Human Phenotype Ontology 
Grandparent Node:
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Neurodevelopmental delay (HP:0012758)help
Parent Node:
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Global developmental delay (HP:0001263)help
..Starting node
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Mild global developmental delay (HP:0011342)help
Term ID: 11342
Name: Mild global developmental delay
Synonym: Global developmental delay, mild; Psychomotor retardation, mild
Definition: A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
Comments:
Reference: HP:0011342
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandModerate global developmental delay (HP:0011343) help
..expandProfound global developmental delay (HP:0012736) help
..expandSevere global developmental delay (HP:0011344) 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:0011342HP:0011342Mild global developmental delay0AASS CL E G H1015717366ORPHA:2203HyperlysinemiaHP:0040283 - Occasional15
HP:0011342HP:0011342Mild global developmental delay0ABCA2 CL E G H2032OMIM:618808INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
HP:0011342HP:0011342Mild global developmental delay0ABCC8 CL E G H683359ORPHA:79134DEND syndromeHP:0040282 - Frequent245
HP:0011342HP:0011342Mild global developmental delay0ACAD8 CL E G H2703487ORPHA:79159Isobutyryl-CoA dehydrogenase deficiencyHP:0040283 - Occasional58
HP:0011342HP:0011342Mild global developmental delay0ACTB CL E G H60132OMIM:607371Dystonia, juvenile-onset.72
HP:0011342HP:0011342Mild global developmental delay0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0011342HP:0011342Mild global developmental delay0ALB CL E G H213399ORPHA:86816Congenital analbuminemiaHP:0040283 - Occasional104
HP:0011342HP:0011342Mild global developmental delay0ALDH4A1 CL E G H8659406ORPHA:79101Hyperprolinemia type 2HP:0040283 - Occasional74
HP:0011342HP:0011342Mild global developmental delay0AP3B1 CL E G H8546566OMIM:608233Hermansky-Pudlak syndrome 283
HP:0011342HP:0011342Mild global developmental delay0ASPA CL E G H443756ORPHA:314918Mild Canavan diseaseHP:0040282 - Frequent48
HP:0011342HP:0011342Mild global developmental delay0ATR CL E G H545882ORPHA:808Seckel syndromeHP:0040281 - Very frequent168
HP:0011342HP:0011342Mild global developmental delay0ATRIP CL E G H8412633499ORPHA:808Seckel syndromeHP:0040281 - Very frequent1
HP:0011342HP:0011342Mild global developmental delay0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0011342HP:0011342Mild global developmental delay0CDC6 CL E G H9901744OMIM:613805Meier-Gorlin syndrome 5.31
HP:0011342HP:0011342Mild global developmental delay0CDH2 CL E G H10001759OMIM:619957
HP:0011342HP:0011342Mild global developmental delay0CENPE CL E G H10621856ORPHA:808Seckel syndromeHP:0040281 - Very frequent20
HP:0011342HP:0011342Mild global developmental delay0CENPJ CL E G H5583517272ORPHA:808Seckel syndromeHP:0040281 - Very frequent161
HP:0011342HP:0011342Mild global developmental delay0CEP152 CL E G H2299529298ORPHA:808Seckel syndromeHP:0040281 - Very frequent146
HP:0011342HP:0011342Mild global developmental delay0COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040283 - Occasional52
HP:0011342HP:0011342Mild global developmental delay0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg.52
HP:0011342HP:0011342Mild global developmental delay0CTNNB1 CL E G H14992514ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional88
HP:0011342HP:0011342Mild global developmental delay0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0011342HP:0011342Mild global developmental delay0DBR1 CL E G H5116315594OMIM:619441ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11; IIAE11
HP:0011342HP:0011342Mild global developmental delay0DHTKD1 CL E G H5552623537OMIM:2047502-AMINOADIPIC 2-OXOADIPIC ACIDURIA; AMOXAD12
HP:0011342HP:0011342Mild global developmental delay0DOLK CL E G H2284523406ORPHA:91131DK1-CDG55
HP:0011342HP:0011342Mild global developmental delay0EYA1 CL E G H21383519OMIM:113650Branchiootorenal syndrome 1135
HP:0011342HP:0011342Mild global developmental delay0FTCD CL E G H108413974ORPHA:51208Formiminoglutamic aciduriaHP:0040283 - Occasional65
HP:0011342HP:0011342Mild global developmental delay0FZD4 CL E G H83224042ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional109
HP:0011342HP:0011342Mild global developmental delay0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0011342HP:0011342Mild global developmental delay0GJA1 CL E G H26974274OMIM:257850Oculodentodigital dysplasia, autosomal recessive.68
HP:0011342HP:0011342Mild global developmental delay0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0011342HP:0011342Mild global developmental delay0IARS1 CL E G H33765330ORPHA:541423Growth delay-intellectual disability-hepatopathy syndromeHP:0040283 - Occasional
HP:0011342HP:0011342Mild global developmental delay0KCNJ11 CL E G H37676257ORPHA:79134DEND syndromeHP:0040282 - Frequent127
HP:0011342HP:0011342Mild global developmental delay0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0011342HP:0011342Mild global developmental delay0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0011342HP:0011342Mild global developmental delay0LRP5 CL E G H40416697ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional125
HP:0011342HP:0011342Mild global developmental delay0LRP5 CL E G H40416697ORPHA:178377Osteosclerosis-developmental delay-craniosynostosis syndromeHP:0040283 - Occasional125
HP:0011342HP:0011342Mild global developmental delay0MAP1B CL E G H41316836OMIM:618918PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0011342HP:0011342Mild global developmental delay0MCM4 CL E G H41736947OMIM:609981Immunodeficiency 5469
HP:0011342HP:0011342Mild global developmental delay0NARS2 CL E G H7973126274ORPHA:79134DEND syndromeHP:0040282 - Frequent34
HP:0011342HP:0011342Mild global developmental delay0NDP CL E G H46937678ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0011342HP:0011342Mild global developmental delay0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0011342HP:0011342Mild global developmental delay0NONO CL E G H48417871OMIM:300967MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS3410
HP:0011342HP:0011342Mild global developmental delay0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0011342HP:0011342Mild global developmental delay0NUP85 CL E G H799028734ORPHA:808Seckel syndromeHP:0040281 - Very frequent
HP:0011342HP:0011342Mild global developmental delay0OCRL CL E G H49528108OMIM:300555Dent disease 288
HP:0011342HP:0011342Mild global developmental delay0PCNT CL E G H511616068ORPHA:808Seckel syndromeHP:0040281 - Very frequent531
HP:0011342HP:0011342Mild global developmental delay0PDP1 CL E G H547049279ORPHA:79246Pyruvate dehydrogenase phosphatase deficiencyHP:0040282 - Frequent52
HP:0011342HP:0011342Mild global developmental delay0PEPD CL E G H51848840OMIM:170100Prolidase deficiency66
HP:0011342HP:0011342Mild global developmental delay0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0011342HP:0011342Mild global developmental delay0PLK4 CL E G H1073311397ORPHA:808Seckel syndromeHP:0040281 - Very frequent11
HP:0011342HP:0011342Mild global developmental delay0PLP1 CL E G H53549086ORPHA:280229Pelizaeus-Merzbacher disease in female carriersHP:0040283 - Occasional60
HP:0011342HP:0011342Mild global developmental delay0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0011342HP:0011342Mild global developmental delay0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0011342HP:0011342Mild global developmental delay0RBBP8 CL E G H59329891ORPHA:808Seckel syndromeHP:0040281 - Very frequent68
HP:0011342HP:0011342Mild global developmental delay0RBBP8 CL E G H59329891OMIM:606744Seckel syndrome 268
HP:0011342HP:0011342Mild global developmental delay0RNF168 CL E G H16591826661OMIM:611943Riddle syndrome7
HP:0011342HP:0011342Mild global developmental delay0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0011342HP:0011342Mild global developmental delay0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0011342HP:0011342Mild global developmental delay0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0011342HP:0011342Mild global developmental delay0SIX1 CL E G H649510887OMIM:113650Branchiootorenal syndrome 150
HP:0011342HP:0011342Mild global developmental delay0SOX3 CL E G H665811199ORPHA:67045X-linked intellectual disability with isolated growth hormone deficiencyHP:0040283 - Occasional24
HP:0011342HP:0011342Mild global developmental delay0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0011342HP:0011342Mild global developmental delay0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0011342HP:0011342Mild global developmental delay0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0011342HP:0011342Mild global developmental delay0TBX4 CL E G H949611603ORPHA:26127917q23.1q23.2 microdeletion syndromeHP:0040281 - Very frequent55
HP:0011342HP:0011342Mild global developmental delay0TCF12 CL E G H693811623OMIM:615314Craniosynostosis 328
HP:0011342HP:0011342Mild global developmental delay0TOP3A CL E G H715611992OMIM:618097Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0011342HP:0011342Mild global developmental delay0TPP2 CL E G H717412016OMIM:619220IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0011342HP:0011342Mild global developmental delay0TRAIP CL E G H1029330764ORPHA:808Seckel syndromeHP:0040281 - Very frequent2
HP:0011342HP:0011342Mild global developmental delay0TRNK CL E G H45667489ORPHA:1349Mitochondrial DNA-related cardiomyopathy and hearing lossHP:0040281 - Very frequent
HP:0011342HP:0011342Mild global developmental delay0TSPAN12 CL E G H2355421641ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional39
HP:0011342HP:0011342Mild global developmental delay0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040282 - Frequent8
HP:0011342HP:0011342Mild global developmental delay0ZNF408 CL E G H7979720041ORPHA:891Familial exudative vitreoretinopathyHP:0040283 - Occasional14
HP:0011342HP:0011342Mild global developmental delay0ZNF462 CL E G H5849921684OMIM:618619WEISS-KRUSZKA SYNDROME; WSKA4


Genes (71) :AASS ABCA2 ABCC8 ACAD8 ACTB ADNP ALB ALDH4A1 AP3B1 ASPA ATR ATRIP B4GALT7 CDC6 CDH2 CENPE CENPJ CEP152 COG1 CTNNB1 CTSK DBR1 DHTKD1 DOLK EYA1 FTCD FZD4 GJA1 GNB2 IARS1 KCNJ11 LCA5 LRAT LRP5 MAP1B MCM4 NARS2 NDP NFE2L2 NONO NSMCE3 NUP85 OCRL PCNT PDP1 PEPD PHKB PLK4 PLP1 POLRMT PRKAR1A RBBP8 RNF168 RPE65 RRAS2 SF3B2 SIX1 SOX3 SOX9 SPATA7 TANGO2 TBX4 TCF12 TOP3A TPP2 TRAIP TRNK TSPAN12 WDR26 ZNF408 ZNF462

Diseases (55) :ORPHA:2203 OMIM:618808 ORPHA:79134 ORPHA:79159 OMIM:607371 ORPHA:404448 ORPHA:86816 ORPHA:79101 OMIM:608233 ORPHA:314918 ORPHA:808 OMIM:130070 OMIM:613805 OMIM:619957 ORPHA:263508 OMIM:611209 ORPHA:891 ORPHA:763 OMIM:619441 OMIM:204750 ORPHA:91131 OMIM:113650 ORPHA:51208 ORPHA:2710 OMIM:257850 OMIM:619503 ORPHA:541423 ORPHA:364055 ORPHA:178377 OMIM:618918 OMIM:609981 OMIM:617744 OMIM:300967 OMIM:617241 OMIM:300555 ORPHA:79246 OMIM:170100 ORPHA:79240 ORPHA:280229 OMIM:619743 OMIM:101800 OMIM:606744 OMIM:611943 OMIM:618624 OMIM:164210 ORPHA:67045 OMIM:114290 ORPHA:480864 ORPHA:261279 OMIM:615314 OMIM:618097 OMIM:619220 ORPHA:1349 ORPHA:513456 OMIM:618619
 

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