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: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:0032989Delayed ability to roll over1ADCY5 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:0025336Delayed ability to sit1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
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: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:0025336Delayed ability to sit1AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0002194HP:0031936Delayed ability to walk1AP3B2 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:0033128Delayed ability to crawl1CELF2 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:0032989Delayed ability to roll over1CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002194HP:0031936Delayed ability to walk1CELF2 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:0031936Delayed ability to walk1CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0002194HP:0025336Delayed ability to sit1CHRNB1 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:0025335Delayed ability to stand1CLCNKB CL E G H11882027ORPHA:89938Infantile Bartter syndrome with sensorineural deafnessHP:0040282 - Frequent27
HP:0002194HP:0031936Delayed ability to walk1CLCNKB 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:0031936Delayed ability to walk1CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0002194HP:0025336Delayed ability to sit1CUL3 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:0031936Delayed ability to walk1DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
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 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:0025335Delayed ability to stand1DLAT CL E G H17372896ORPHA:79244Pyruvate dehydrogenase E2 deficiencyHP:0040282 - Frequent82
HP:0002194HP:0031936Delayed ability to walk1DLAT 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:0031936Delayed ability to walk1DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0002194HP:0025335Delayed ability to stand1DOLK 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:0025336Delayed ability to sit1DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002194HP:0031936Delayed ability to walk1DPYSL5 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:0031936Delayed ability to walk1FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0002194HP:0025336Delayed ability to sit1FOXG1 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:0025336Delayed ability to sit1GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
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: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:0031936Delayed ability to walk1GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
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 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: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:0033128Delayed ability to crawl1HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0002194HP:0025336Delayed ability to sit1HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0002194HP:0031936Delayed ability to walk1HK1 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:0031936Delayed ability to walk1KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0002194HP:0025336Delayed ability to sit1KAT6A 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:0025336Delayed ability to sit1MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0002194HP:0033128Delayed ability to crawl1MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0002194HP:0025336Delayed ability to sit1MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0002194HP:0032989Delayed ability to roll over1MECP2 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:0025336Delayed ability to sit1MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0002194HP:0031936Delayed ability to walk1MEF2C 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:0025336Delayed ability to sit1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0002194HP:0031936Delayed ability to walk1MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0002194HP:0025335Delayed ability to stand1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2134
HP:0002194HP:0031936Delayed ability to walk1MPZ CL E G H43597225OMIM:618184Neuropathy, congenital hypomyelinating, 2.134
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: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:0033128Delayed ability to crawl1MRPS25 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:0031936Delayed ability to walk1NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0002194HP:0025336Delayed ability to sit1NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
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 walk1NARS1 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:0025336Delayed ability to sit1OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0002194HP:0031936Delayed ability to walk1OPHN1 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:0032989Delayed ability to roll over1PGAP1 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: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: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:0025336Delayed ability to sit1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0002194HP:0031936Delayed ability to walk1PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040281 - Very 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:0031936Delayed ability to walk1POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
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 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: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:0025336Delayed ability to sit1RBL2 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:0025336Delayed ability to sit1SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
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:0031936Delayed ability to walk1SELENON CL E G H5719015999OMIM:602771Rigid spine muscular dystrophy 1144
HP:0002194HP:0031936Delayed ability to walk1SEMA6B CL E G H1050110739OMIM:618876EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0002194HP:0031936Delayed ability to walk1SET CL E G H641810760OMIM:618106Mental retardation, autosomal dominant 58.1
HP:0002194HP:0031936Delayed ability to walk1SETD5 CL E G H5520925566OMIM:615761MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD2343
HP:0002194HP:0031936Delayed ability to walk1SHMT2 CL E G H647210852OMIM:619121NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002194HP:0031936Delayed ability to walk1SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0002194HP:0031936Delayed ability to walk1SIGMAR1 CL E G H102808157ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent6
HP:0002194HP:0025336Delayed ability to sit1SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002194HP:0031936Delayed ability to walk1SLC12A2 CL E G H655810911OMIM:619083DELPIRE-MCNEILL SYNDROME; DELMNES2
HP:0002194HP:0031936Delayed ability to walk1SLC16A2 CL E G H656710923ORPHA:59Allan-Herndon-Dudley syndromeHP:0040282 - Frequent57
HP:0002194HP:0025336Delayed ability to sit1SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0002194HP:0031936Delayed ability to walk1SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 2.2
HP:0002194HP:0031936Delayed ability to walk1SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0002194HP:0031936Delayed ability to walk1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0002194HP:0032989Delayed ability to roll over1SLC25A12 CL E G H860410982OMIM:612949Epileptic encephalopathy, early infantile, 3944
HP:0002194HP:0031936Delayed ability to walk1SLC25A42 CL E G H28443928380OMIM:618416Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression.1
HP:0002194HP:0031936Delayed ability to walk1SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0002194HP:0025336Delayed ability to sit1SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN11
HP:0002194HP:0031936Delayed ability to walk1SLC5A7 CL E G H6048214025OMIM:617143Myasthenic syndrome, congenital, 20, presynaptic.9
HP:0002194HP:0031936Delayed ability to walk1SLC9A7 CL E G H8467917123OMIM:301024Intellectual developmental disorder, X-linked 108.
HP:0002194HP:0031936Delayed ability to walk1SMARCA2 CL E G H659511098OMIM:619293BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS146
HP:0002194HP:0031936Delayed ability to walk1SMARCD1 CL E G H660211106OMIM:618779COFFIN-SIRIS SYNDROME 11; CSS11
HP:0002194HP:0031936Delayed ability to walk1SMC1A CL E G H824311111OMIM:301044DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85135
HP:0002194HP:0031936Delayed ability to walk1SNAP25 CL E G H661611132OMIM:616330Myasthenic syndrome, congenital, 182
HP:0002194HP:0031936Delayed ability to walk1SNRPN CL E G H663811164ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent37
HP:0002194HP:0025336Delayed ability to sit1SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0002194HP:0025336Delayed ability to sit1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002194HP:0033128Delayed ability to crawl1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002194HP:0031936Delayed ability to walk1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002194HP:0032989Delayed ability to roll over1SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0002194HP:0031936Delayed ability to walk1SPG11 CL E G H8020811226ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent287
HP:0002194HP:0031936Delayed ability to walk1SPOP CL E G H840511254OMIM:618828NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS116
HP:0002194HP:0031936Delayed ability to walk1SPOP CL E G H840511254OMIM:618829NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS216
HP:0002194HP:0031936Delayed ability to walk1SPTLC1 CL E G H1055811277ORPHA:300605Juvenile amyotrophic lateral sclerosisHP:0040282 - Frequent54
HP:0002194HP:0031936Delayed ability to walk1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0002194HP:0031936Delayed ability to walk1STAG2 CL E G H1073511355OMIM:301022Neurodevelopmental disorder, X-linked, with craniofacial abnormalities.1
HP:0002194HP:0031936Delayed ability to walk1SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type1129
HP:0002194HP:0031936Delayed ability to walk1SYT1 CL E G H685711509OMIM:618218Baker-Gordon syndrome.1
HP:0002194HP:0032989Delayed ability to roll over1TAF8 CL E G H12968517300OMIM:619972
HP:0002194HP:0025336Delayed ability to sit1TAF8 CL E G H12968517300OMIM:619972
HP:0002194HP:0031936Delayed ability to walk1TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040282 - Frequent12
HP:0002194HP:0031936Delayed ability to walk1TBR1 CL E G H1071611590OMIM:606053Intellectual developmental disorder with autism and speech delay.1
HP:0002194HP:0031936Delayed ability to walk1TCF20 CL E G H694211631OMIM:618430Developmental delay with variable intellectual impairment and behavioral abnormalities.1
HP:0002194HP:0031936Delayed ability to walk1TFG CL E G H1034211758OMIM:615658Spastic paraplegia 57, autosomal recessive18
HP:0002194HP:0031936Delayed ability to walk1TIMM50 CL E G H9260923656ORPHA:5052163-methylglutaconic aciduria type 9HP:0040281 - Very frequent1
HP:0002194HP:0031936Delayed ability to walk1TIMM50 CL E G H9260923656OMIM:6176983-methylglutaconic aciduria, type IX.1
HP:0002194HP:0031936Delayed ability to walk1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0002194HP:0031936Delayed ability to walk1TMEM147 CL E G H1043030414OMIM:620075
HP:0002194HP:0031936Delayed ability to walk1TMEM222 CL E G H8406525363OMIM:619470NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002194HP:0031936Delayed ability to walk1TMEM63A CL E G H972529118OMIM:618688LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE; HLD19
HP:0002194HP:0031936Delayed ability to walk1TMEM94 CL E G H977228983OMIM:618316Intellectual developmental disorder with cardiac defects and dysmorphic facies.1
HP:0002194HP:0031936Delayed ability to walk1TMTC3 CL E G H16041826899OMIM:617255Lissencephaly 8.5
HP:0002194HP:0031936Delayed ability to walk1TNPO3 CL E G H2353417103OMIM:608423Muscular dystrophy, limb-girdle, autosomal dominant 2HP:0040284 - Very rare71
HP:0002194HP:0031936Delayed ability to walk1TRAPPC10 CL E G H710911868OMIM:6200271
HP:0002194HP:0031936Delayed ability to walk1TRAPPC9 CL E G H8369630832OMIM:613192Mental retardation, autosomal recessive 13.158
HP:0002194HP:0031936Delayed ability to walk1TRIM2 CL E G H2332115974OMIM:615490Charcot-Marie-Tooth disease, axonal, type 2R.3
HP:0002194HP:0031936Delayed ability to walk1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0002194HP:0025336Delayed ability to sit1TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0002194HP:0031936Delayed ability to walk1TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0002194HP:0025336Delayed ability to sit1TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0002194HP:0031936Delayed ability to walk1TRIO CL E G H720412303OMIM:617061Mental retardation, autosomal dominant 448
HP:0002194HP:0031936Delayed ability to walk1TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 3512
HP:0002194HP:0031936Delayed ability to walk1TRMT1 CL E G H5562125980OMIM:618302Intellectual developmental disorder, autosomal recessive 68.1
HP:0002194HP:0031936Delayed ability to walk1TRRAP CL E G H829512347OMIM:618454Developmental delay with or without dysmorphic facies and autism.2
HP:0002194HP:0025335Delayed ability to stand1TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002194HP:0025336Delayed ability to sit1TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002194HP:0031936Delayed ability to walk1TTI2 CL E G H8018526262OMIM:615541Mental retardation, autosomal recessive 3911
HP:0002194HP:0025336Delayed ability to sit1TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0002194HP:0031936Delayed ability to walk1UBE3A CL E G H733712496ORPHA:411515Angelman syndrome due to imprinting defect in 15q11-q13HP:0040282 - Frequent278
HP:0002194HP:0025336Delayed ability to sit1UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0002194HP:0025336Delayed ability to sit1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0002194HP:0032989Delayed ability to roll over1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0002194HP:0025336Delayed ability to sit1VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002194HP:0025336Delayed ability to sit1WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002194HP:0031936Delayed ability to walk1WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002194HP:0031936Delayed ability to walk1WASHC4 CL E G H2332529174OMIM:615817Mental retardation, autosomal recessive 4325
HP:0002194HP:0025336Delayed ability to sit1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0002194HP:0031936Delayed ability to walk1WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0002194HP:0031936Delayed ability to walk1WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0002194HP:0031936Delayed ability to walk1WDR4 CL E G H1078512756OMIM:618347Galloway-Mowat syndrome 6.
HP:0002194HP:0031936Delayed ability to walk1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0002194HP:0032989Delayed ability to roll over1YIF1B CL E G H9052230511OMIM:619125KAYA-BARAKAT-MASSON SYNDROME; KABAMAS
HP:0002194HP:0031936Delayed ability to walk1YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040282 - Frequent7
HP:0002194HP:0031936Delayed ability to walk1ZBTB11 CL E G H2710716740OMIM:618383Intellectual developmental disorder, autosomal recessive 69
HP:0002194HP:0031936Delayed ability to walk1ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0002194HP:0031936Delayed ability to walk1ZEB2 CL E G H983914881ORPHA:261552Mowat-Wilson syndrome due to a ZEB2 point mutationHP:0040282 - Frequent362
HP:0002194HP:0031936Delayed ability to walk1ZEB2 CL E G H983914881ORPHA:261537Mowat-Wilson syndrome due to monosomy 2q22HP:0040282 - Frequent362
HP:0002194HP:0031936Delayed ability to walk1ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0002194HP:0025335Delayed ability to stand1ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0002194HP:0031936Delayed ability to walk1ZNF407 CL E G H5562819904OMIM:619557SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES; SIMHA68
HP:0002194HP:0031936Delayed ability to walk1ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5


Genes (396) :ABCA2 ACTN2 ADARB1 ADCY5 ADGRL1 AGRN AHDC1 AHI1 AK9 ALG12 ALMS1 ALS2 AMN AMPD2 AP3B2 APC2 ARID1B ARL13B ASXL3 ATG5 ATG7 ATP10A ATP1A1 ATP6V0A1 ATP6V1A BCAS3 BCL11B BCORL1 BIN1 BMP1 BRAT1 BRPF1 BSND CACNA1C CADM3 CAMK2A CARS1 CASK CCDC134 CDC40 CDH2 CDK13 CDKL5 CELF2 CFL2 CHAMP1 CHD3 CHKA CHMP1A CHRNA1 CHRNB1 CHRND CHRNE CHST14 CHST3 CLCN3 CLCN7 CLCNKA CLCNKB CLDN11 CLP1 CLPB CNKSR2 CNOT3 CNTNAP2 COG1 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 COL3A1 COPB1 CPLX1 CRBN CREBBP CSNK2B CTNNB1 CUBN CUL3 CWC27 CYP2U1 CYP3A4 DAG1 DDOST DHPS DHX30 DLAT DLK1 DMD DNAJC19 DNASE2 DNM2 DOCK3 DOK7 DOLK DPF2 DPH2 DPM3 DPYSL5 DSE DYNC1H1 DYNC1I2 EBF3 EHMT1 EIF2AK1 EIF3F EP300 ERLIN2 EXOC6B EXTL3 FAR1 FASTKD2 FBLN1 FBXL3 FBXO11 FDXR FGF3 FIG4 FITM2 FKBP14 FKRP FLRT1 FLVCR1 FNIP1 FOXG1 FOXP1 FRMPD4 FTSJ1 FUS GAA GABBR2 GALE GALNS GALNT2 GARS1 GJC2 GLS GNAI1 GNPTAB GRIA1 GRIA4 GRIK2 GRIN1 GRIN2B H3-3A HARS1 HDAC4 HECW2 HERC2 HIVEP2 HK1 HNRNPK HOXA1 HS6ST2 HUWE1 HYCC1 INPP5E IQSEC1 ITPR1 JAG1 KARS1 KAT6A KAT8 KCNK4 KDM1A KDM3B KDM4B KDM5B KIAA0753 KIDINS220 KIF14 KLC2 KLHL15 KMT2A KMT2C KMT2E KPTN KY LAMA2 LARGE1 LARS1 LBR LMNB1 LMNB2 LRP4 LRP5 LRRC32 LSS MACF1 MAGEL2 MAPK8IP3 MBD5 MBOAT7 MCM3AP MDH2 MECP2 MECR MED13 MEF2C MEG3 MEGF8 MESD MFN2 MID1 MINPP1 MKS1 MORC2 MPZ MRAS MRPS14 MRPS25 MSL3 MTMR14 MTPAP MUSK MYF6 MYH7 MYO9A MYT1L NAA10 NARS1 NBEA NCAPG2 NCDN NDST1 NDUFA1 NDUFA12 NDUFA8 NEUROD2 NEXMIF NFASC NFIX NGLY1 NMNAT1 NONO NPHP1 NTNG1 NUBPL NUDT2 ODC1 OGDH OPHN1 OTUD6B P4HTM PACS2 PAFAH1B1 PAK1 PAK3 PCYT2 PGAP1 PHEX PHKA2 PHKB PHKG2 PI4KA PIEZO2 PIGC PIGG PIGO PLEC PLOD1 PLP1 PMPCA PNP PNPLA2 POLR1C POLR2A POLR3B POLR3K POMK POMT2 PPP2CA PPP2R1A PPP2R5D PRIM1 PRMT7 PTEN PUS7 RAB11B RAB3GAP1 RAB3GAP2 RAI1 RALA RAPSN RBL2 RBPJ REPS1 RNU12 ROBO3 RORA RPL10 RTL1 RUBCN RUSC2 RYR1 SATB1 SCN2A SCN4A SDHB SELENOI SELENON SEMA6B SET SETD5 SHMT2 SHOC2 SIGMAR1 SIK3 SLC12A2 SLC16A2 SLC18A2 SLC25A1 SLC25A12 SLC25A42 SLC37A4 SLC39A8 SLC5A7 SLC6A3 SLC9A7 SMARCA2 SMARCD1 SMC1A SMPD1 SNAP25 SNRPN SNX14 SON SPG11 SPOP SPTBN4 SPTLC1 SRCAP STAG2 SUCLA2 SUPT16H SYNE1 SYT1 TAF1 TAF8 TANGO2 TBR1 TCF20 TET3 TFG TGFB3 TIMM50 TK2 TMEM106B TMEM147 TMEM222 TMEM63A TMEM63C TMEM94 TMTC3 TNFRSF11B TNNT1 TNPO3 TNRC6B TRAPPC10 TRAPPC6B TRAPPC9 TRIM2 TRIM8 TRIO TRIT1 TRMT1 TRMU TRNE TRNT1 TRRAP TSEN15 TTC5 TTI2 TTN TUBB3 UBE2A UBE3A UGDH VPS35L VPS51 WASF1 WASHC4 WDR26 WDR4 WLS XYLT1 YARS1 YIF1B YY1 ZBTB11 ZC4H2 ZEB2 ZNF148 ZNF407 ZSWIM6

Diseases (402) :OMIM:618808 OMIM:618654 OMIM:618862 OMIM:606703 ORPHA:324588 OMIM:619651 OMIM:620065 ORPHA:98913 ORPHA:412069 OMIM:615829 OMIM:608629 ORPHA:79324 ORPHA:64 ORPHA:300605 ORPHA:35858 ORPHA:401805 OMIM:615686 OMIM:617276 OMIM:618677 OMIM:135900 OMIM:612291 OMIM:615485 OMIM:617584 OMIM:619422 ORPHA:411515 ORPHA:564178 OMIM:619970 OMIM:618012 OMIM:619641 OMIM:618092 OMIM:301029 ORPHA:169189 OMIM:614856 OMIM:618056 OMIM:617333 ORPHA:89938 OMIM:620029 OMIM:619519 OMIM:617798 OMIM:618891 OMIM:300749 OMIM:619795 OMIM:619302 OMIM:618929 OMIM:617360 ORPHA:3095 ORPHA:505652 OMIM:619561 OMIM:610687 OMIM:616579 OMIM:618205 OMIM:620023 OMIM:614961 OMIM:616313 OMIM:616321 OMIM:601776 ORPHA:2953 OMIM:143095 OMIM:619512 OMIM:619517 OMIM:618541 OMIM:619328 ORPHA:411493 ORPHA:445038 OMIM:301008 OMIM:618672 ORPHA:163681 OMIM:610042 OMIM:611209 OMIM:616471 ORPHA:536516 OMIM:130060 OMIM:617821 OMIM:151210 OMIM:618343 OMIM:619255 OMIM:617976 OMIM:607417 OMIM:618332 OMIM:618732 OMIM:615075 OMIM:619239 ORPHA:166035 OMIM:250410 OMIM:615030 OMIM:619073 ORPHA:370997 OMIM:614507 OMIM:618480 OMIM:617804 OMIM:245348 ORPHA:79244 ORPHA:254534 OMIM:310200 ORPHA:66634 OMIM:619858 OMIM:618292 ORPHA:91131 OMIM:618027 OMIM:620062 OMIM:618992 OMIM:619435 OMIM:615539 OMIM:158600 OMIM:618492 OMIM:617330 ORPHA:261652 OMIM:618878 OMIM:618295 OMIM:618333 OMIM:613684 OMIM:611225 OMIM:618395 ORPHA:508533 OMIM:619338 OMIM:618855 ORPHA:404451 OMIM:606220 OMIM:618089 ORPHA:543470 OMIM:610706 ORPHA:208441 OMIM:618635 OMIM:614557 OMIM:606612 ORPHA:320406 OMIM:609033 ORPHA:88628 OMIM:619705 OMIM:613454 OMIM:613670 OMIM:300983 OMIM:309549 ORPHA:308552 OMIM:230350 OMIM:253000 OMIM:618885 OMIM:619042 ORPHA:320401 OMIM:618412 OMIM:619854 OMIM:252500 OMIM:619927 OMIM:617864 OMIM:619580 ORPHA:208447 OMIM:617820 OMIM:616139 OMIM:619720 OMIM:614504 OMIM:619797 OMIM:617268 OMIM:615516 OMIM:616977 OMIM:618547 ORPHA:352665 ORPHA:453504 OMIM:601536 OMIM:301025 OMIM:309590 OMIM:610532 OMIM:213300 OMIM:618687 OMIM:206700 OMIM:117360 ORPHA:208513 OMIM:619574 OMIM:619147 OMIM:616268 OMIM:618974 OMIM:618381 ORPHA:477993 OMIM:618846 OMIM:619320 OMIM:618109 OMIM:619479 OMIM:617296 ORPHA:521390 OMIM:617914 OMIM:300982 ORPHA:319182 OMIM:618512 ORPHA:397612 ORPHA:496689 OMIM:618138 OMIM:608840 OMIM:615438 OMIM:618019 OMIM:619179 OMIM:619180 OMIM:212780 ORPHA:2788 OMIM:619074 OMIM:618840 OMIM:618325 OMIM:615547 OMIM:618443 OMIM:156200 OMIM:617188 OMIM:618124 OMIM:617339 OMIM:300260 OMIM:300055 OMIM:617282 OMIM:618009 OMIM:613443 OMIM:614976 OMIM:618644 OMIM:617087 ORPHA:2745 OMIM:619527 OMIM:249000 OMIM:619090 OMIM:618184 OMIM:618499 OMIM:618378 OMIM:619025 OMIM:301032 OMIM:613672 ORPHA:324604 OMIM:618198 OMIM:616521 ORPHA:276432 OMIM:619091 OMIM:619092 OMIM:619157 OMIM:618460 OMIM:619373 OMIM:616116 OMIM:301020 OMIM:618244 OMIM:619272 OMIM:618374 OMIM:300912 OMIM:618356 OMIM:602535 ORPHA:404454 OMIM:619260 ORPHA:466791 OMIM:300967 OMIM:609583 OMIM:618242 OMIM:619844 OMIM:619075 OMIM:203740 OMIM:300486 OMIM:617452 OMIM:618493 OMIM:618067 ORPHA:95232 OMIM:618158 OMIM:300558 OMIM:618770 OMIM:615802 ORPHA:89936 ORPHA:264580 ORPHA:79240 OMIM:619708 OMIM:617146 OMIM:617816 ORPHA:488635 OMIM:614749 ORPHA:254361 OMIM:225400 ORPHA:1900 ORPHA:280219 ORPHA:1170 OMIM:613179 OMIM:610717 OMIM:616494 OMIM:618603 OMIM:619742 OMIM:619310 OMIM:616094 ORPHA:206559 OMIM:618354 OMIM:616362 ORPHA:457279 OMIM:616355 OMIM:620005 OMIM:617157 ORPHA:109 OMIM:618342 OMIM:617807 OMIM:619420 OMIM:212720 ORPHA:477817 OMIM:619311 OMIM:619690 OMIM:614814 OMIM:617916 ORPHA:512260 OMIM:607313 OMIM:618060 OMIM:300998 ORPHA:404499 OMIM:615705 OMIM:617773 OMIM:117000 OMIM:619542 ORPHA:178145 OMIM:619229 OMIM:618924 OMIM:619224 ORPHA:506353 OMIM:602771 OMIM:618876 OMIM:618106 ORPHA:404440 OMIM:615761 OMIM:619121 OMIM:607721 OMIM:618162 OMIM:619083 ORPHA:59 OMIM:618049 OMIM:618197 OMIM:612949 OMIM:618416 OMIM:619525 OMIM:616721 OMIM:617143 OMIM:613135 OMIM:301024 OMIM:619293 OMIM:618779 OMIM:301044 ORPHA:77293 OMIM:616330 ORPHA:397709 OMIM:616354 OMIM:617140 OMIM:618828 OMIM:618829 OMIM:617519 OMIM:136140 OMIM:301022 OMIM:612073 ORPHA:1933 OMIM:619480 OMIM:618484 OMIM:618218 OMIM:300966 ORPHA:480907 OMIM:619972 ORPHA:480864 OMIM:606053 OMIM:618430 OMIM:618798 OMIM:615658 OMIM:615582 ORPHA:505216 OMIM:617698 OMIM:609560 OMIM:617964 OMIM:620075 OMIM:619470 OMIM:618688 OMIM:619966 OMIM:618316 OMIM:617255 OMIM:239000 OMIM:605355 OMIM:608423 OMIM:619243 OMIM:620027 OMIM:617862 OMIM:613192 OMIM:615490 OMIM:619428 OMIM:618825 OMIM:617061 OMIM:617873 OMIM:618302 ORPHA:254864 OMIM:616084 OMIM:618454 OMIM:617026 OMIM:619244 OMIM:615541 ORPHA:300570 ORPHA:163956 OMIM:618792 OMIM:619135 OMIM:618606 OMIM:618707 OMIM:615817 ORPHA:513456 OMIM:617616 OMIM:618347 OMIM:619648 OMIM:615777 OMIM:619418 OMIM:619125 ORPHA:506358 OMIM:618383 OMIM:301041 ORPHA:261552 ORPHA:261537 OMIM:617260 OMIM:619557 OMIM:617865
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.