP:0002194HP:0002194Delayed gross motor development0HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome
HP:0002194HP:0002194Delayed gross motor development0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0002194HP:0002194Delayed gross motor development0HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0002194HP:0002194Delayed gross motor development0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0002194HP:0002194Delayed gross motor development0IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0002194HP:0002194Delayed gross motor development0ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0002194HP:0002194Delayed gross motor development0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0002194HP:0002194Delayed gross motor development0ITPR1 CL E G H37086180ORPHA:208513Spinocerebellar ataxia type 29HP:0040281 - Very frequent177
HP:0002194HP:0002194Delayed gross motor development0JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0002194HP:0002194Delayed gross motor development0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002194HP:0002194Delayed gross motor development0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0002194HP:0002194Delayed gross motor development0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0002194HP:0002194Delayed gross motor development0KCNK4 CL E G H508016279OMIM:618381Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
HP:0002194HP:0002194Delayed gross motor development0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0002194HP:0002194Delayed gross motor development0KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0002194HP:0002194Delayed gross motor development0KDM4B CL E G H2303029136OMIM:619320INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002194HP:0002194Delayed gross motor development0KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 652
HP:0002194HP:0002194Delayed gross motor development0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0002194HP:0002194Delayed gross motor development0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0002194HP:0002194Delayed gross motor development0KIDINS220 CL E G H5749829508ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndromeHP:0040282 - Frequent4
HP:0002194HP:0002194Delayed gross motor development0KIF14 CL E G H992819181OMIM:617914Microcephaly 20, primary, autosomal recessive.9
HP:0002194HP:0002194Delayed gross motor development0KLC2 CL E G H6483720716ORPHA:320406Spastic paraplegia-optic atrophy-neuropathy syndromeHP:0040282 - Frequent1
HP:0002194HP:0002194Delayed gross motor development0KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0002194HP:0002194Delayed gross motor development0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040282 - Frequent91
HP:0002194HP:0002194Delayed gross motor development0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040283 - Occasional99
HP:0002194HP:0002194Delayed gross motor development0KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome1
HP:0002194HP:0002194Delayed gross motor development0KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndrome13
HP:0002194HP:0002194Delayed gross motor development0KY CL E G H33985526576ORPHA:496689Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndromeHP:0040282 - Frequent3
HP:0002194HP:0002194Delayed gross motor development0LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0002194HP:0002194Delayed gross motor development0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0002194HP:0002194Delayed gross motor development0LARS1 CL E G H515206512OMIM:615438Infantile liver failure syndrome 1HP:0040283 - Occasional
HP:0002194HP:0002194Delayed gross motor development0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0002194HP:0002194Delayed gross motor development0LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0002194HP:0002194Delayed gross motor development0LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0002194HP:0002194Delayed gross motor development0LRP4 CL E G H40386696OMIM:212780Cenani-Lenz syndactyly syndrome124
HP:0002194HP:0002194Delayed gross motor development0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional124
HP:0002194HP:0002194Delayed gross motor development0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040283 - Occasional125
HP:0002194HP:0002194Delayed gross motor development0LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002194HP:0002194Delayed gross motor development0LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0002194HP:0002194Delayed gross motor development0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0002194HP:0002194Delayed gross motor development0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome63
HP:0002194HP:0002194Delayed gross motor development0MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002194HP:0002194Delayed gross motor development0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0002194HP:0002194Delayed gross motor development0MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 575
HP:0002194HP:0002194Delayed gross motor development0MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0002194HP:0002194Delayed gross motor development0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0002194HP:0002194Delayed gross motor development0MECP2 CL E G H42046990ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional950
HP:0002194HP:0002194Delayed gross motor development0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002194HP:0002194Delayed gross motor development0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002194HP:0002194Delayed gross motor development0MECR CL E G H5110219691OMIM:617282Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities6
HP:0002194HP:0002194Delayed gross motor development0MED13 CL E G H996922474OMIM:618009INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61; MRD614
HP:0002194HP:0002194Delayed gross motor development0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0002194HP:0002194Delayed gross motor development0MEG3 CL E G H5538414575ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040283 - Occasional1
HP:0002194HP:0002194Delayed gross motor development0MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0002194HP:0002194Delayed gross motor development0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002194HP:0002194Delayed gross motor development0MFN2 CL E G H992716877OMIM:617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B.203
HP:0002194HP:0002194Delayed gross motor development0MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndrome57
HP:0002194HP:0002194Delayed gross motor development0MINPP1 CL E G H95627102OMIM:619527PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH163
HP:0002194HP:0002194Delayed gross motor development0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0002194HP:0002194Delayed gross motor development0MORC2 CL E G H2288023573OMIM:619090DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY; DIGFAN8
HP:0002194HP:0002194Delayed gross motor development0MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0002194HP:0002194Delayed gross motor development0MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0002194HP:0002194Delayed gross motor development0MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38
HP:0002194HP:0002194Delayed gross motor development0MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0002194HP:0002194Delayed gross motor development0MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002194HP:0002194Delayed gross motor development0MTMR14 CL E G H6441926190ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent7
HP:0002194HP:0002194Delayed gross motor development0MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive19
HP:0002194HP:0002194Delayed gross motor development0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional72
HP:0002194HP:0002194Delayed gross motor development0MYF6 CL E G H46187566ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent19
HP:0002194HP:0002194Delayed gross motor development0MYH7 CL E G H46257577ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent1269
HP:0002194HP:0002194Delayed gross motor development0MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic
HP:0002194HP:0002194Delayed gross motor development0MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0002194HP:0002194Delayed gross motor development0NAA10 CL E G H826018704ORPHA:276432Ogden syndromeHP:0040283 - Occasional23
HP:0002194HP:0002194Delayed gross motor development0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002194HP:0002194Delayed gross motor development0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002194HP:0002194Delayed gross motor development0NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0002194HP:0002194Delayed gross motor development0NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome2
HP:0002194HP:0002194Delayed gross motor development0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0002194HP:0002194Delayed gross motor development0NDST1 CL E G H33407680OMIM:616116Mental retardation, autosomal recessive 4627
HP:0002194HP:0002194Delayed gross motor development0NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 127
HP:0002194HP:0002194Delayed gross motor development0NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 237
HP:0002194HP:0002194Delayed gross motor development0NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002194HP:0002194Delayed gross motor development0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0002194HP:0002194Delayed gross motor development0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0002194HP:0002194Delayed gross motor development0NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0002194HP:0002194Delayed gross motor development0NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0002194HP:0002194Delayed gross motor development0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0002194HP:0002194Delayed gross motor development0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002194HP:0002194Delayed gross motor development0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040282 - Frequent10
HP:0002194HP:0002194Delayed gross motor development0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0002194HP:0002194Delayed gross motor development0NPHP1 CL E G H48677905OMIM:609583Joubert syndrome 4.85
HP:0002194HP:0002194Delayed gross motor development0NTNG1 CL E G H2285423319ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional1
HP:0002194HP:0002194Delayed gross motor development0NUBPL CL E G H8022420278OMIM:618242Mitochondrial complex I deficiency, nuclear type 2189
HP:0002194HP:0002194Delayed gross motor development0NUDT2 CL E G H3188049OMIM:619844
HP:0002194HP:0002194Delayed gross motor development0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0002194HP:0002194Delayed gross motor development0OGDH CL E G H49678124OMIM:203740Alpha-Ketoglutarate dehydrogenase deficiency
HP:0002194HP:0002194Delayed gross motor development0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0002194HP:0002194Delayed gross motor development0OTUD6B CL E G H5163324281OMIM:617452Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies4
HP:0002194HP:0002194Delayed gross motor development0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0002194HP:0002194Delayed gross motor development0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66
HP:0002194HP:0002194Delayed gross motor development0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutation231
HP:0002194HP:0002194Delayed gross motor development0PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay
HP:0002194HP:0002194Delayed gross motor development0PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0002194HP:0002194Delayed gross motor development0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0002194HP:0002194Delayed gross motor development0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0002194HP:0002194Delayed gross motor development0PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemia217
HP:0002194HP:0002194Delayed gross motor development0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional54
HP:0002194HP:0002194Delayed gross motor development0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0002194HP:0002194Delayed gross motor development0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040283 - Occasional48
HP:0002194HP:0002194Delayed gross motor development0PI4KA CL E G H52978983OMIM:619708GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID211
HP:0002194HP:0002194Delayed gross motor development0PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch77
HP:0002194HP:0002194Delayed gross motor development0PIGC CL E G H52798960OMIM:617816Glycosylphosphatidylinositol biosynthesis defect 161
HP:0002194HP:0002194Delayed gross motor development0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndrome7
HP:0002194HP:0002194Delayed gross motor development0PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0002194HP:0002194Delayed gross motor development0PLEC CL E G H53399069ORPHA:254361Plectin-related limb-girdle muscular dystrophy R17HP:0040283 - Occasional759
HP:0002194HP:0002194Delayed gross motor development0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0002194HP:0002194Delayed gross motor development0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0002194HP:0002194Delayed gross motor development0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic form60
HP:0002194HP:0002194Delayed gross motor development0PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 37
HP:0002194HP:0002194Delayed gross motor development0PNP CL E G H48607892OMIM:613179Immunodeficiency due to purine nucleoside phosphorylase deficiency52
HP:0002194HP:0002194Delayed gross motor development0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy65
HP:0002194HP:0002194Delayed gross motor development0POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 1138
HP:0002194HP:0002194Delayed gross motor development0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002194HP:0002194Delayed gross motor development0POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0002194HP:0002194Delayed gross motor development0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0002194HP:0002194Delayed gross motor development0POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1218
HP:0002194HP:0002194Delayed gross motor development0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040282 - Frequent221
HP:0002194HP:0002194Delayed gross motor development0PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities2
HP:0002194HP:0002194Delayed gross motor development0PPP2R1A CL E G H55189302OMIM:616362Mental retardation, autosomal dominant 36.13
HP:0002194HP:0002194Delayed gross motor development0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0002194HP:0002194Delayed gross motor development0PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 3510
HP:0002194HP:0002194Delayed gross motor development0PRIM1 CL E G H55579369OMIM:620005
HP:0002194HP:0002194Delayed gross motor development0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures6
HP:0002194HP:0002194Delayed gross motor development0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0002194HP:0002194Delayed gross motor development0PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002194HP:0002194Delayed gross motor development0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0002194HP:0002194Delayed gross motor development0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0002194HP:0002194Delayed gross motor development0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0002194HP:0002194Delayed gross motor development0RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndrome150
HP:0002194HP:0002194Delayed gross motor development0RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0002194HP:0002194Delayed gross motor development0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional73
HP:0002194HP:0002194Delayed gross motor development0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0002194HP:0002194Delayed gross motor development0RBPJ CL E G H35165724OMIM:614814Adams-Oliver syndrome 33
HP:0002194HP:0002194Delayed gross motor development0REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7
HP:0002194HP:0002194Delayed gross motor development0RNU12 CL E G H26701019380ORPHA:512260Congenital cerebellar ataxia due to RNU12 mutationHP:0040282 - Frequent
HP:0002194HP:0002194Delayed gross motor development0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0002194HP:0002194Delayed gross motor development0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0002194HP:0002194Delayed gross motor development0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002194HP:0002194Delayed gross motor development0RTL1 CL E G H38801514665ORPHA:254534Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylationHP:0040283 - Occasional
HP:0002194HP:0002194Delayed gross motor development0RUBCN CL E G H971128991ORPHA:404499Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiencyHP:0040281 - Very frequent9
HP:0002194HP:0002194Delayed gross motor development0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0002194HP:0002194Delayed gross motor development0RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61
HP:0002194HP:0002194Delayed gross motor development0RYR1 CL E G H626110483ORPHA:169189Autosomal dominant centronuclear myopathyHP:0040282 - Frequent1200
HP:0002194HP:0002194Delayed gross motor development0RYR1 CL E G H626110483OMIM:117000Central core disease1200
HP:0002194HP:0002194Delayed gross motor development0RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0002194HP:0002194Delayed gross motor development0RYR1 CL E G H626110483ORPHA:178145Moderate multiminicore disease with hand involvementHP:0040282 - Frequent1200
HP:0002194HP:0002194Delayed gross motor development0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002194HP:0002194Delayed gross motor development0SCN2A CL E G H632610588OMIM:618924EPISODIC ATAXIA, TYPE 9; EA9427
HP:0002194HP:0002194Delayed gross motor development0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040283 - Occasional263
HP:0002194HP:0002194Delayed gross motor development0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0002194HP:0002194Delayed gross motor development0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0002194HP:0002194Delayed gross motor development0SELENON CL E G H5719015999ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent144
HP:0002194HP:0002194Delayed gross motor development0SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0002194HP:0002194Delayed gross motor development0SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002194HP:0002194Delayed gross motor development0SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 581
HP:0002194HP:0002194Delayed gross motor development0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040281 - Very frequent43
HP:0002194HP:0002194Delayed gross motor development0SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0002194HP:0002194Delayed gross motor development0SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002194HP:0002194Delayed gross motor development0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0002194HP:0002194Delayed gross motor development0SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosis6
HP:0002194HP:0002194Delayed gross motor development0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002194HP:0002194Delayed gross motor development0SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0002194HP:0002194Delayed gross motor development0SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndrome57
HP:0002194HP:0002194Delayed gross motor development0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0002194HP:0002194Delayed gross motor development0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic28
HP:0002194HP:0002194Delayed gross motor development0SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0002194HP:0002194Delayed gross motor development0SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression1
HP:0002194HP:0002194Delayed gross motor development0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0002194HP:0002194Delayed gross motor development0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN11
HP:0002194HP:0002194Delayed gross motor development0SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic9
HP:0002194HP:0002194Delayed gross motor development0SLC6A3 CL E G H653111049OMIM:613135Parkinsonism-Dystonia, infantile, 1.13
HP:0002194HP:0002194Delayed gross motor development0SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108
HP:0002194HP:0002194Delayed gross motor development0SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0002194HP:0002194Delayed gross motor development0SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0002194HP:0002194Delayed gross motor development0SMC1A CL E G H824311111ORPHA:3095Atypical Rett syndromeHP:0040283 - Occasional135
HP:0002194HP:0002194Delayed gross motor development0SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0002194HP:0002194Delayed gross motor development0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040283 - Occasional164
HP:0002194HP:0002194Delayed gross motor development0SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 182
HP:0002194HP:0002194Delayed gross motor development0SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q1337
HP:0002194HP:0002194Delayed gross motor development0SNX14 CL E G H5723114977ORPHA:397709Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndromeHP:0040281 - Very frequent14
HP:0002194HP:0002194Delayed gross motor development0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0002194HP:0002194Delayed gross motor development0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002194HP:0002194Delayed gross motor development0SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosis287
HP:0002194HP:0002194Delayed gross motor development0SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0002194HP:0002194Delayed gross motor development0SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002194HP:0002194Delayed gross motor development0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0002194HP:0002194Delayed gross motor development0SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosis54
HP:0002194HP:0002194Delayed gross motor development0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0002194HP:0002194Delayed gross motor development0STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities1
HP:0002194HP:0002194Delayed gross motor development0SUCLA2 CL E G H880311448OMIM:612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria).66
HP:0002194HP:0002194Delayed gross motor development0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0002194HP:0002194Delayed gross motor development0SUPT16H CL E G H1119811465OMIM:619480NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002194HP:0002194Delayed gross motor development0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0002194HP:0002194Delayed gross motor development0SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome1
HP:0002194HP:0002194Delayed gross motor development0TAF1 CL E G H687211535OMIM:300966MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS3321
HP:0002194HP:0002194Delayed gross motor development0TAF1 CL E G H687211535ORPHA:480907X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeHP:0040281 - Very frequent21
HP:0002194HP:0002194Delayed gross motor development0TAF8 CL E G H12968517300OMIM:619972
HP:0002194HP:0002194Delayed gross motor development0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome12
HP:0002194HP:0002194Delayed gross motor development0TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay1
HP:0002194HP:0002194Delayed gross motor development0TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities1
HP:0002194HP:0002194Delayed gross motor development0TET3 CL E G H20042428313OMIM:618798BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002194HP:0002194Delayed gross motor development0TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive18
HP:0002194HP:0002194Delayed gross motor development0TGFB3 CL E G H704311769OMIM:615582LOEYS-DIETZ SYNDROME 5; LDS585
HP:0002194HP:0002194Delayed gross motor development0TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0002194HP:0002194Delayed gross motor development0TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX1
HP:0002194HP:0002194Delayed gross motor development0TK2 CL E G H708411831OMIM:609560Mitochondrial DNA depletion syndrome 2 (myopathic type).103
HP:0002194HP:0002194Delayed gross motor development0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0002194HP:0002194Delayed gross motor development0TMEM147 CL E G H1043030414OMIM:620075
HP:0002194HP:0002194Delayed gross motor development0TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002194HP:0002194Delayed gross motor development0TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002194HP:0002194Delayed gross motor development0TMEM63C CL E G H5715623787OMIM:619966
HP:0002194HP:0002194Delayed gross motor development0TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies1
HP:0002194HP:0002194Delayed gross motor development0TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 85
HP:0002194HP:0002194Delayed gross motor development0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset44
HP:0002194HP:0002194Delayed gross motor development0TNNT1 CL E G H713811948OMIM:605355NEMALINE MYOPATHY 5; NEM537
HP:0002194HP:0002194Delayed gross motor development0TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 271
HP:0002194HP:0002194Delayed gross motor development0TNRC6B CL E G H2311229190OMIM:619243GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES; GDSBA
HP:0002194HP:0002194Delayed gross motor development0TRAPPC10 CL E G H710911868OMIM:6200271
HP:0002194HP:0002194Delayed gross motor development0TRAPPC6B CL E G H12255323066OMIM:617862Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0002194HP:0002194Delayed gross motor development0TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13158
HP:0002194HP:0002194Delayed gross motor development0TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R3
HP:0002194HP:0002194Delayed gross motor development0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0002194HP:0002194Delayed gross motor development0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0002194HP:0002194Delayed gross motor development0TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0002194HP:0002194Delayed gross motor development0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0002194HP:0002194Delayed gross motor development0TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 681
HP:0002194HP:0002194Delayed gross motor development0TRMU CL E G H5568725481ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040284 - Very rare101
HP:0002194HP:0002194Delayed gross motor development0TRNE CL E G H45567479ORPHA:254864Mitochondrial myopathy with reversible cytochrome C oxidase deficiencyHP:0040284 - Very rare
HP:0002194HP:0002194Delayed gross motor development0TRNT1 CL E G H5109517341OMIM:616084SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD28
HP:0002194HP:0002194Delayed gross motor development0TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism2
HP:0002194HP:0002194Delayed gross motor development0TSEN15 CL E G H11646116791OMIM:617026Pontocerebellar hypoplasia, type 2F3
HP:0002194HP:0002194Delayed gross motor development0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002194HP:0002194Delayed gross motor development0TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0002194HP:0002194Delayed gross motor development0TTN CL E G H727312403ORPHA:324604Classic multiminicore myopathyHP:0040282 - Frequent7128
HP:0002194HP:0002194Delayed gross motor development0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0002194HP:0002194Delayed gross motor development0UBE2A CL E G H731912472ORPHA:163956X-linked intellectual disability, Nascimento typeHP:0040281 - Very frequent7
HP:0002194HP:0002194Delayed gross motor development0UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13278
HP:0002194HP:0002194Delayed gross motor development0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0002194HP:0002194Delayed gross motor development0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0002194HP:0002194Delayed gross motor development0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002194HP:0002194Delayed gross motor development0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002194HP:0002194Delayed gross motor development0WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0002194HP:0002194Delayed gross motor development0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome8
HP:0002194HP:0002194Delayed gross motor development0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome8
HP:0002194HP:0002194Delayed gross motor development0WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6
HP:0002194HP:0002194Delayed gross motor development0WLS CL E G H7997130238OMIM:619648ZAKI SYNDROME; ZKS
HP:0002194HP:0002194Delayed gross motor development0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0002194HP:0002194Delayed gross motor development0YARS1 CL E G H856512840OMIM:619418NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002194HP:0002194Delayed gross motor development0YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0002194HP:0002194Delayed gross motor development0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndrome7
HP:0002194HP:0002194Delayed gross motor development0ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69
HP:0002194HP:0002194Delayed gross motor development0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0002194HP:0002194Delayed gross motor development0ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutation362
HP:0002194HP:0002194Delayed gross motor development0ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22362
HP:0002194HP:0002194Delayed gross motor development0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies4
HP:0002194HP:0002194Delayed gross motor development0ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0002194HP:0002194Delayed gross motor development0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features5
HP:0002194HP:0033257Delayed ability to walk with support1 CL E G H
HP:0002194HP:0031936Delayed ability to walk1ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0002194HP:0031936Delayed ability to walk1ACTN2 CL E G H88164OMIM:618654MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ307
HP:0002194HP:0031936Delayed ability to walk1ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0002194HP:0025336Delayed ability to sit1ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0002194HP:0031936Delayed ability to walk1ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0002194HP:0032989Delayed ability to roll over1ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0002194HP:0025336Delayed ability to sit1ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0002194HP:0031936Delayed ability to walk1ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0002194HP:0031936Delayed ability to walk1ADGRL1 CL E G H2285920973OMIM:620065
HP:0002194HP:0025336Delayed ability to sit1ADGRL1 CL E G H2285920973OMIM:620065
HP:0002194HP:0031936Delayed ability to walk1AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040282 - Frequent36
HP:0002194HP:0025336Delayed ability to sit1AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0002194HP:0031936Delayed ability to walk1AHI1 CL E G H5480621575OMIM:608629Joubert syndrome 3.175
HP:0002194HP:0025335Delayed ability to stand1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0002194HP:0031936Delayed ability to walk1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0002194HP:0025336Delayed ability to sit1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0002194HP:0031936Delayed ability to walk1ALS2 CL E G H57679443ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent114
HP:0002194HP:0031936Delayed ability to walk1AMN CL E G H8169314604ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional25
HP:0002194HP:0031936Delayed ability to walk1AMPD2 CL E G H271469OMIM:615686Spastic paraplegia 63, autosomal recessive.21
HP:0002194HP:0031936Delayed ability to walk1AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0002194HP:0025336Delayed ability to sit1AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0002194HP:0031936Delayed ability to walk1ARID1B CL E G H5749218040OMIM:135900Coffin-Siris syndrome 1219
HP:0002194HP:0031936Delayed ability to walk1ARL13B CL E G H20089425419OMIM:612291JOUBERT SYNDROME 8; JBTS862
HP:0002194HP:0031936Delayed ability to walk1ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0002194HP:0031936Delayed ability to walk1ATG5 CL E G H9474589OMIM:617584Spinocerebellar ataxia, autosomal recessive 25.1
HP:0002194HP:0031936Delayed ability to walk1ATG7 CL E G H1053316935OMIM:619422SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR311
HP:0002194HP:0031936Delayed ability to walk1ATP10A CL E G H5719413542ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent4
HP:0002194HP:0032989Delayed ability to roll over1ATP6V0A1 CL E G H535865OMIM:6199701
HP:0002194HP:0031936Delayed ability to walk1ATP6V0A1 CL E G H535865OMIM:6199701
HP:0002194HP:0031936Delayed ability to walk1ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0002194HP:0031936Delayed ability to walk1BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0002194HP:0031936Delayed ability to walk1BRAT1 CL E G H22192721701OMIM:618056Neurodevelopmental disorder with cerebellar atrophy and with or without seizures.20
HP:0002194HP:0031936Delayed ability to walk1BRPF1 CL E G H786214255OMIM:617333Intellectual developmental disorder with dysmorphic facies and ptosis.10
HP:0002194HP:0031936Delayed ability to walk1BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent53
HP:0002194HP:0025335Delayed ability to stand1BSND CL E G H780916512ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent53
HP:0002194HP:0031936Delayed ability to walk1CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0002194HP:0031936Delayed ability to walk1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 53.1
HP:0002194HP:0031936Delayed ability to walk1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0002194HP:0025336Delayed ability to sit1CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0002194HP:0031936Delayed ability to walk1CCDC134 CL E G H7987926185OMIM:619795OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0002194HP:0025336Delayed ability to sit1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0002194HP:0031936Delayed ability to walk1CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder.8
HP:0002194HP:0031936Delayed ability to walk1CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002194HP:0032989Delayed ability to roll over1CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002194HP:0025336Delayed ability to sit1CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002194HP:0033128Delayed ability to crawl1CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002194HP:0031936Delayed ability to walk1CFL2 CL E G H10731875OMIM:610687Nemaline myopathy 735
HP:0002194HP:0031936Delayed ability to walk1CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 4016
HP:0002194HP:0031936Delayed ability to walk1CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0002194HP:0031936Delayed ability to walk1CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 819
HP:0002194HP:0025336Delayed ability to sit1CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0002194HP:0031936Delayed ability to walk1CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0002194HP:0025336Delayed ability to sit1CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel88
HP:0002194HP:0031936Delayed ability to walk1CLCN3 CL E G H11822021OMIM:619517NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA2
HP:0002194HP:0025335Delayed ability to stand1CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent9
HP:0002194HP:0031936Delayed ability to walk1CLCNKA CL E G H11872026ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent9
HP:0002194HP:0031936Delayed ability to walk1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent27
HP:0002194HP:0025335Delayed ability to stand1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent27
HP:0002194HP:0031936Delayed ability to walk1CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0002194HP:0025336Delayed ability to sit1CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0002194HP:0031936Delayed ability to walk1CNKSR2 CL E G H2286619701OMIM:301008MENTAL RETARDATION, X-LINKED, SYNDROMIC, HOUGE TYPE; MRXSHG18
HP:0002194HP:0031936Delayed ability to walk1CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002194HP:0031936Delayed ability to walk1CNTNAP2 CL E G H2604713830ORPHA:163681CNTNAP2-related developmental and epileptic encephalopathy518
HP:0002194HP:0031936Delayed ability to walk1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0002194HP:0031936Delayed ability to walk1COL12A1 CL E G H13032188OMIM:616471Bethlem myopathy 2.65
HP:0002194HP:0031936Delayed ability to walk1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040282 - Frequent65
HP:0002194HP:0025335Delayed ability to stand1COL12A1 CL E G H13032188ORPHA:536516Myopathic Ehlers-Danlos syndromeHP:0040282 - Frequent65
HP:0002194HP:0025336Delayed ability to sit1COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0002194HP:0031936Delayed ability to walk1COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0002194HP:0031936Delayed ability to walk1COPB1 CL E G H13152231OMIM:619255BARALLE-MACKEN SYNDROME; BARMACS
HP:0002194HP:0031936Delayed ability to walk1CPLX1 CL E G H108152309OMIM:617976Epileptic encephalopathy, early infantile, 63.1
HP:0002194HP:0031936Delayed ability to walk1CRBN CL E G H5118530185OMIM:607417Mental retardation, autosomal recessive 219
HP:0002194HP:0031936Delayed ability to walk1CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0002194HP:0031936Delayed ability to walk1CSNK2B CL E G H14602460OMIM:618732POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME; POBINDS2
HP:0002194HP:0031936Delayed ability to walk1CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0002194HP:0025336Delayed ability to sit1CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0002194HP:0033128Delayed ability to crawl1CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0002194HP:0031936Delayed ability to walk1CUBN CL E G H80292548ORPHA:35858Imerslund-Gräsbeck syndromeHP:0040283 - Occasional273
HP:0002194HP:0025336Delayed ability to sit1CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0002194HP:0031936Delayed ability to walk1CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0002194HP:0031936Delayed ability to walk1CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0002194HP:0031936Delayed ability to walk1CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0002194HP:0031936Delayed ability to walk1CYP3A4 CL E G H15762637OMIM:619073VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR32
HP:0002194HP:0025336Delayed ability to sit1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0002194HP:0031936Delayed ability to walk1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0002194HP:0031936Delayed ability to walk1DDOST CL E G H16502728OMIM:614507Congenital disorder of glycosylation, type IR62
HP:0002194HP:0031936Delayed ability to walk1DHPS CL E G H17252869OMIM:618480Neurodevelopmental disorder with seizures and speech and walking impairment.
HP:0002194HP:0031936Delayed ability to walk1DHX30 CL E G H2290716716OMIM:617804Neurodevelopmental disorder with severe motor impairment and absent language.4
HP:0002194HP:0031936Delayed ability to walk1DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0002194HP:0025335Delayed ability to stand1DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0002194HP:0031936Delayed ability to walk1DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.3
HP:0002194HP:0025335Delayed ability to stand1DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0002194HP:0031936Delayed ability to walk1DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0002194HP:0031936Delayed ability to walk1DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0002194HP:0025335Delayed ability to stand1DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0002194HP:0031936Delayed ability to walk1DPM3 CL E G H543443007OMIM:618992MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15; MDDGB159
HP:0002194HP:0031936Delayed ability to walk1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002194HP:0025336Delayed ability to sit1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002194HP:0031936Delayed ability to walk1DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0002194HP:0031936Delayed ability to walk1DYNC1I2 CL E G H17812964OMIM:618492Neurodevelopmental disorder with microcephaly and structural brain anomalies.1
HP:0002194HP:0031936Delayed ability to walk1EBF3 CL E G H25373819087OMIM:617330HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS25
HP:0002194HP:0031936Delayed ability to walk1EIF2AK1 CL E G H2710224921OMIM:618878LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
HP:0002194HP:0025336Delayed ability to sit1EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0002194HP:0031936Delayed ability to walk1EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0002194HP:0031936Delayed ability to walk1EP300 CL E G H20333373OMIM:618333MENKE-HENNEKAM SYNDROME 2; MKHK2250
HP:0002194HP:0031936Delayed ability to walk1ERLIN2 CL E G H111601356OMIM:611225Spastic paraplegia 18, autosomal recessive.18
HP:0002194HP:0031936Delayed ability to walk1EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0002194HP:0025336Delayed ability to sit1EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040282 - Frequent3
HP:0002194HP:0031936Delayed ability to walk1FAR1 CL E G H8418826222OMIM:619338CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY; CSPSD7
HP:0002194HP:0031936Delayed ability to walk1FASTKD2 CL E G H2286829160OMIM:618855COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44122
HP:0002194HP:0031936Delayed ability to walk1FBLN1 CL E G H21923600ORPHA:404451FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndromeHP:0040282 - Frequent12
HP:0002194HP:0031936Delayed ability to walk1FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0002194HP:0031936Delayed ability to walk1FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0002194HP:0031936Delayed ability to walk1FITM2 CL E G H12848616135OMIM:618635SIDDIQI SYNDROME; SIDDIS
HP:0002194HP:0031936Delayed ability to walk1FKBP14 CL E G H5503318625OMIM:614557Ehlers-Danlos syndrome, kyphoscoliotic type, 213
HP:0002194HP:0031936Delayed ability to walk1FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa111
HP:0002194HP:0025336Delayed ability to sit1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0002194HP:0031936Delayed ability to walk1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0002194HP:0031936Delayed ability to walk1FOXP1 CL E G H270863823OMIM:613670Mental retardation with language impairment and with or without autistic features184
HP:0002194HP:0031936Delayed ability to walk1FRMPD4 CL E G H975829007OMIM:300983MENTAL RETARDATION, X-LINKED 104; MRX10432
HP:0002194HP:0031936Delayed ability to walk1FUS CL E G H25214010ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent105
HP:0002194HP:0025335Delayed ability to stand1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0002194HP:0025336Delayed ability to sit1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0002194HP:0031936Delayed ability to walk1GALNS CL E G H25884122OMIM:253000Morquio syndrome A123
HP:0002194HP:0025336Delayed ability to sit1GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0002194HP:0031936Delayed ability to walk1GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0002194HP:0031936Delayed ability to walk1GARS1 CL E G H26174162OMIM:619042SPINAL MUSCULAR ATROPHY, INFANTILE, JAMES TYPE; SMAJI
HP:0002194HP:0025336Delayed ability to sit1GNAI1 CL E G H27704384OMIM:619854
HP:0002194HP:0031936Delayed ability to walk1GNAI1 CL E G H27704384OMIM:619854
HP:0002194HP:0031936Delayed ability to walk1GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta240
HP:0002194HP:0031936Delayed ability to walk1GRIA4 CL E G H28934574OMIM:617864Neurodevelopmental disorder with or without seizures and gait abnormalities.
HP:0002194HP:0025336Delayed ability to sit1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002194HP:0031936Delayed ability to walk1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0002194HP:0031936Delayed ability to walk1GRIN1 CL E G H29024584ORPHA:208447Bilateral generalized polymicrogyriaHP:0040281 - Very frequent108
HP:0002194HP:0025336Delayed ability to sit1GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0002194HP:0025336Delayed ability to sit1GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0002194HP:0031936Delayed ability to walk1H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002194HP:0025336Delayed ability to sit1H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002194HP:0031936Delayed ability to walk1HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0002194HP:0031936Delayed ability to walk1HECW2 CL E G H5752029853OMIM:617268Neurodevelopmental disorder with hypotonia, seizures, and absent language.11
HP:0002194HP:0031936Delayed ability to walk1HERC2 CL E G H89244868OMIM:615516Mental retardation, autosomal recessive 3838
HP:0002194HP:0033128Delayed ability to crawl1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0002194HP:0031936Delayed ability to walk1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0002194HP:0025336Delayed ability to sit1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0002194HP:0031936Delayed ability to walk1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0002194HP:0025336Delayed ability to sit1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0002194HP:0031936Delayed ability to walk1HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040282 - Frequent8
HP:0002194HP:0031936Delayed ability to walk1HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040282 - Frequent8
HP:0002194HP:0031936Delayed ability to walk1HS6ST2 CL E G H9016119133OMIM:301025Paganini-Miozzo syndrome.
HP:0002194HP:0031936Delayed ability to walk1HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0002194HP:0031936Delayed ability to walk1HYCC1 CL E G H8466824587OMIM:610532Leukodystrophy, hypomyelinating, 5
HP:0002194HP:0025336Delayed ability to sit1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0002194HP:0031936Delayed ability to walk1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0002194HP:0031936Delayed ability to walk1IQSEC1 CL E G H992229112OMIM:618687INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES; IDDSSBA
HP:0002194HP:0025335Delayed ability to stand1ITPR1 CL E G H37086180OMIM:206700Gillespie syndrome177
HP:0002194HP:0031936Delayed ability to walk1ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29177
HP:0002194HP:0031936Delayed ability to walk1JAG1 CL E G H1826188OMIM:619574CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH; CMT2HH257
HP:0002194HP:0031936Delayed ability to walk1KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002194HP:0025336Delayed ability to sit1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0002194HP:0031936Delayed ability to walk1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0002194HP:0031936Delayed ability to walk1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040282 - Frequent3
HP:0002194HP:0031936Delayed ability to walk1KDM3B CL E G H517801337OMIM:618846DIETS-JONGMANS SYNDROME; DIJOS
HP:0002194HP:0031936Delayed ability to walk1KDM5B CL E G H1076518039OMIM:618109Mental retardation, autosomal recessive 65.2
HP:0002194HP:0025335Delayed ability to stand1KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0002194HP:0031936Delayed ability to walk1KLHL15 CL E G H8031129347OMIM:300982MENTAL RETARDATION, X-LINKED 103; MRX1033
HP:0002194HP:0031936Delayed ability to walk1KMT2E CL E G H5590418541OMIM:618512O'donnell-Luria-Rodan syndrome.1
HP:0002194HP:0031936Delayed ability to walk1KPTN CL E G H111336404ORPHA:397612Macrocephaly-developmental delay syndromeHP:0040282 - Frequent13
HP:0002194HP:0031936Delayed ability to walk1LAMA2 CL E G H39086482OMIM:618138MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23; LGMDR23411
HP:0002194HP:0025336Delayed ability to sit1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0002194HP:0031936Delayed ability to walk1LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0002194HP:0031936Delayed ability to walk1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0002194HP:0031936Delayed ability to walk1LMNB1 CL E G H40016637OMIM:619179MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH2644
HP:0002194HP:0031936Delayed ability to walk1LMNB2 CL E G H848236638OMIM:619180MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH2711
HP:0002194HP:0031936Delayed ability to walk1LRRC32 CL E G H26154161OMIM:619074CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002194HP:0031936Delayed ability to walk1LSS CL E G H40476708OMIM:618840ALOPECIA-INTELLECTUAL DISABILITY SYNDROME 4; APMR42
HP:0002194HP:0031936Delayed ability to walk1MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0002194HP:0025336Delayed ability to sit1MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0002194HP:0031936Delayed ability to walk1MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0002194HP:0031936Delayed ability to walk1MAPK8IP3 CL E G H231626884OMIM:618443Neurodevelopmental disorder with or without variable brain abnormalities.
HP:0002194HP:0025336Delayed ability to sit1MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0002194HP:0031936Delayed ability to walk1MBOAT7 CL E G H7914315505OMIM:617188Mental retardation, autosomal recessive 57.5
HP:0002194HP:0031936Delayed ability to walk1MCM3AP CL E G H88886946OMIM:618124Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development3
HP:0002194HP:0033128Delayed ability to crawl1MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0002194HP:0025336Delayed ability to sit1MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0002194HP:0032989Delayed ability to roll over1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002194HP:0025336Delayed ability to sit1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002194HP:0031936Delayed ability to walk1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002194HP:0031936Delayed ability to walk1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002194HP:0025336Delayed ability to sit1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0002194HP:0031936Delayed ability to walk1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0002194HP:0025336Delayed ability to sit1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0002194HP:0031936Delayed ability to walk1MEGF8 CL E G H19543233OMIM:614976Carpenter syndrome 213
HP:0002194HP:0031936Delayed ability to walk1MID1 CL E G H42817095ORPHA:2745Opitz GBBB syndromeHP:0040283 - Occasional57
HP:0002194HP:0031936Delayed ability to walk1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0002194HP:0025336Delayed ability to sit1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0002194HP:0031936Delayed ability to walk1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
HP:0002194HP:0025335Delayed ability to stand1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0002194HP:0031936Delayed ability to walk1MRAS CL E G H228087227OMIM:618499NOONAN SYNDROME 11; NS11
HP:0002194HP:0031936Delayed ability to walk1MRPS14 CL E G H6393114049OMIM:618378Combined oxidative phosphorylation deficiency 38.
HP:0002194HP:0033128Delayed ability to crawl1MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0002194HP:0032989Delayed ability to roll over1MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0002194HP:0031936Delayed ability to walk1MRPS25 CL E G H6443214511OMIM:619025COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0002194HP:0031936Delayed ability to walk1MSL3 CL E G H109437370OMIM:301032BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002194HP:0031936Delayed ability to walk1MTPAP CL E G H5514925532OMIM:613672Spastic ataxia 4, autosomal recessive.19
HP:0002194HP:0031936Delayed ability to walk1MYO9A CL E G H46497608OMIM:618198Myasthenic syndrome, congenital, 24, presynaptic.
HP:0002194HP:0031936Delayed ability to walk1MYT1L CL E G H230407623OMIM:616521Mental retardation, autosomal dominant 3913
HP:0002194HP:0025336Delayed ability to sit1NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002194HP:0031936Delayed ability to walk1NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002194HP:0031936Delayed ability to walk1NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002194HP:0025336Delayed ability to sit1NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0002194HP:0031936Delayed ability to walk1NBEA CL E G H269607648OMIM:619157NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY; NEDEGE3
HP:0002194HP:0031936Delayed ability to walk1NCAPG2 CL E G H5489221904OMIM:618460Khan-Khan-Katsanis syndrome.2
HP:0002194HP:0031936Delayed ability to walk1NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0002194HP:0031936Delayed ability to walk1NDUFA1 CL E G H46947683OMIM:301020Mitochondrial complex I deficiency, nuclear type 12.7
HP:0002194HP:0031936Delayed ability to walk1NDUFA12 CL E G H5596723987OMIM:618244Mitochondrial complex I deficiency, nuclear type 23.7
HP:0002194HP:0032989Delayed ability to roll over1NDUFA8 CL E G H47027692OMIM:619272MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002194HP:0031936Delayed ability to walk1NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0002194HP:0025336Delayed ability to sit1NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0002194HP:0025336Delayed ability to sit1NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0002194HP:0031936Delayed ability to walk1NFASC CL E G H2311429866OMIM:618356Neurodevelopmental disorder with central and peripheral motor dysfunction.
HP:0002194HP:0031936Delayed ability to walk1NFIX CL E G H47847788OMIM:602535Marshall-Smith syndrome40
HP:0002194HP:0025336Delayed ability to sit1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0002194HP:0031936Delayed ability to walk1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002194HP:0031936Delayed ability to walk1NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0002194HP:0031936Delayed ability to walk1NUDT2 CL E G H3188049OMIM:619844
HP:0002194HP:0031936Delayed ability to walk1ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0002194HP:0031936Delayed ability to walk1OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0002194HP:0025336Delayed ability to sit1OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0002194HP:0031936Delayed ability to walk1P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0002194HP:0031936Delayed ability to walk1PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0002194HP:0025336Delayed ability to sit1PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040282 - Frequent231
HP:0002194HP:0031936Delayed ability to walk1PAK1 CL E G H50588590OMIM:618158Intellectual developmental disorder with macrocephaly, seizures, and speech delay.
HP:0002194HP:0031936Delayed ability to walk1PAK3 CL E G H50638592OMIM:300558MENTAL RETARDATION, X-LINKED 30; MRX3027
HP:0002194HP:0031936Delayed ability to walk1PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0002194HP:0025336Delayed ability to sit1PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0002194HP:0031936Delayed ability to walk1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0002194HP:0033128Delayed ability to crawl1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0002194HP:0025336Delayed ability to sit1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0002194HP:0032989Delayed ability to roll over1PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0002194HP:0025335Delayed ability to stand1PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemiaHP:0040282 - Frequent217
HP:0002194HP:0031936Delayed ability to walk1PHEX CL E G H52518918ORPHA:89936X-linked hypophosphatemiaHP:0040282 - Frequent217
HP:0002194HP:0031936Delayed ability to walk1PIEZO2 CL E G H6389526270OMIM:617146Arthrogryposis, distal, with impaired proprioception and touch.77
HP:0002194HP:0031936Delayed ability to walk1PIGC CL E G H52798960OMIM:617816Glycosylphosphatidylinositol biosynthesis defect 16.1
HP:0002194HP:0031936Delayed ability to walk1PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040282 - Frequent7
HP:0002194HP:0031936Delayed ability to walk1PIGO CL E G H8472023215OMIM:614749Hyperphosphatasia with mental retardation syndrome 284
HP:0002194HP:0031936Delayed ability to walk1PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1105
HP:0002194HP:0031936Delayed ability to walk1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040281 - Very frequent60
HP:0002194HP:0025336Delayed ability to sit1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0002194HP:0031936Delayed ability to walk1PMPCA CL E G H2320318667ORPHA:1170Autosomal recessive cerebelloparenchymal disorder type 3HP:0040281 - Very frequent7
HP:0002194HP:0031936Delayed ability to walk1PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathyHP:0040284 - Very rare65
HP:0002194HP:0031936Delayed ability to walk1POLR1C CL E G H953320194OMIM:616494Leukodystrophy, hypomyelinating, 1138
HP:0002194HP:0025336Delayed ability to sit1POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002194HP:0031936Delayed ability to walk1POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002194HP:0031936Delayed ability to walk1POLR3B CL E G H5570330348OMIM:619742CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I67
HP:0002194HP:0025336Delayed ability to sit1POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0002194HP:0031936Delayed ability to walk1POMK CL E G H8419726267OMIM:616094Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1218
HP:0002194HP:0031936Delayed ability to walk1PPP2CA CL E G H55159299OMIM:618354Neurodevelopmental disorder and language delay with or without structural brain abnormalities.2
HP:0002194HP:0031936Delayed ability to walk1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040281 - Very frequent10
HP:0002194HP:0031936Delayed ability to walk1PPP2R5D CL E G H55289312OMIM:616355Mental retardation, autosomal dominant 3510
HP:0002194HP:0031936Delayed ability to walk1PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0002194HP:0031936Delayed ability to walk1PUS7 CL E G H5451726033OMIM:618342Intellectual developmental disorder with abnormal behavior, microcephaly, and short statureHP:0040284 - Very rare
HP:0002194HP:0031936Delayed ability to walk1RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0002194HP:0031936Delayed ability to walk1RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0002194HP:0031936Delayed ability to walk1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0002194HP:0025336Delayed ability to sit1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0002194HP:0031936Delayed ability to walk1RAI1 CL E G H107439834ORPHA:477817PMP22-RAI1 contiguous gene duplication syndromeHP:0040281 - Very frequent150
HP:0002194HP:0031936Delayed ability to walk1RALA CL E G H58989839OMIM:619311HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME; HINCONS
HP:0002194HP:0025336Delayed ability to sit1RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0002194HP:0031936Delayed ability to walk1RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0002194HP:0033128Delayed ability to crawl1RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0002194HP:0031936Delayed ability to walk1REPS1 CL E G H8502115578OMIM:617916Neurodegeneration with brain iron accumulation 7.
HP:0002194HP:0025336Delayed ability to sit1ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0002194HP:0031936Delayed ability to walk1RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0002194HP:0031936Delayed ability to walk1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002194HP:0031936Delayed ability to walk1RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0002194HP:0031936Delayed ability to walk1RUSC2 CL E G H985323625OMIM:617773Mental retardation, autosomal recessive 61.
HP:0002194HP:0031936Delayed ability to walk1RYR1 CL E G H626110483OMIM:117000Central core disease1200
HP:0002194HP:0031936Delayed ability to walk1RYR1 CL E G H626110483OMIM:619542KING-DENBOROUGH SYNDROME; KDS1200
HP:0002194HP:0031936Delayed ability to walk1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002194HP:0025336Delayed ability to sit1SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002194HP:0025335Delayed ability to stand1SCN2A CL E G H632610588OMIM:618924EPISODIC ATAXIA, TYPE 9; EA9427
HP:0002194HP:0031936Delayed ability to walk1SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0002194HP:0025335Delayed ability to stand1SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0002194HP:0025336Delayed ability to sit1SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP: