Human Phenotype Ontology 
Grandparent Node:
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Motor delay (HP:0001270)help
Parent Node:
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Delayed gross motor development (HP:0002194)help
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Delayed ability to sit (HP:0025336)help
Term ID: 25336
Name: Delayed ability to sit
Synonym:
Definition: A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.
Comments:
Reference: HP:0025336
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDelayed ability to stand (HP:0025335) 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:0025336HP:0025336Delayed ability to sit0ADCY5 CL E G H111236OMIM:606703Dyskinesia, familial, with facial myokymia25
HP:0025336HP:0025336Delayed ability to sit0ADCY5 CL E G H111236OMIM:619651NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD25
HP:0025336HP:0025336Delayed ability to sit0ADGRL1 CL E G H2285920973OMIM:620065
HP:0025336HP:0025336Delayed ability to sit0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome36
HP:0025336HP:0025336Delayed ability to sit0ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040283 - Occasional404
HP:0025336HP:0025336Delayed ability to sit0AP3B2 CL E G H8120567OMIM:617276EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE487
HP:0025336HP:0025336Delayed ability to sit0CASK CL E G H85731497OMIM:300749Mental retardation and microcephaly with pontine and cerebellar hypoplasia118
HP:0025336HP:0025336Delayed ability to sit0CDK13 CL E G H86211733OMIM:617360Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder8
HP:0025336HP:0025336Delayed ability to sit0CELF2 CL E G H106592550OMIM:619561DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0025336HP:0025336Delayed ability to sit0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0025336HP:0025336Delayed ability to sit0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel88
HP:0025336HP:0025336Delayed ability to sit0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0025336HP:0025336Delayed ability to sit0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome749
HP:0025336HP:0025336Delayed ability to sit0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defects88
HP:0025336HP:0025336Delayed ability to sit0CUL3 CL E G H84522553OMIM:619239NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS92
HP:0025336HP:0025336Delayed ability to sit0DAG1 CL E G H16052666ORPHA:370997Muscle-eye-brain disease with bilateral multicystic leucodystrophyHP:0040282 - Frequent108
HP:0025336HP:0025336Delayed ability to sit0DPYSL5 CL E G H5689620637OMIM:619435RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0025336HP:0025336Delayed ability to sit0EIF3F CL E G H86653275OMIM:618295Intellectual developmental disorder, autosomal recessive 67
HP:0025336HP:0025336Delayed ability to sit0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040282 - Frequent3
HP:0025336HP:0025336Delayed ability to sit0FOXG1 CL E G H22903811OMIM:613454Rett syndrome, congenital variant177
HP:0025336HP:0025336Delayed ability to sit0GAA CL E G H25484065ORPHA:308552Glycogen storage disease due to acid maltase deficiency, infantile onsetHP:0040281 - Very frequent407
HP:0025336HP:0025336Delayed ability to sit0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0025336HP:0025336Delayed ability to sit0GNAI1 CL E G H27704384OMIM:619854
HP:0025336HP:0025336Delayed ability to sit0GRIK2 CL E G H28984580OMIM:619580NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS32
HP:0025336HP:0025336Delayed ability to sit0GRIN1 CL E G H29024584OMIM:617820Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive108
HP:0025336HP:0025336Delayed ability to sit0GRIN2B CL E G H29044586OMIM:616139Epileptic encephalopathy, early infantile, 27274
HP:0025336HP:0025336Delayed ability to sit0H3-3A CL E G H30204764OMIM:619720BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0025336HP:0025336Delayed ability to sit0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0025336HP:0025336Delayed ability to sit0HK1 CL E G H30984922OMIM:618547NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA11
HP:0025336HP:0025336Delayed ability to sit0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1111
HP:0025336HP:0025336Delayed ability to sit0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0025336HP:0025336Delayed ability to sit0LARGE1 CL E G H92156511OMIM:608840MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6136
HP:0025336HP:0025336Delayed ability to sit0MACF1 CL E G H2349913664OMIM:618325Lissencephaly 9 with complex brainstem malformation2
HP:0025336HP:0025336Delayed ability to sit0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1252
HP:0025336HP:0025336Delayed ability to sit0MDH2 CL E G H41916971OMIM:617339Epileptic encephalopathy, early infantile, 514
HP:0025336HP:0025336Delayed ability to sit0MECP2 CL E G H42046990OMIM:300260Mental retardation, x-linked syndromic, Lubs type950
HP:0025336HP:0025336Delayed ability to sit0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0025336HP:0025336Delayed ability to sit0MEF2C CL E G H42086996OMIM:613443Mental retardation, autosomal dominant 20132
HP:0025336HP:0025336Delayed ability to sit0MKS1 CL E G H549037121OMIM:249000Meckel syndrome 1127
HP:0025336HP:0025336Delayed ability to sit0NARS1 CL E G H46777643OMIM:619091NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES; NEDMILG
HP:0025336HP:0025336Delayed ability to sit0NARS1 CL E G H46777643OMIM:619092NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES; NEDMILEG
HP:0025336HP:0025336Delayed ability to sit0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72
HP:0025336HP:0025336Delayed ability to sit0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0025336HP:0025336Delayed ability to sit0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040283 - Occasional32
HP:0025336HP:0025336Delayed ability to sit0OPHN1 CL E G H49838148OMIM:300486Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance55
HP:0025336HP:0025336Delayed ability to sit0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040282 - Frequent231
HP:0025336HP:0025336Delayed ability to sit0PCYT2 CL E G H58338756OMIM:618770SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE; SPG82
HP:0025336HP:0025336Delayed ability to sit0PGAP1 CL E G H8005525712OMIM:615802MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT4220
HP:0025336HP:0025336Delayed ability to sit0PLP1 CL E G H53549086ORPHA:280219Pelizaeus-Merzbacher disease, classic formHP:0040282 - Frequent60
HP:0025336HP:0025336Delayed ability to sit0POLR2A CL E G H54309187OMIM:618603NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0025336HP:0025336Delayed ability to sit0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0025336HP:0025336Delayed ability to sit0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0025336HP:0025336Delayed ability to sit0RBL2 CL E G H59349894OMIM:619690BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0025336HP:0025336Delayed ability to sit0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0025336HP:0025336Delayed ability to sit0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0025336HP:0025336Delayed ability to sit0SDHB CL E G H639010681OMIM:619224MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4237
HP:0025336HP:0025336Delayed ability to sit0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0025336HP:0025336Delayed ability to sit0SLC18A2 CL E G H657110935OMIM:618049Parkinsonism-Dystonia, infantile, 22
HP:0025336HP:0025336Delayed ability to sit0SLC39A8 CL E G H6411620862OMIM:616721Congenital disorder of glycosylation, type IIN11
HP:0025336HP:0025336Delayed ability to sit0SNX14 CL E G H5723114977OMIM:616354Spinocerebellar ataxia, autosomal recessive 2014
HP:0025336HP:0025336Delayed ability to sit0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0025336HP:0025336Delayed ability to sit0TAF8 CL E G H12968517300OMIM:619972
HP:0025336HP:0025336Delayed ability to sit0TRIM8 CL E G H8160315579OMIM:619428FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS1
HP:0025336HP:0025336Delayed ability to sit0TRIO CL E G H720412303OMIM:618825INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 63, WITH MACROCEPHALY; MRD638
HP:0025336HP:0025336Delayed ability to sit0TTC5 CL E G H9187519274OMIM:619244NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0025336HP:0025336Delayed ability to sit0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0025336HP:0025336Delayed ability to sit0UGDH CL E G H735812525OMIM:618792DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0025336HP:0025336Delayed ability to sit0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0025336HP:0025336Delayed ability to sit0VPS51 CL E G H7381172OMIM:618606PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0025336HP:0025336Delayed ability to sit0WASF1 CL E G H893612732OMIM:618707NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0025336HP:0025336Delayed ability to sit0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8


Genes (68) :ADCY5 ADGRL1 AHDC1 ALMS1 AP3B2 CASK CDK13 CELF2 CHRNB1 CHRND CLDN11 COL3A1 CTNNB1 CUL3 DAG1 DPYSL5 EIF3F EXTL3 FOXG1 GAA GALNT2 GNAI1 GRIK2 GRIN1 GRIN2B H3-3A HIVEP2 HK1 INPP5E KAT6A LARGE1 MACF1 MBD5 MDH2 MECP2 MEF2C MKS1 NARS1 NEUROD2 NEXMIF NGLY1 OPHN1 PAFAH1B1 PCYT2 PGAP1 PLP1 POLR2A POLR3K RAB3GAP2 RBL2 ROBO3 SATB1 SDHB SIK3 SLC18A2 SLC39A8 SNX14 SON TAF8 TRIM8 TRIO TTC5 TUBB3 UGDH VPS35L VPS51 WASF1 WDR26

Diseases (71) :OMIM:606703 OMIM:619651 OMIM:620065 OMIM:615829 ORPHA:64 OMIM:617276 OMIM:300749 OMIM:617360 OMIM:619561 OMIM:616313 OMIM:616321 OMIM:619328 OMIM:618343 OMIM:615075 OMIM:619239 ORPHA:370997 OMIM:619435 OMIM:618295 ORPHA:508533 OMIM:613454 ORPHA:308552 OMIM:618885 OMIM:619854 OMIM:619580 OMIM:617820 OMIM:616139 OMIM:619720 OMIM:616977 OMIM:618547 OMIM:213300 OMIM:616268 OMIM:608840 OMIM:618325 OMIM:156200 OMIM:617339 OMIM:300260 OMIM:300055 OMIM:613443 OMIM:249000 OMIM:619091 OMIM:619092 OMIM:618374 OMIM:300912 ORPHA:404454 OMIM:300486 ORPHA:95232 OMIM:618770 OMIM:615802 ORPHA:280219 OMIM:618603 OMIM:619310 OMIM:212720 OMIM:619690 OMIM:607313 OMIM:619229 OMIM:619224 OMIM:618162 OMIM:618049 OMIM:616721 OMIM:616354 OMIM:617140 OMIM:619972 OMIM:619428 OMIM:618825 OMIM:619244 ORPHA:300570 OMIM:618792 OMIM:619135 OMIM:618606 OMIM:618707 ORPHA:513456
 

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