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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002194HP:0002194Delayed gross motor development0AMPD2 CL E G H271401805ORPHA1276469102771
HP:0002194HP:0002194Delayed gross motor development0BIN1 CL E G H274169189ORPHA15521052601248
HP:0002194HP:0002194Delayed gross motor development0CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0002194HP:0002194Delayed gross motor development0CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0002194HP:0002194Delayed gross motor development0CLP1 CL E G H10978411493ORPHA16116999608757
HP:0002194HP:0002194Delayed gross motor development0CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002194HP:0002194Delayed gross motor development0COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA112402187120290
HP:0002194HP:0002194Delayed gross motor development0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002194HP:0002194Delayed gross motor development0COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002194HP:0002194Delayed gross motor development0COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA118202200120140
HP:0002194HP:0002194Delayed gross motor development0DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0002194HP:0002194Delayed gross motor development0DNAJC19 CL E G H13111866634ORPHA111130528608977
HP:0002194HP:0002194Delayed gross motor development0DNM2 CL E G H1785169189ORPHA18852974602378
HP:0002194HP:0002194Delayed gross motor development0DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0002194HP:0002194Delayed gross motor development0EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0002194HP:0002194Delayed gross motor development0ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002194HP:0002194Delayed gross motor development0FGF3 CL E G H2248610706Deafness with labyrinthine aplasia microtia and microdontia (LAMM)610706C1853144OMIM1803681164950
HP:0002194HP:0002194Delayed gross motor development0FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002194HP:0002194Delayed gross motor development0FLRT1 CL E G H23769320406ORPHA11313760604806
HP:0002194HP:0002194Delayed gross motor development0FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002194HP:0002194Delayed gross motor development0FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM122613254300499
HP:0002194HP:0002194Delayed gross motor development0GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0002194HP:0002194Delayed gross motor development0HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM14816142810
HP:0002194HP:0002194Delayed gross motor development0HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11285099142955
HP:0002194HP:0002194Delayed gross motor development0ITPR1 CL E G H3708208513ORPHA111346180147265
HP:0002194HP:0002194Delayed gross motor development0KIDINS220 CL E G H57498521390ORPHA131129508615759
HP:0002194HP:0002194Delayed gross motor development0KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM117619181611279
HP:0002194HP:0002194Delayed gross motor development0KLC2 CL E G H64837320406ORPHA16120716611729
HP:0002194HP:0002194Delayed gross motor development0KMT2A CL E G H4297319182ORPHA113177132159555
HP:0002194HP:0002194Delayed gross motor development0KY CL E G H339855496689ORPHA18726576605739
HP:0002194HP:0002194Delayed gross motor development0MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002194HP:0002194Delayed gross motor development0MTMR14 CL E G H64419169189ORPHA115626190611089
HP:0002194HP:0002194Delayed gross motor development0MYF6 CL E G H4618169189ORPHA1787566159991
HP:0002194HP:0002194Delayed gross motor development0MYH7 CL E G H4625324604ORPHA136127577160760
HP:0002194HP:0002194Delayed gross motor development0NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM16537905607100
HP:0002194HP:0002194Delayed gross motor development0PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12928592300142
HP:0002194HP:0002194Delayed gross motor development0PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM12279302605983
HP:0002194HP:0002194Delayed gross motor development0RNU12 CL E G H267010512260ORPHA111193800
HP:0002194HP:0002194Delayed gross motor development0RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002194HP:0002194Delayed gross motor development0RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0002194HP:0002194Delayed gross motor development0RYR1 CL E G H6261169189ORPHA1506210483180901
HP:0002194HP:0002194Delayed gross motor development0SELENON CL E G H57190324604ORPHA153715999606210
HP:0002194HP:0002194Delayed gross motor development0SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0002194HP:0002194Delayed gross motor development0SMC1A CL E G H8243319182ORPHA179811111300040
HP:0002194HP:0002194Delayed gross motor development0SUCLA2 CL E G H88031933ORPHA130911448603921
HP:0002194HP:0002194Delayed gross motor development0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0002194HP:0002194Delayed gross motor development0TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM135611831188250
HP:0002194HP:0002194Delayed gross motor development0TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM129811948191041
HP:0002194HP:0002194Delayed gross motor development0TTN CL E G H7273324604ORPHA12285912403188840
HP:0002194HP:0025335Delayed ability to stand1AMPD2 CL E G H271401805ORPHA1276469102771
HP:0002194HP:0025336Delayed ability to sit1AMPD2 CL E G H271401805ORPHA1276469102771
HP:0002194HP:0032989Delayed ability to roll over1AMPD2 CL E G H271401805ORPHA1276469102771
HP:0002194HP:0033257Delayed ability to walk with support1AMPD2 CL E G H271401805ORPHA1276469102771
HP:0002194HP:0033128Delayed ability to crawl1AMPD2 CL E G H271401805ORPHA1276469102771
HP:0002194HP:0031936Delayed ability to walk1AMPD2 CL E G H271401805ORPHA1276469102771
HP:0002194HP:0032989Delayed ability to roll over1BIN1 CL E G H274169189ORPHA15521052601248
HP:0002194HP:0033257Delayed ability to walk with support1BIN1 CL E G H274169189ORPHA15521052601248
HP:0002194HP:0033128Delayed ability to crawl1BIN1 CL E G H274169189ORPHA15521052601248
HP:0002194HP:0031936Delayed ability to walk1BIN1 CL E G H274169189ORPHA15521052601248
HP:0002194HP:0025335Delayed ability to stand1BIN1 CL E G H274169189ORPHA15521052601248
HP:0002194HP:0025336Delayed ability to sit1BIN1 CL E G H274169189ORPHA15521052601248
HP:0002194HP:0025335Delayed ability to stand1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0002194HP:0025336Delayed ability to sit1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0002194HP:0032989Delayed ability to roll over1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0002194HP:0033257Delayed ability to walk with support1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0002194HP:0033128Delayed ability to crawl1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0002194HP:0031936Delayed ability to walk1CFL2 CL E G H1073610687Nemaline myopathy 7610687C1853154OMIM11471875601443
HP:0002194HP:0025335Delayed ability to stand1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0002194HP:0025336Delayed ability to sit1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0002194HP:0032989Delayed ability to roll over1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0002194HP:0033257Delayed ability to walk with support1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0002194HP:0033128Delayed ability to crawl1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0002194HP:0031936Delayed ability to walk1CHST3 CL E G H9469143095Spondyloepiphyseal dysplasia with congenital joint dislocations143095C1840471OMIM13521971603799
HP:0002194HP:0032989Delayed ability to roll over1CLP1 CL E G H10978411493ORPHA16116999608757
HP:0002194HP:0033257Delayed ability to walk with support1CLP1 CL E G H10978411493ORPHA16116999608757
HP:0002194HP:0033128Delayed ability to crawl1CLP1 CL E G H10978411493ORPHA16116999608757
HP:0002194HP:0031936Delayed ability to walk1CLP1 CL E G H10978411493ORPHA16116999608757
HP:0002194HP:0025335Delayed ability to stand1CLP1 CL E G H10978411493ORPHA16116999608757
HP:0002194HP:0025336Delayed ability to sit1CLP1 CL E G H10978411493ORPHA16116999608757
HP:0002194HP:0025336Delayed ability to sit1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002194HP:0032989Delayed ability to roll over1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002194HP:0033257Delayed ability to walk with support1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002194HP:0033128Delayed ability to crawl1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002194HP:0031936Delayed ability to walk1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002194HP:0025335Delayed ability to stand1CNTNAP2 CL E G H26047610042Pitt-Hopkins-like syndrome 1610042C2750246OMIM1163413830604569
HP:0002194HP:0033128Delayed ability to crawl1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA112402187120290
HP:0002194HP:0031936Delayed ability to walk1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA112402187120290
HP:0002194HP:0025335Delayed ability to stand1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA112402187120290
HP:0002194HP:0025336Delayed ability to sit1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA112402187120290
HP:0002194HP:0032989Delayed ability to roll over1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA112402187120290
HP:0002194HP:0033257Delayed ability to walk with support1COL11A2 CL E G H13023450Mehta Lewis Patton syndromeORPHA112402187120290
HP:0002194HP:0025336Delayed ability to sit1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002194HP:0033257Delayed ability to walk with support1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002194HP:0032989Delayed ability to roll over1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002194HP:0031936Delayed ability to walk1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002194HP:0033128Delayed ability to crawl1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002194HP:0025335Delayed ability to stand1COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM120162197120150
HP:0002194HP:0025335Delayed ability to stand1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002194HP:0025336Delayed ability to sit1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002194HP:0032989Delayed ability to roll over1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002194HP:0033257Delayed ability to walk with support1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002194HP:0033128Delayed ability to crawl1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002194HP:0031936Delayed ability to walk1COL1A2 CL E G H1278617821EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 2617821CN706304OMIM114582198120160
HP:0002194HP:0032989Delayed ability to roll over1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA118202200120140
HP:0002194HP:0033257Delayed ability to walk with support1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA118202200120140
HP:0002194HP:0033128Delayed ability to crawl1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA118202200120140
HP:0002194HP:0031936Delayed ability to walk1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA118202200120140
HP:0002194HP:0025335Delayed ability to stand1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA118202200120140
HP:0002194HP:0025336Delayed ability to sit1COL2A1 CL E G H12803450Mehta Lewis Patton syndromeORPHA118202200120140
HP:0002194HP:0032989Delayed ability to roll over1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0002194HP:0033257Delayed ability to walk with support1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0002194HP:0031936Delayed ability to walk1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0002194HP:0033128Delayed ability to crawl1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0002194HP:0025335Delayed ability to stand1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0002194HP:0025336Delayed ability to sit1DLAT CL E G H1737245348Pyruvate dehydrogenase E2 deficiency245348C1855565OMIM12372896608770
HP:0002194HP:0025336Delayed ability to sit1DNAJC19 CL E G H13111866634ORPHA111130528608977
HP:0002194HP:0033257Delayed ability to walk with support1DNAJC19 CL E G H13111866634ORPHA111130528608977
HP:0002194HP:0032989Delayed ability to roll over1DNAJC19 CL E G H13111866634ORPHA111130528608977
HP:0002194HP:0031936Delayed ability to walk1DNAJC19 CL E G H13111866634ORPHA111130528608977
HP:0002194HP:0033128Delayed ability to crawl1DNAJC19 CL E G H13111866634ORPHA111130528608977
HP:0002194HP:0025335Delayed ability to stand1DNAJC19 CL E G H13111866634ORPHA111130528608977
HP:0002194HP:0025336Delayed ability to sit1DNM2 CL E G H1785169189ORPHA18852974602378
HP:0002194HP:0033257Delayed ability to walk with support1DNM2 CL E G H1785169189ORPHA18852974602378
HP:0002194HP:0032989Delayed ability to roll over1DNM2 CL E G H1785169189ORPHA18852974602378
HP:0002194HP:0031936Delayed ability to walk1DNM2 CL E G H1785169189ORPHA18852974602378
HP:0002194HP:0033128Delayed ability to crawl1DNM2 CL E G H1785169189ORPHA18852974602378
HP:0002194HP:0025335Delayed ability to stand1DNM2 CL E G H1785169189ORPHA18852974602378
HP:0002194HP:0033128Delayed ability to crawl1DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0002194HP:0031936Delayed ability to walk1DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0002194HP:0025335Delayed ability to stand1DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0002194HP:0025336Delayed ability to sit1DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0002194HP:0032989Delayed ability to roll over1DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0002194HP:0033257Delayed ability to walk with support1DSE CL E G H29940615539Ehlers-Danlos syndrome, musculocontractural type 2615539C3809845OMIM125521144605942
HP:0002194HP:0033128Delayed ability to crawl1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0002194HP:0031936Delayed ability to walk1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0002194HP:0025335Delayed ability to stand1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0002194HP:0025336Delayed ability to sit1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0002194HP:0032989Delayed ability to roll over1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0002194HP:0033257Delayed ability to walk with support1EP300 CL E G H2033613684Rubinstein-Taybi syndrome 2613684C3150941OMIM18353373602700
HP:0002194HP:0033128Delayed ability to crawl1ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002194HP:0031936Delayed ability to walk1ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002194HP:0025335Delayed ability to stand1ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002194HP:0025336Delayed ability to sit1ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002194HP:0032989Delayed ability to roll over1ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002194HP:0033257Delayed ability to walk with support1ERLIN2 CL E G H11160209951ORPHA11591356611605
HP:0002194HP:0033128Delayed ability to crawl1FGF3 CL E G H2248610706Deafness with labyrinthine aplasia microtia and microdontia (LAMM)610706C1853144OMIM1803681164950
HP:0002194HP:0031936Delayed ability to walk1FGF3 CL E G H2248610706Deafness with labyrinthine aplasia microtia and microdontia (LAMM)610706C1853144OMIM1803681164950
HP:0002194HP:0025335Delayed ability to stand1FGF3 CL E G H2248610706Deafness with labyrinthine aplasia microtia and microdontia (LAMM)610706C1853144OMIM1803681164950
HP:0002194HP:0025336Delayed ability to sit1FGF3 CL E G H2248610706Deafness with labyrinthine aplasia microtia and microdontia (LAMM)610706C1853144OMIM1803681164950
HP:0002194HP:0032989Delayed ability to roll over1FGF3 CL E G H2248610706Deafness with labyrinthine aplasia microtia and microdontia (LAMM)610706C1853144OMIM1803681164950
HP:0002194HP:0033257Delayed ability to walk with support1FGF3 CL E G H2248610706Deafness with labyrinthine aplasia microtia and microdontia (LAMM)610706C1853144OMIM1803681164950
HP:0002194HP:0025335Delayed ability to stand1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002194HP:0025336Delayed ability to sit1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002194HP:0032989Delayed ability to roll over1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002194HP:0033257Delayed ability to walk with support1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002194HP:0033128Delayed ability to crawl1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002194HP:0031936Delayed ability to walk1FKRP CL E G H79147606612Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5606612C1847759OMIM178717997606596
HP:0002194HP:0033128Delayed ability to crawl1FLRT1 CL E G H23769320406ORPHA11313760604806
HP:0002194HP:0031936Delayed ability to walk1FLRT1 CL E G H23769320406ORPHA11313760604806
HP:0002194HP:0025335Delayed ability to stand1FLRT1 CL E G H23769320406ORPHA11313760604806
HP:0002194HP:0025336Delayed ability to sit1FLRT1 CL E G H23769320406ORPHA11313760604806
HP:0002194HP:0032989Delayed ability to roll over1FLRT1 CL E G H23769320406ORPHA11313760604806
HP:0002194HP:0033257Delayed ability to walk with support1FLRT1 CL E G H23769320406ORPHA11313760604806
HP:0002194HP:0025335Delayed ability to stand1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002194HP:0025336Delayed ability to sit1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002194HP:0032989Delayed ability to roll over1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002194HP:0033257Delayed ability to walk with support1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002194HP:0033128Delayed ability to crawl1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002194HP:0031936Delayed ability to walk1FOXP1 CL E G H27086613670Mental retardation with language impairment and with or without autistic features613670C3150923OMIM14493823605515
HP:0002194HP:0033128Delayed ability to crawl1FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM122613254300499
HP:0002194HP:0031936Delayed ability to walk1FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM122613254300499
HP:0002194HP:0025335Delayed ability to stand1FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM122613254300499
HP:0002194HP:0025336Delayed ability to sit1FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM122613254300499
HP:0002194HP:0032989Delayed ability to roll over1FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM122613254300499
HP:0002194HP:0033257Delayed ability to walk with support1FTSJ1 CL E G H24140309549Mental retardation 9, X-linked309549C0796215OMIM122613254300499
HP:0002194HP:0033128Delayed ability to crawl1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0002194HP:0031936Delayed ability to walk1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0002194HP:0025335Delayed ability to stand1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0002194HP:0025336Delayed ability to sit1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0002194HP:0032989Delayed ability to roll over1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0002194HP:0033257Delayed ability to walk with support1GALE CL E G H2582230350UDPglucose-4-epimerase deficiency230350C0751161OMIM11534116606953
HP:0002194HP:0032989Delayed ability to roll over1HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM14816142810
HP:0002194HP:0033257Delayed ability to walk with support1HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM14816142810
HP:0002194HP:0031936Delayed ability to walk1HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM14816142810
HP:0002194HP:0033128Delayed ability to crawl1HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM14816142810
HP:0002194HP:0025335Delayed ability to stand1HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM14816142810
HP:0002194HP:0025336Delayed ability to sit1HARS CL E G H3035614504Usher syndrome, type 3B614504C3281066OMIM14816142810
HP:0002194HP:0032989Delayed ability to roll over1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11285099142955
HP:0002194HP:0033257Delayed ability to walk with support1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11285099142955
HP:0002194HP:0033128Delayed ability to crawl1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11285099142955
HP:0002194HP:0031936Delayed ability to walk1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11285099142955
HP:0002194HP:0025335Delayed ability to stand1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11285099142955
HP:0002194HP:0025336Delayed ability to sit1HOXA1 CL E G H3198601536Athabaskan brainstem dysgenesis601536C1832215OMIM11285099142955
HP:0002194HP:0025335Delayed ability to stand1ITPR1 CL E G H3708208513ORPHA111346180147265
HP:0002194HP:0025336Delayed ability to sit1ITPR1 CL E G H3708208513ORPHA111346180147265
HP:0002194HP:0033257Delayed ability to walk with support1ITPR1 CL E G H3708208513ORPHA111346180147265
HP:0002194HP:0032989Delayed ability to roll over1ITPR1 CL E G H3708208513ORPHA111346180147265
HP:0002194HP:0033128Delayed ability to crawl1ITPR1 CL E G H3708208513ORPHA111346180147265
HP:0002194HP:0031936Delayed ability to walk1ITPR1 CL E G H3708208513ORPHA111346180147265
HP:0002194HP:0033128Delayed ability to crawl1KIDINS220 CL E G H57498521390ORPHA131129508615759
HP:0002194HP:0031936Delayed ability to walk1KIDINS220 CL E G H57498521390ORPHA131129508615759
HP:0002194HP:0025335Delayed ability to stand1KIDINS220 CL E G H57498521390ORPHA131129508615759
HP:0002194HP:0025336Delayed ability to sit1KIDINS220 CL E G H57498521390ORPHA131129508615759
HP:0002194HP:0032989Delayed ability to roll over1KIDINS220 CL E G H57498521390ORPHA131129508615759
HP:0002194HP:0033257Delayed ability to walk with support1KIDINS220 CL E G H57498521390ORPHA131129508615759
HP:0002194HP:0033128Delayed ability to crawl1KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM117619181611279
HP:0002194HP:0031936Delayed ability to walk1KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM117619181611279
HP:0002194HP:0025335Delayed ability to stand1KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM117619181611279
HP:0002194HP:0025336Delayed ability to sit1KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM117619181611279
HP:0002194HP:0032989Delayed ability to roll over1KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM117619181611279
HP:0002194HP:0033257Delayed ability to walk with support1KIF14 CL E G H9928617914MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE617914CN895593OMIM117619181611279
HP:0002194HP:0032989Delayed ability to roll over1KLC2 CL E G H64837320406ORPHA16120716611729
HP:0002194HP:0033257Delayed ability to walk with support1KLC2 CL E G H64837320406ORPHA16120716611729
HP:0002194HP:0033128Delayed ability to crawl1KLC2 CL E G H64837320406ORPHA16120716611729
HP:0002194HP:0031936Delayed ability to walk1KLC2 CL E G H64837320406ORPHA16120716611729
HP:0002194HP:0025335Delayed ability to stand1KLC2 CL E G H64837320406ORPHA16120716611729
HP:0002194HP:0025336Delayed ability to sit1KLC2 CL E G H64837320406ORPHA16120716611729
HP:0002194HP:0032989Delayed ability to roll over1KMT2A CL E G H4297319182ORPHA113177132159555
HP:0002194HP:0033257Delayed ability to walk with support1KMT2A CL E G H4297319182ORPHA113177132159555
HP:0002194HP:0033128Delayed ability to crawl1KMT2A CL E G H4297319182ORPHA113177132159555
HP:0002194HP:0031936Delayed ability to walk1KMT2A CL E G H4297319182ORPHA113177132159555
HP:0002194HP:0025335Delayed ability to stand1KMT2A CL E G H4297319182ORPHA113177132159555
HP:0002194HP:0025336Delayed ability to sit1KMT2A CL E G H4297319182ORPHA113177132159555
HP:0002194HP:0025336Delayed ability to sit1KY CL E G H339855496689ORPHA18726576605739
HP:0002194HP:0032989Delayed ability to roll over1KY CL E G H339855496689ORPHA18726576605739
HP:0002194HP:0033257Delayed ability to walk with support1KY CL E G H339855496689ORPHA18726576605739
HP:0002194HP:0033128Delayed ability to crawl1KY CL E G H339855496689ORPHA18726576605739
HP:0002194HP:0031936Delayed ability to walk1KY CL E G H339855496689ORPHA18726576605739
HP:0002194HP:0025335Delayed ability to stand1KY CL E G H339855496689ORPHA18726576605739
HP:0002194HP:0025336Delayed ability to sit1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002194HP:0033257Delayed ability to walk with support1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002194HP:0032989Delayed ability to roll over1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002194HP:0031936Delayed ability to walk1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002194HP:0033128Delayed ability to crawl1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002194HP:0025335Delayed ability to stand1MFN2 CL E G H9927617087Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B617087C4310725OMIM1106316877608507
HP:0002194HP:0025335Delayed ability to stand1MTMR14 CL E G H64419169189ORPHA115626190611089
HP:0002194HP:0025336Delayed ability to sit1MTMR14 CL E G H64419169189ORPHA115626190611089
HP:0002194HP:0032989Delayed ability to roll over1MTMR14 CL E G H64419169189ORPHA115626190611089
HP:0002194HP:0033257Delayed ability to walk with support1MTMR14 CL E G H64419169189ORPHA115626190611089
HP:0002194HP:0033128Delayed ability to crawl1MTMR14 CL E G H64419169189ORPHA115626190611089
HP:0002194HP:0031936Delayed ability to walk1MTMR14 CL E G H64419169189ORPHA115626190611089
HP:0002194HP:0033128Delayed ability to crawl1MYF6 CL E G H4618169189ORPHA1787566159991
HP:0002194HP:0031936Delayed ability to walk1MYF6 CL E G H4618169189ORPHA1787566159991
HP:0002194HP:0025335Delayed ability to stand1MYF6 CL E G H4618169189ORPHA1787566159991
HP:0002194HP:0025336Delayed ability to sit1MYF6 CL E G H4618169189ORPHA1787566159991
HP:0002194HP:0032989Delayed ability to roll over1MYF6 CL E G H4618169189ORPHA1787566159991
HP:0002194HP:0033257Delayed ability to walk with support1MYF6 CL E G H4618169189ORPHA1787566159991
HP:0002194HP:0025335Delayed ability to stand1MYH7 CL E G H4625324604ORPHA136127577160760
HP:0002194HP:0025336Delayed ability to sit1MYH7 CL E G H4625324604ORPHA136127577160760
HP:0002194HP:0032989Delayed ability to roll over1MYH7 CL E G H4625324604ORPHA136127577160760
HP:0002194HP:0033257Delayed ability to walk with support1MYH7 CL E G H4625324604ORPHA136127577160760
HP:0002194HP:0033128Delayed ability to crawl1MYH7 CL E G H4625324604ORPHA136127577160760
HP:0002194HP:0031936Delayed ability to walk1MYH7 CL E G H4625324604ORPHA136127577160760
HP:0002194HP:0032989Delayed ability to roll over1NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM16537905607100
HP:0002194HP:0033257Delayed ability to walk with support1NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM16537905607100
HP:0002194HP:0031936Delayed ability to walk1NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM16537905607100
HP:0002194HP:0033128Delayed ability to crawl1NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM16537905607100
HP:0002194HP:0025335Delayed ability to stand1NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM16537905607100
HP:0002194HP:0025336Delayed ability to sit1NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM16537905607100
HP:0002194HP:0025336Delayed ability to sit1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12928592300142
HP:0002194HP:0032989Delayed ability to roll over1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12928592300142
HP:0002194HP:0033257Delayed ability to walk with support1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12928592300142
HP:0002194HP:0033128Delayed ability to crawl1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12928592300142
HP:0002194HP:0031936Delayed ability to walk1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12928592300142
HP:0002194HP:0025335Delayed ability to stand1PAK3 CL E G H5063300558Mental retardation 30, X-linked300558C0796237OMIM12928592300142
HP:0002194HP:0032989Delayed ability to roll over1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM12279302605983
HP:0002194HP:0033257Delayed ability to walk with support1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM12279302605983
HP:0002194HP:0033128Delayed ability to crawl1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM12279302605983
HP:0002194HP:0031936Delayed ability to walk1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM12279302605983
HP:0002194HP:0025335Delayed ability to stand1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM12279302605983
HP:0002194HP:0025336Delayed ability to sit1PPP2R1A CL E G H5518616362Mental retardation, autosomal dominant 36616362C4225352OMIM12279302605983
HP:0002194HP:0025335Delayed ability to stand1RNU12 CL E G H267010512260ORPHA111193800
HP:0002194HP:0025336Delayed ability to sit1RNU12 CL E G H267010512260ORPHA111193800
HP:0002194HP:0033257Delayed ability to walk with support1RNU12 CL E G H267010512260ORPHA111193800
HP:0002194HP:0032989Delayed ability to roll over1RNU12 CL E G H267010512260ORPHA111193800
HP:0002194HP:0031936Delayed ability to walk1RNU12 CL E G H267010512260ORPHA111193800
HP:0002194HP:0033128Delayed ability to crawl1RNU12 CL E G H267010512260ORPHA111193800
HP:0002194HP:0031936Delayed ability to walk1RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002194HP:0033128Delayed ability to crawl1RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002194HP:0025335Delayed ability to stand1RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002194HP:0025336Delayed ability to sit1RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002194HP:0033257Delayed ability to walk with support1RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002194HP:0032989Delayed ability to roll over1RUBCN CL E G H9711404499ORPHA111828991613516
HP:0002194HP:0032989Delayed ability to roll over1RYR1 CL E G H6261169189ORPHA1506210483180901
HP:0002194HP:0033257Delayed ability to walk with support1RYR1 CL E G H6261169189ORPHA1506210483180901
HP:0002194HP:0025336Delayed ability to sit1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0002194HP:0033128Delayed ability to crawl1RYR1 CL E G H6261169189ORPHA1506210483180901
HP:0002194HP:0031936Delayed ability to walk1RYR1 CL E G H6261169189ORPHA1506210483180901
HP:0002194HP:0032989Delayed ability to roll over1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0002194HP:0033257Delayed ability to walk with support1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0002194HP:0025335Delayed ability to stand1RYR1 CL E G H6261169189ORPHA1506210483180901
HP:0002194HP:0033128Delayed ability to crawl1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0002194HP:0031936Delayed ability to walk1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0002194HP:0025336Delayed ability to sit1RYR1 CL E G H6261169189ORPHA1506210483180901
HP:0002194HP:0025335Delayed ability to stand1RYR1 CL E G H6261178145ORPHA1506210483180901
HP:0002194HP:0033128Delayed ability to crawl1SELENON CL E G H57190324604ORPHA153715999606210
HP:0002194HP:0031936Delayed ability to walk1SELENON CL E G H57190324604ORPHA153715999606210
HP:0002194HP:0025335Delayed ability to stand1SELENON CL E G H57190324604ORPHA153715999606210
HP:0002194HP:0025336Delayed ability to sit1SELENON CL E G H57190324604ORPHA153715999606210
HP:0002194HP:0032989Delayed ability to roll over1SELENON CL E G H57190324604ORPHA153715999606210
HP:0002194HP:0033257Delayed ability to walk with support1SELENON CL E G H57190324604ORPHA153715999606210
HP:0002194HP:0025336Delayed ability to sit1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0002194HP:0033257Delayed ability to walk with support1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0002194HP:0032989Delayed ability to roll over1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0002194HP:0031936Delayed ability to walk1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0002194HP:0033128Delayed ability to crawl1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0002194HP:0025335Delayed ability to stand1SLC6A3 CL E G H6531613135Infantile Parkinsonism-dystonia613135C2751067OMIM147911049126455
HP:0002194HP:0025336Delayed ability to sit1SMC1A CL E G H8243319182ORPHA179811111300040
HP:0002194HP:0032989Delayed ability to roll over1SMC1A CL E G H8243319182ORPHA179811111300040
HP:0002194HP:0033257Delayed ability to walk with support1SMC1A CL E G H8243319182ORPHA179811111300040
HP:0002194HP:0033128Delayed ability to crawl1SMC1A CL E G H8243319182ORPHA179811111300040
HP:0002194HP:0031936Delayed ability to walk1SMC1A CL E G H8243319182ORPHA179811111300040
HP:0002194HP:0025335Delayed ability to stand1SMC1A CL E G H8243319182ORPHA179811111300040
HP:0002194HP:0025336Delayed ability to sit1SUCLA2 CL E G H88031933ORPHA130911448603921
HP:0002194HP:0032989Delayed ability to roll over1SUCLA2 CL E G H88031933ORPHA130911448603921
HP:0002194HP:0033257Delayed ability to walk with support1SUCLA2 CL E G H88031933ORPHA130911448603921
HP:0002194HP:0033128Delayed ability to crawl1SUCLA2 CL E G H88031933ORPHA130911448603921
HP:0002194HP:0031936Delayed ability to walk1SUCLA2 CL E G H88031933ORPHA130911448603921
HP:0002194HP:0025335Delayed ability to stand1SUCLA2 CL E G H88031933ORPHA130911448603921
HP:0002194HP:0032989Delayed ability to roll over1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0002194HP:0033257Delayed ability to walk with support1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0002194HP:0033128Delayed ability to crawl1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0002194HP:0031936Delayed ability to walk1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0002194HP:0025335Delayed ability to stand1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0002194HP:0025336Delayed ability to sit1SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM130911448603921
HP:0002194HP:0033128Delayed ability to crawl1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM135611831188250
HP:0002194HP:0031936Delayed ability to walk1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM135611831188250
HP:0002194HP:0025335Delayed ability to stand1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM135611831188250
HP:0002194HP:0025336Delayed ability to sit1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM135611831188250
HP:0002194HP:0032989Delayed ability to roll over1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM135611831188250
HP:0002194HP:0033257Delayed ability to walk with support1TK2 CL E G H7084609560Mitochondrial DNA depletion syndrome 2609560C3149750OMIM135611831188250
HP:0002194HP:0025336Delayed ability to sit1TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM129811948191041
HP:0002194HP:0033257Delayed ability to walk with support1TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM129811948191041
HP:0002194HP:0032989Delayed ability to roll over1TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM129811948191041
HP:0002194HP:0031936Delayed ability to walk1TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM129811948191041
HP:0002194HP:0033128Delayed ability to crawl1TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM129811948191041
HP:0002194HP:0025335Delayed ability to stand1TNNT1 CL E G H7138605355Nemaline myopathy 5605355C1854380OMIM129811948191041
HP:0002194HP:0032989Delayed ability to roll over1TTN CL E G H7273324604ORPHA12285912403188840
HP:0002194HP:0033257Delayed ability to walk with support1TTN CL E G H7273324604ORPHA12285912403188840
HP:0002194HP:0033128Delayed ability to crawl1TTN CL E G H7273324604ORPHA12285912403188840
HP:0002194HP:0031936Delayed ability to walk1TTN CL E G H7273324604ORPHA12285912403188840
HP:0002194HP:0025335Delayed ability to stand1TTN CL E G H7273324604ORPHA12285912403188840
HP:0002194HP:0025336Delayed ability to sit1TTN CL E G H7273324604ORPHA12285912403188840
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002194HP:0002194Delayed gross motor development0ADCY5 CL E G H111324588ORPHA0480236600293
HP:0002194HP:0002194Delayed gross motor development0AGRN CL E G H37579098913ORPHA01782329103320
HP:0002194HP:0002194Delayed gross motor development0AK9 CL E G H22126498913ORPHA04833814615358
HP:0002194HP:0002194Delayed gross motor development0BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM04231067112264
HP:0002194HP:0002194Delayed gross motor development0CHRNA1 CL E G H113498913ORPHA03981955100690
HP:0002194HP:0002194Delayed gross motor development0CHRNB1 CL E G H114098913ORPHA03571961100710
HP:0002194HP:0002194Delayed gross motor development0CHRND CL E G H114498913ORPHA04081965100720
HP:0002194HP:0002194Delayed gross motor development0CHRNE CL E G H114598913ORPHA07951966100725
HP:0002194HP:0002194Delayed gross motor development0COL13A1 CL E G H130598913ORPHA03972190120350
HP:0002194HP:0002194Delayed gross motor development0DOK7 CL E G H28548998913ORPHA084026594610285
HP:0002194HP:0002194Delayed gross motor development0FLVCR1 CL E G H2898288628ORPHA044824682609144
HP:0002194HP:0002194Delayed gross motor development0GJC2 CL E G H57165320401ORPHA025017494608803
HP:0002194HP:0002194Delayed gross motor development0HUWE1 CL E G H1007585328ORPHA091930892300697
HP:0002194HP:0002194Delayed gross motor development0LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0002194HP:0002194Delayed gross motor development0LRP4 CL E G H403898913ORPHA07906696604270
HP:0002194HP:0002194Delayed gross motor development0LRP5 CL E G H40412788ORPHA013546697603506
HP:0002194HP:0002194Delayed gross motor development0MT-TE CL E G H4556254864ORPHA07479590025
HP:0002194HP:0002194Delayed gross motor development0MUSK CL E G H459398913ORPHA04967525601296
HP:0002194HP:0002194Delayed gross motor development0NAA10 CL E G H8260276432ORPHA036118704300013
HP:0002194HP:0002194Delayed gross motor development0PLEC CL E G H5339254361ORPHA041529069601282
HP:0002194HP:0002194Delayed gross motor development0PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA027509588601728
HP:0002194HP:0002194Delayed gross motor development0RAPSN CL E G H591398913ORPHA04339863601592
HP:0002194HP:0002194Delayed gross motor development0SCN4A CL E G H632998913ORPHA0139110591603967
HP:0002194HP:0002194Delayed gross motor development0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0002194HP:0002194Delayed gross motor development0TRMU CL E G H55687254864ORPHA051825481610230
HP:0002194HP:0025336Delayed ability to sit1ADCY5 CL E G H111324588ORPHA0480236600293
HP:0002194HP:0033257Delayed ability to walk with support1ADCY5 CL E G H111324588ORPHA0480236600293
HP:0002194HP:0032989Delayed ability to roll over1ADCY5 CL E G H111324588ORPHA0480236600293
HP:0002194HP:0031936Delayed ability to walk1ADCY5 CL E G H111324588ORPHA0480236600293
HP:0002194HP:0033128Delayed ability to crawl1ADCY5 CL E G H111324588ORPHA0480236600293
HP:0002194HP:0025335Delayed ability to stand1ADCY5 CL E G H111324588ORPHA0480236600293
HP:0002194HP:0032989Delayed ability to roll over1AGRN CL E G H37579098913ORPHA01782329103320
HP:0002194HP:0033257Delayed ability to walk with support1AGRN CL E G H37579098913ORPHA01782329103320
HP:0002194HP:0031936Delayed ability to walk1AGRN CL E G H37579098913ORPHA01782329103320
HP:0002194HP:0033128Delayed ability to crawl1AGRN CL E G H37579098913ORPHA01782329103320
HP:0002194HP:0025335Delayed ability to stand1AGRN CL E G H37579098913ORPHA01782329103320
HP:0002194HP:0025336Delayed ability to sit1AGRN CL E G H37579098913ORPHA01782329103320
HP:0002194HP:0025336Delayed ability to sit1AK9 CL E G H22126498913ORPHA04833814615358
HP:0002194HP:0032989Delayed ability to roll over1AK9 CL E G H22126498913ORPHA04833814615358
HP:0002194HP:0033257Delayed ability to walk with support1AK9 CL E G H22126498913ORPHA04833814615358
HP:0002194HP:0033128Delayed ability to crawl1AK9 CL E G H22126498913ORPHA04833814615358
HP:0002194HP:0031936Delayed ability to walk1AK9 CL E G H22126498913ORPHA04833814615358
HP:0002194HP:0025335Delayed ability to stand1AK9 CL E G H22126498913ORPHA04833814615358
HP:0002194HP:0025336Delayed ability to sit1BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM04231067112264
HP:0002194HP:0032989Delayed ability to roll over1BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM04231067112264
HP:0002194HP:0033257Delayed ability to walk with support1BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM04231067112264
HP:0002194HP:0033128Delayed ability to crawl1BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM04231067112264
HP:0002194HP:0031936Delayed ability to walk1BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM04231067112264
HP:0002194HP:0025335Delayed ability to stand1BMP1 CL E G H649614856Osteogenesis imperfecta, type xiii614856C3553887OMIM04231067112264
HP:0002194HP:0025335Delayed ability to stand1CHRNA1 CL E G H113498913ORPHA03981955100690
HP:0002194HP:0025336Delayed ability to sit1CHRNA1 CL E G H113498913ORPHA03981955100690
HP:0002194HP:0033257Delayed ability to walk with support1CHRNA1 CL E G H113498913ORPHA03981955100690
HP:0002194HP:0032989Delayed ability to roll over1CHRNA1 CL E G H113498913ORPHA03981955100690
HP:0002194HP:0033128Delayed ability to crawl1CHRNA1 CL E G H113498913ORPHA03981955100690
HP:0002194HP:0031936Delayed ability to walk1CHRNA1 CL E G H113498913ORPHA03981955100690
HP:0002194HP:0033128Delayed ability to crawl1CHRNB1 CL E G H114098913ORPHA03571961100710
HP:0002194HP:0031936Delayed ability to walk1CHRNB1 CL E G H114098913ORPHA03571961100710
HP:0002194HP:0025335Delayed ability to stand1CHRNB1 CL E G H114098913ORPHA03571961100710
HP:0002194HP:0025336Delayed ability to sit1CHRNB1 CL E G H114098913ORPHA03571961100710
HP:0002194HP:0032989Delayed ability to roll over1CHRNB1 CL E G H114098913ORPHA03571961100710
HP:0002194HP:0033257Delayed ability to walk with support1CHRNB1 CL E G H114098913ORPHA03571961100710
HP:0002194HP:0032989Delayed ability to roll over1CHRND CL E G H114498913ORPHA04081965100720
HP:0002194HP:0033257Delayed ability to walk with support1CHRND CL E G H114498913ORPHA04081965100720
HP:0002194HP:0033128Delayed ability to crawl1CHRND CL E G H114498913ORPHA04081965100720
HP:0002194HP:0031936Delayed ability to walk1CHRND CL E G H114498913ORPHA04081965100720
HP:0002194HP:0025335Delayed ability to stand1CHRND CL E G H114498913ORPHA04081965100720
HP:0002194HP:0025336Delayed ability to sit1CHRND CL E G H114498913ORPHA04081965100720
HP:0002194HP:0025336Delayed ability to sit1CHRNE CL E G H114598913ORPHA07951966100725
HP:0002194HP:0033257Delayed ability to walk with support1CHRNE CL E G H114598913ORPHA07951966100725
HP:0002194HP:0032989Delayed ability to roll over1CHRNE CL E G H114598913ORPHA07951966100725
HP:0002194HP:0031936Delayed ability to walk1CHRNE CL E G H114598913ORPHA07951966100725
HP:0002194HP:0033128Delayed ability to crawl1CHRNE CL E G H114598913ORPHA07951966100725
HP:0002194HP:0025335Delayed ability to stand1CHRNE CL E G H114598913ORPHA07951966100725
HP:0002194HP:0025335Delayed ability to stand1COL13A1 CL E G H130598913ORPHA03972190120350
HP:0002194HP:0025336Delayed ability to sit1COL13A1 CL E G H130598913ORPHA03972190120350
HP:0002194HP:0032989Delayed ability to roll over1COL13A1 CL E G H130598913ORPHA03972190120350
HP:0002194HP:0033257Delayed ability to walk with support1COL13A1 CL E G H130598913ORPHA03972190120350
HP:0002194HP:0033128Delayed ability to crawl1COL13A1 CL E G H130598913ORPHA03972190120350
HP:0002194HP:0031936Delayed ability to walk1COL13A1 CL E G H130598913ORPHA03972190120350
HP:0002194HP:0033128Delayed ability to crawl1DOK7 CL E G H28548998913ORPHA084026594610285
HP:0002194HP:0031936Delayed ability to walk1DOK7 CL E G H28548998913ORPHA084026594610285
HP:0002194HP:0025335Delayed ability to stand1DOK7 CL E G H28548998913ORPHA084026594610285
HP:0002194HP:0025336Delayed ability to sit1DOK7 CL E G H28548998913ORPHA084026594610285
HP:0002194HP:0032989Delayed ability to roll over1DOK7 CL E G H28548998913ORPHA084026594610285
HP:0002194HP:0033257Delayed ability to walk with support1DOK7 CL E G H28548998913ORPHA084026594610285
HP:0002194HP:0033128Delayed ability to crawl1FLVCR1 CL E G H2898288628ORPHA044824682609144
HP:0002194HP:0031936Delayed ability to walk1FLVCR1 CL E G H2898288628ORPHA044824682609144
HP:0002194HP:0025335Delayed ability to stand1FLVCR1 CL E G H2898288628ORPHA044824682609144
HP:0002194HP:0025336Delayed ability to sit1FLVCR1 CL E G H2898288628ORPHA044824682609144
HP:0002194HP:0032989Delayed ability to roll over1FLVCR1 CL E G H2898288628ORPHA044824682609144
HP:0002194HP:0033257Delayed ability to walk with support1FLVCR1 CL E G H2898288628ORPHA044824682609144
HP:0002194HP:0025335Delayed ability to stand1GJC2 CL E G H57165320401ORPHA025017494608803
HP:0002194HP:0025336Delayed ability to sit1GJC2 CL E G H57165320401ORPHA025017494608803
HP:0002194HP:0033257Delayed ability to walk with support1GJC2 CL E G H57165320401ORPHA025017494608803
HP:0002194HP:0032989Delayed ability to roll over1GJC2 CL E G H57165320401ORPHA025017494608803
HP:0002194HP:0033128Delayed ability to crawl1GJC2 CL E G H57165320401ORPHA025017494608803
HP:0002194HP:0031936Delayed ability to walk1GJC2 CL E G H57165320401ORPHA025017494608803
HP:0002194HP:0025335Delayed ability to stand1HUWE1 CL E G H1007585328ORPHA091930892300697
HP:0002194HP:0025336Delayed ability to sit1HUWE1 CL E G H1007585328ORPHA091930892300697
HP:0002194HP:0032989Delayed ability to roll over1HUWE1 CL E G H1007585328ORPHA091930892300697
HP:0002194HP:0033257Delayed ability to walk with support1HUWE1 CL E G H1007585328ORPHA091930892300697
HP:0002194HP:0033128Delayed ability to crawl1HUWE1 CL E G H1007585328ORPHA091930892300697
HP:0002194HP:0031936Delayed ability to walk1HUWE1 CL E G H1007585328ORPHA091930892300697
HP:0002194HP:0025335Delayed ability to stand1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0002194HP:0025336Delayed ability to sit1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0002194HP:0032989Delayed ability to roll over1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0002194HP:0033257Delayed ability to walk with support1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0002194HP:0033128Delayed ability to crawl1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0002194HP:0031936Delayed ability to walk1LARS CL E G H51520615438Infantile liver failure syndrome 1615438C3809522OMIM06512151350
HP:0002194HP:0032989Delayed ability to roll over1LRP4 CL E G H403898913ORPHA07906696604270
HP:0002194HP:0033257Delayed ability to walk with support1LRP4 CL E G H403898913ORPHA07906696604270
HP:0002194HP:0033128Delayed ability to crawl1LRP4 CL E G H403898913ORPHA07906696604270
HP:0002194HP:0031936Delayed ability to walk1LRP4 CL E G H403898913ORPHA07906696604270
HP:0002194HP:0025335Delayed ability to stand1LRP4 CL E G H403898913ORPHA07906696604270
HP:0002194HP:0025336Delayed ability to sit1LRP4 CL E G H403898913ORPHA07906696604270
HP:0002194HP:0025335Delayed ability to stand1LRP5 CL E G H40412788ORPHA013546697603506
HP:0002194HP:0025336Delayed ability to sit1LRP5 CL E G H40412788ORPHA013546697603506
HP:0002194HP:0033257Delayed ability to walk with support1LRP5 CL E G H40412788ORPHA013546697603506
HP:0002194HP:0032989Delayed ability to roll over1LRP5 CL E G H40412788ORPHA013546697603506
HP:0002194HP:0033128Delayed ability to crawl1LRP5 CL E G H40412788ORPHA013546697603506
HP:0002194HP:0031936Delayed ability to walk1LRP5 CL E G H40412788ORPHA013546697603506
HP:0002194HP:0025335Delayed ability to stand1MT-TE CL E G H4556254864ORPHA07479590025
HP:0002194HP:0025336Delayed ability to sit1MT-TE CL E G H4556254864ORPHA07479590025
HP:0002194HP:0032989Delayed ability to roll over1MT-TE CL E G H4556254864ORPHA07479590025
HP:0002194HP:0033257Delayed ability to walk with support1MT-TE CL E G H4556254864ORPHA07479590025
HP:0002194HP:0033128Delayed ability to crawl1MT-TE CL E G H4556254864ORPHA07479590025
HP:0002194HP:0031936Delayed ability to walk1MT-TE CL E G H4556254864ORPHA07479590025
HP:0002194HP:0025336Delayed ability to sit1MUSK CL E G H459398913ORPHA04967525601296
HP:0002194HP:0032989Delayed ability to roll over1MUSK CL E G H459398913ORPHA04967525601296
HP:0002194HP:0033257Delayed ability to walk with support1MUSK CL E G H459398913ORPHA04967525601296
HP:0002194HP:0033128Delayed ability to crawl1MUSK CL E G H459398913ORPHA04967525601296
HP:0002194HP:0031936Delayed ability to walk1MUSK CL E G H459398913ORPHA04967525601296
HP:0002194HP:0025335Delayed ability to stand1MUSK CL E G H459398913ORPHA04967525601296
HP:0002194HP:0033128Delayed ability to crawl1NAA10 CL E G H8260276432ORPHA036118704300013
HP:0002194HP:0031936Delayed ability to walk1NAA10 CL E G H8260276432ORPHA036118704300013
HP:0002194HP:0025335Delayed ability to stand1NAA10 CL E G H8260276432ORPHA036118704300013
HP:0002194HP:0025336Delayed ability to sit1NAA10 CL E G H8260276432ORPHA036118704300013
HP:0002194HP:0032989Delayed ability to roll over1NAA10 CL E G H8260276432ORPHA036118704300013
HP:0002194HP:0033257Delayed ability to walk with support1NAA10 CL E G H8260276432ORPHA036118704300013
HP:0002194HP:0032989Delayed ability to roll over1PLEC CL E G H5339254361ORPHA041529069601282
HP:0002194HP:0033257Delayed ability to walk with support1PLEC CL E G H5339254361ORPHA041529069601282
HP:0002194HP:0033128Delayed ability to crawl1PLEC CL E G H5339254361ORPHA041529069601282
HP:0002194HP:0031936Delayed ability to walk1PLEC CL E G H5339254361ORPHA041529069601282
HP:0002194HP:0025335Delayed ability to stand1PLEC CL E G H5339254361ORPHA041529069601282
HP:0002194HP:0025336Delayed ability to sit1PLEC CL E G H5339254361ORPHA041529069601282
HP:0002194HP:0032989Delayed ability to roll over1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA027509588601728
HP:0002194HP:0033257Delayed ability to walk with support1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA027509588601728
HP:0002194HP:0031936Delayed ability to walk1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA027509588601728
HP:0002194HP:0033128Delayed ability to crawl1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA027509588601728
HP:0002194HP:0025335Delayed ability to stand1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA027509588601728
HP:0002194HP:0025336Delayed ability to sit1PTEN CL E G H5728109Bannayan-Riley-Ruvalcaba syndromeC0265326ORPHA027509588601728
HP:0002194HP:0025335Delayed ability to stand1RAPSN CL E G H591398913ORPHA04339863601592
HP:0002194HP:0025336Delayed ability to sit1RAPSN CL E G H591398913ORPHA04339863601592
HP:0002194HP:0033257Delayed ability to walk with support1RAPSN CL E G H591398913ORPHA04339863601592
HP:0002194HP:0032989Delayed ability to roll over1RAPSN CL E G H591398913ORPHA04339863601592
HP:0002194HP:0033128Delayed ability to crawl1RAPSN CL E G H591398913ORPHA04339863601592
HP:0002194HP:0031936Delayed ability to walk1RAPSN CL E G H591398913ORPHA04339863601592
HP:0002194HP:0033128Delayed ability to crawl1SCN4A CL E G H632998913ORPHA0139110591603967
HP:0002194HP:0031936Delayed ability to walk1SCN4A CL E G H632998913ORPHA0139110591603967
HP:0002194HP:0025335Delayed ability to stand1SCN4A CL E G H632998913ORPHA0139110591603967
HP:0002194HP:0025336Delayed ability to sit1SCN4A CL E G H632998913ORPHA0139110591603967
HP:0002194HP:0032989Delayed ability to roll over1SCN4A CL E G H632998913ORPHA0139110591603967
HP:0002194HP:0033257Delayed ability to walk with support1SCN4A CL E G H632998913ORPHA0139110591603967
HP:0002194HP:0025335Delayed ability to stand1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0002194HP:0025336Delayed ability to sit1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0002194HP:0032989Delayed ability to roll over1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0002194HP:0033257Delayed ability to walk with support1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0002194HP:0033128Delayed ability to crawl1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0002194HP:0031936Delayed ability to walk1TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM034511535313650
HP:0002194HP:0025336Delayed ability to sit1TRMU CL E G H55687254864ORPHA051825481610230
HP:0002194HP:0033257Delayed ability to walk with support1TRMU CL E G H55687254864ORPHA051825481610230
HP:0002194HP:0032989Delayed ability to roll over1TRMU CL E G H55687254864ORPHA051825481610230
HP:0002194HP:0031936Delayed ability to walk1TRMU CL E G H55687254864ORPHA051825481610230
HP:0002194HP:0033128Delayed ability to crawl1TRMU CL E G H55687254864ORPHA051825481610230
HP:0002194HP:0025335Delayed ability to stand1TRMU CL E G H55687254864ORPHA051825481610230


Genes (125) :ADCY5 AGRN AHI1 AK9 AMPD2 ASXL3 ATG5 ATP6V1A BCL11B BIN1 BMP1 BRAT1 BRPF1 CAMK2A CDK13 CFL2 CHD3 CHRNA1 CHRNB1 CHRND CHRNE CHST3 CLP1 CNTNAP2 COG1 COL11A2 COL12A1 COL13A1 COL1A1 COL1A2 COL2A1 CPLX1 DHX30 DLAT DNAJC19 DNM2 DOCK3 DOK7 DPF2 DSE DYNC1H1 EBF3 EP300 ERLIN2 FBXO11 FGF3 FKRP FLRT1 FLVCR1 FOXP1 FRMPD4 FTSJ1 GALE GJC2 GRIA4 HARS HECW2 HOXA1 HUWE1 ITPR1 KDM5B KIDINS220 KIF14 KLC2 KMT2A KY LARS LRP4 LRP5 MAGEL2 MBOAT7 MFN2 MPZ MTMR14 MTPAP MUSK MYF6 MYH7 MYO9A NAA10 NDUFA1 NDUFA12 NPHP1 PACS2 PAK1 PAK3 PIEZO2 PIGC PLEC PPP2R1A PRMT7 PTEN RAB11B RAPSN REPS1 RNU12 RUBCN RUSC2 RYR1 SCN4A SELENON SET SLC18A2 SLC25A1 SLC5A7 SLC6A3 SMC1A SUCLA2 SYT1 TAF1 TIMM50 TK2 TMEM94 TMTC3 TNNT1 TNPO3 TRAPPC9 TRMT1 TRMU TRNE TTN TUBB3 WDR26 ZNF148 ZSWIM6

Diseases (109) :324588 98913 401805 169189 614856 610687 143095 411493 610042 3450 130060 617821 245348 66634 615539 613684 209951 610706 606612 320406 88628 613670 309549 230350 320401 614504 601536 85328 208513 521390 617914 319182 496689 615438 2788 617087 324604 276432 609583 300558 254361 616362 109 512260 404499 178145 613135 1933 612073 300966 609560 605355 254864 608629 615686 615485 617584 618012 618092 618056 617333 617798 617360 618205 611209 616471 617976 617804 618292 618027 158600 617330 611225 618089 609033 300983 617864 617268 618109 615547 617188 618184 613672 618198 301020 618244 618067 618158 617146 617816 617157 617807 617916 617773 618106 618049 618197 617143 618218 617698 618316 617255 608423 613192 618302 300570 617616 617260 617865
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.