Growth delay
Basic details
Preferred term: Growth delay
Alt. terms: Retarded growth | Growth failure | Delayed growth | Growth deficiency | Poor growth
HPO term: Growth delay
HPO code: HP:0001510
GenIA ID: 439
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: -
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: E45
Description
A deficiency or slowing down of growth pre- and postnatally.
Hierarchical classification
PARENT terms
TERM
Growth delay
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101043 | M | 210725![]() |
- | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.H:II.2(30)]; PMID:34975878 [Fam.F017:P017] |
101062 | M | 212603![]() |
- | South Asian | short stature | ARPC1B deficiency | PMID:28368018 [Fam.1:II.1(P1)]; PMID:30771411 [P9]; PMID:34673575 [Fam.1:II.1(P1)] |
101067 | M | 211264 | 7 | Growth delay | PMID:34975878 [Fam.F036:P036] | ||
101076 | F | 210226 | 48 | German | Growth delay | PMID:34975878 [Fam.F041:P041] | |
101077 | F | 210211 | 18 | German | Delayed puberty | PMID:34975878 [Fam.F043:P043] | |
101095 | M | 210286 | - | short stature | PMID:34975878 [Fam.F060:P060] | ||
101199 | F | 211483 | - | German | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.YY:II.1(127)]; PMID:34975878 [Fam.F122:P122] |
101235 | M | 210135 | 2 | Arab | Growth delay | PMID:22608502 [Fam.A:I.1] | |
101268 | F | 212145 | - | Iranian | Growth delay | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.D:II.2(P5)]; PMID:29528757 [Case 8]; PMID:26707784 [P5]; PMID:28512785 [P16] |
101296 | M | 210135 | 2 | Arab | Growth delay | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.3(P1)]; PMID:26707784 [P1] |
101356 | F | 210135 | 2 | Arab | Growth delay | Immunodeficiency, common variable, 8 | PMID:22608502 [Fam.A:II.4(P2)]; PMID:26707784 [P2] |
101375 | F | 212162 | 3 | Iranian | Growth delay | Immunodeficiency, common variable, 8 | PMID:29461210 [Fam.1:II.1(P1)]; PMID:29528757 [Case 3]; PMID:26707784 [Fam.F:IV.1(P30)]; PMID:25011360 [Case 2]; PMID:26993986 [Fam.F7:II.1(1)]; PMID:28512785 [P8] |
101386 | F | 212164 | - | Pakistani | Growth delay | Immunodeficiency, common variable, 8 | PMID:22981790 [P1(II.1)]; PMID:26707784 [P11] |
101395 | M | 212167 | - | Egyptian | Postnatal growth retardation | Immunodeficiency, common variable, 8 | PMID:27683652 [P1(II.1)] |
101398 | F | 212167 | - | Egyptian | Delayed puberty | Immunodeficiency, common variable, 8 | PMID:27683652 [Fam.P1:II.4(P2)] |
101399 | F | 210189![]() |
- | German | short stature | Adenosine deaminase 2 deficiency | PMID:28493328 [P6]; PMID:26922074 [Fam.Index:II.1(sister1)] |
101446 | M | 212176 | 1 | North American | Growth delay | Immunodeficiency, common variable, 8 | PMID:26206937 [P9] |
101573 | F | 210707 | - | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:34975878 [Fam.F196:P196] | |
101592 | M | 212605![]() |
-,- | Moroccan | Growth delay,short stature | ARPC1B deficiency | PMID:27965109 [P1(II.1)]; PMID:30771411 [P1]; PMID:31710310 [Patient]; PMID:32499645 [Case 1]; PMID:34135903 [Patient] |
101601 | M | 212619![]() |
0 | Italian | Growth delay | ARPC1B deficiency | PMID:30254128 [Fam.A:II.1(P1)]; PMID:30771411 [P2]; PMID:35967303 [Pt2]; PMID:35767111 [P2] |
101604 | M | 212620![]() |
- | Italian | Growth delay | ARPC1B deficiency | PMID:30254128 [Fam.B:II.1(P2)]; PMID:30771411 [P3]; PMID:35967303 [Pt1]; PMID:35767111 [P1] |
101608 | M | 212621![]() |
- | Canadian | Growth delay | ARPC1B deficiency | PMID:30254128 [Fam.C:II.1(P3)]; PMID:16019263 [case]; PMID:35967303 [Pt3] |
101611 | M | 212622![]() |
- | Colombian | Growth delay | ARPC1B deficiency | PMID:30254128 [Fam.D:II.4(P4)] |
101613 | F | 210737 | 17 | Growth delay | PMID:34975878 [Fam.F210:P210] | ||
101631 | F | 212624![]() |
- | Turkish | Growth delay | ARPC1B deficiency | PMID:30254128 [Fam.F:II.1(P6)] |
101717 | F | 210260![]() |
- | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.3(C.II.3)]; PMID:29729943 [Fam.C:II.3(C.II.3 (19))]; PMID:27418640 [P16(5)] |
101718 | F | 210260![]() |
- | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:25329329 [Fam.C:II.4(C.II.4)]; PMID:29729943 [Fam.C:II.4(C.II.4 (20))]; PMID:27418640 [P17(5)] |
101777 | F | 210920 | - | Libyan | short stature | Immunodeficiency, common variable, 8 | PMID:26745254 [P1(II.1)] |
102124 | F | 214351![]() |
- | Sudanese | short stature | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.5(B.II.4)] |
102143 | M | 214416 | - | Slovenian | Growth delay | Immunodeficiency, common variable, 8 | PMID:28720148 [Patient] |
102175 | M | 210725![]() |
- | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [Fam.H:II.1]; PMID:29729943 [Fam.H:II.1(29)] |
102239 | F | 214923![]() |
2 | Brasilian | Growth delay | ARPC1B deficiency | GRID:000604 [case(II.2)]; PMID:37349293 [Fam.B:II.1(Patient)] |
102260 | F | 214926![]() |
- | Mexican | short stature | ARPC1B deficiency | PMID:32683750 [Fam.case:II.2(sister)]; PMID:36708766 [Fam.A:II.2(P1)] |
102368 | F | 214938![]() |
0 | Afghanistani | Growth delay | Stuve-Wiedemann syndrome 2 | PMID:31914175 [Fam.A:II.2] |
102401 | F | 214938![]() |
0 | Afghanistani | Growth abnormality | Stuve-Wiedemann syndrome 2 | PMID:31914175 [Fam.A:II.1] |
102417 | F | 214946![]() |
0 | Dutch | short stature | Stuve-Wiedemann syndrome 2 | PMID:31914175 [Fam.C:II.3] |
102419 | M | 214948![]() |
- | Irish Traveller | Intrauterine growth retardation | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.8(P1)]; PMID:22354167 [Fam.A:IV.8(P1.1)] |
102433 | M | 214951![]() |
- | Irish Traveller | Intrauterine growth retardation | Immunodeficiency 54 | PMID:22354167 [Fam.B:II.1(P2.1)] |
102466 | M | 214962![]() |
2,- | Polish | Growth delay,short stature | Immunodeficiency 94 | PMID:33517393 [Patient(III.7)] |
102477 | M | 214964![]() |
- | Turkish | short stature | Hyper-IgE recurrent infection syndrome 4B | PMID:30309848 [Patient(III.5)] |
102507 | F | 214948![]() |
- | Irish Traveller | Intrauterine growth retardation | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.9(P2)]; PMID:22354167 [Fam.A:IV.10(P1.2)] |
102509 | M | 214948![]() |
- | Irish Traveller | Intrauterine growth retardation | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.12(P3)]; PMID:22354167 [Fam.A:IV.12(P1.3)] |
102511 | M | 214948![]() |
- | Irish Traveller | Intrauterine growth retardation | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.14(P4)]; PMID:22354167 [Fam.A:IV.14(P1.4)] |
102512 | F | 214948![]() |
- | Irish Traveller | Intrauterine growth retardation | Immunodeficiency 54 | PMID:16532402 [Fam.A:IV.15]; PMID:22354167 [Fam.A:IV.15(P1.5)] |
102528 | M | 214965![]() |
- | Irish Traveller | short stature | Immunodeficiency 54 | PMID:22354170 [Fam.C:II.4(P2)] |
102630 | M | 214970![]() |
1 | European | Growth delay | Immunodeficiency 98 with autoinflammation, somatic | PMID:33512449 [Fam.2:II.1(P2)] |
102653 | F | 214977![]() |
- | Irish Traveller | short stature | Immunodeficiency 54 | PMID:22499342 [Fam.1:III.11(III:11)] |
102654 | F | 214978![]() |
1 | North American | Growth delay | Immunodeficiency 8 | PMID:19097825 [Patient(II.2)]; PMID:18836449 [Patient(II.2)] |
102677 | M | 214980![]() |
16 | Pakistani | short stature | JAK1 deficiency | PMID:28008925 [Patient(II.4)] |
102711 | F | 214977![]() |
- | Irish Traveller | short stature | Immunodeficiency 54 | PMID:22499342 [Fam.1:IV.4(IV:4)] |
102716 | M | 214977![]() |
- | Irish Traveller | short stature | Immunodeficiency 54 | PMID:22499342 [Fam.1:IV.9(IV:9)] |
102717 | F | 214977![]() |
- | Irish Traveller | short stature | Immunodeficiency 54 | PMID:22499342 [Fam.1:IV.10(IV:10)] |
102719 | F | 214981![]() |
- | Canadian | short stature | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:II.2(Patient)]; PMID:36546480 [Fam.1:II.2(II-2)] |
102720 | F | 214977![]() |
- | Irish Traveller | short stature | Immunodeficiency 54 | PMID:22499342 [Fam.1:IV.12(IV:12)] |
102729 | M | 214981![]() |
0 | Canadian | short stature | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.1]; PMID:36546480 [Fam.1:III.1(III-1)] |
102730 | M | 214981![]() |
0 | Canadian | short stature | Autoinflammation, immune dysregulation, and eosinophilia | PMID:28111307 [Fam.1:III.2]; PMID:36546480 [Fam.1:III.2(III-2)] |
102731 | F | 214982![]() |
- | Colombian | Growth delay | Immunodeficiency 99 | PMID:32484799 [Patient(II.2)] |
102735 | F | 214983![]() |
- | North American | short stature | Autoinflammation, immune dysregulation, and eosinophilia | PMID:32750333 [Patient(II.2)] |
102739 | F | 214984![]() |
0 | Japanese | short stature | Autoinflammation, immune dysregulation, and eosinophilia | PMID:35046931 [Patient(II.1)] |
102814 | U | 214993![]() |
- | Caucasian | short stature | SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | PMID:16439205 [Patient]; PMID:12604777 [2BN(II.1)] |
102818 | M | 214993![]() |
- | Caucasian | short stature | SCID with microcephaly, growth retardation, and sensitivity to ionizing radiation | PMID:12604777 [Fam.2BN:II.2(3BN)] |
102891 | F | 215006![]() |
0 | Indian | Growth delay | T-cell immunodeficiency, congenital alopecia, and nail dystrophy | PMID:28636882 [Patient(II.3)]; PMID:33464451 [P6] |
103116 | F | 215101![]() |
- | Saudi | short stature | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [P1(IV.4)] |
103128 | F | 215101![]() |
- | Saudi | short stature | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.5] |
103129 | F | 215101![]() |
- | Saudi | short stature | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.6] |
103131 | M | 215101![]() |
- | Saudi | short stature | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.8] |
103152 | F | 215104![]() |
9 | Omani | short stature | Seizures, cortical blindness, microcephaly syndrome | PMID:26463574 [Fam.MC2500:IV.9(MC2501)] |
103466 | M | 215133![]() |
- | Irish Traveller | short stature | Immunodeficiency 54 | PMID:22499342 [Fam.3:II.1(II:1)] |
103473 | F | 215134![]() |
- | French | Intrauterine growth retardation | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.1(P1)]; PMID:14702466 [Fam.1:II.1(P1)] |
103477 | F | 215134![]() |
- | French | Intrauterine growth retardation | Immunodeficiency 55 | PMID:28414293 [Fam.A:II.3(P2)]; PMID:14702466 [Fam.1:II.3(P2)] |
103478 | M | 215135![]() |
- | French | Intrauterine growth retardation | Immunodeficiency 55 | PMID:28414293 [Fam.B:II.1(P3)] |
103482 | F | 215136![]() |
- | British | Intrauterine growth retardation | Immunodeficiency 55 | PMID:28414293 [Fam.C:II.1(P4)] |
103485 | F | 215137![]() |
- | French | Intrauterine growth retardation | Immunodeficiency 55 | PMID:28414293 [Fam.D:II.1(P5)] |
103488 | F | 215138 | 0 | Brasilian | short stature | Immunodeficiency 55 | PMID:31630891 [P9] |
103489 | M | 215139![]() |
- | Brasilian | short stature | Baraitser-Winter syndrome 2 | PMID:31630891 [P1] |
103490 | F | 215140![]() |
- | Brasilian | short stature | CHOPS syndrome | PMID:31630891 [P2] |
103491 | M | 215141![]() |
- | Brasilian | short stature | KBG syndrome | PMID:31630891 [P3] |
103492 | M | 215142![]() |
- | Brasilian | short stature | Intellectual developmental disorder with speech delay, dysmorphic facies, and T-cell abnormalities | PMID:31630891 [P4] |
103493 | F | 215143![]() |
- | Brasilian | short stature | Fanconi anemia, complementation group S | PMID:31630891 [P5]; PMID:29133208 [Patient(II.1)] |
103496 | F | 215144 | - | Brasilian | short stature | IMAGE syndrome | PMID:31630891 [P6] |
103497 | F | 215145![]() |
- | Brasilian | short stature | Otospondylomegaepiphyseal dysplasia | PMID:31630891 [P7] |
103498 | M | 215146![]() |
- | Brasilian | short stature | Legg-Calve-Perthes disease | PMID:31630891 [P8] |
103501 | M | 215147![]() |
- | Brasilian | short stature | Muscular dystrophy, congenital, with cataracts and intellectual disability | PMID:31630891 [P10] |
103502 | M | 215148![]() |
- | Brasilian | short stature | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation | PMID:31630891 [P11(II.1)] |
103505 | M | 215149![]() |
- | Brasilian | short stature | Wiedemann-Steiner syndrome | PMID:31630891 [P12] |
103506 | M | 215150![]() |
- | Brasilian | short stature | SOFT syndrome | PMID:31630891 [P13] |
103507 | M | 215151![]() |
- | Brasilian | short stature | Floating-Harbor syndrome | PMID:31630891 [P14] |
103508 | F | 215152![]() |
- | Brasilian | short stature | Floating-Harbor syndrome | PMID:31630891 [P15] |
103820 | M | 215254![]() |
23 | French | short stature | Adenosine deaminase 2 deficiency | PMID:25278816 [Fam.F785:II.5(P1)] |
103877 | F | 215266![]() |
-,- | Finnish | Delayed puberty,Growth delay | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P2]; PMID:25349174 [Fam.2:II.2(Patient 2)]; PMID:35677041 [Pt2] |
103880 | F | 215269![]() |
-,- | Finnish | Delayed puberty,Growth delay | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25038750 [P5]; PMID:25349174 [Fam.1:II.4(Patient 1)] |
103997 | M | 215318![]() |
- | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P1]; PMID:30092289 [P16] | |
104001 | F | 215322![]() |
- | North American | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P5]; PMID:32392079 [P3]; PMID:30092289 [P15]; PMID:35677041 [Pt3]; PMID:33651637 [Patient 1] |
104002 | F | 215323![]() |
- | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P6] | |
104003 | F | 215324 | - | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [P7] | |
104005 | F | 215326![]() |
- | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.1:II.1(P9)]; PMID:35677041 [Pt4] | |
104009 | M | 215327![]() |
- | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.2:II.1(P12)] | |
104011 | M | 215327![]() |
- | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:25359994 [Fam.2:I.2(P13)] | |
104226 | F | 215419![]() |
4 | Spanish | Postnatal growth retardation | Tubulointerstitial kidney disease type 5 | PMID:33185949 [case(II.1)] |
104392 | F | 215520![]() |
- | French | Intrauterine growth retardation | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36122175 [Patient] |
104398 | M | 215522![]() |
- | Czech | Intrauterine growth retardation | Systemic early-onset autoinflammation, vasculitis and hepatopathy | PMID:36932076 [P3(II.1)] |
104402 | M | 215523![]() |
- | Turkish | Growth delay | Immunodeficiency 114 | PMID:36517554 [Fam.Pt1:IV.4(Pt2)] |
104410 | M | 215525![]() |
- | Japanese | short stature | Early-onset atopic inflammation | PMID:36538978 [Patient(II.2)] |
104414 | M | 215526![]() |
0 | Turkish | Postnatal growth retardation | Early-onset atopic inflammation | PMID:36758835 [Patient(V.3)] |
104438 | F | 215527![]() |
- | Middle Eastern | short stature | Early-onset atopic inflammation | PMID:36884218 [Fam.A:II.1(P1)] |
104444 | F | 215528![]() |
- | Spanish | short stature | Early-onset atopic inflammation | PMID:36884218 [Fam.B:II.2(P2)] |
104449 | M | 215529![]() |
- | Middle Eastern | Growth delay | Early-onset atopic inflammation | PMID:36884218 [Fam.C:II.1(P4)] |
104458 | M | 215531![]() |
- | East Asian | short stature | Early-onset atopic inflammation | PMID:36884218 [Fam.E:II.1(P6)] |
104465 | M | 215533![]() |
- | short stature | Early-onset atopic inflammation | PMID:36884218 [Fam.G:II.1(P10)] | |
104473 | M | 215534![]() |
- | South Asian | short stature | Early-onset atopic inflammation | PMID:36884218 [Fam.H:II.1(P11)] |
104477 | M | 215535![]() |
- | SouthEast Asian | short stature | Early-onset atopic inflammation | PMID:36884218 [Fam.I:II.2(P12)] |
104481 | M | 215536![]() |
- | Caucasian | short stature | Early-onset atopic inflammation | PMID:36884218 [Fam.J:IV.2(P14)] |
104519 | F | 215537 | - | Gypsy | Growth delay | ARPC1B deficiency | PMID:31379835 [P1] |
104520 | M | 215537 | - | Gypsy | Growth delay | ARPC1B deficiency | PMID:31379835 [Fam.P1:II.2(P2)] |
104521 | F | 215538 | - | Gypsy | Growth delay | ARPC1B deficiency | PMID:31379835 [P3] |
104535 | M | 215547![]() |
- | Reunionese | Postnatal growth retardation | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.D:II.1(Patient D1)] |
104538 | M | 215547![]() |
- | Reunionese | Postnatal growth retardation | X-linked multisystem autoinflammatory disease with immune dysregulation | PMID:36952639 [Fam.D:II.2(Patient D2)] |
104568 | F | 215551![]() |
- | Pakistani | Growth delay | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.3(IV:3)]; PMID:32231246 [IV:3(IV.3)]; PMID:27559085 [Fam.1:IV.1(P4)]; PMID:38914362 [Fam.A:V.6(027)] |
104570 | F | 215551![]() |
- | Pakistani | Growth delay | Autoinflammation, panniculitis, and dermatosis syndrome | PMID:27523608 [Fam.1:IV.4(IV:4)]; PMID:27559085 [Fam.1:IV.3(NA)]; PMID:38914362 [Fam.A:V.7(028)] |
104639 | F | 215562 | 2 | Iraqi | short stature | Immunodeficiency 91 and hyperinflammation | PMID:33872655 [Fam.A:II.2(P1.2)] |
104671 | F | 215568![]() |
- | Lebanese | short stature | Severe early onset systemic inflammation and autoimmunity | PMID:37349293 [Fam.1:II.1(P1)] |
104715 | M | 215572![]() |
-,- | French | Growth delay,short stature | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [V-1(V.1)] |
104733 | F | 215572![]() |
- | French | short stature | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:II.16] |
104771 | M | 215572![]() |
- | French | short stature | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:IV.5] |
104782 | M | 215572![]() |
-,- | French | Growth delay,short stature | Autoinflammation, immune dysregulation, and eosinophilia | PMID:37343845 [Fam.V-1:V.2] |
104864 | F | 215598![]() |
- | short stature | Immunodeficiency, common variable, 14 | PMID:33864888 [S125]; PMID:37876937 [Fam.B:II.1(B.1)] | |
104886 | F | 215613![]() |
- | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.G:III.1(G.III.1 (26))]; PMID:25367873 [Fam.1:III.6(III.6)] |
104916 | M | 215613![]() |
- | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:30250467 [G.III.2]; PMID:29729943 [Fam.G:III.2(G.III.2 (27))]; PMID:25367873 [Fam.1:III.5(III.5)] |
105025 | F | 215626![]() |
- | French | Intrauterine growth retardation | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:32392079 [P1]; PMID:29590538 [Patient]; PMID:35677041 [Pt8] |
105028 | F | 215627 | -,- | French | Delayed puberty,Growth delay | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30299506 [Patient]; PMID:32392079 [P2]; PMID:35677041 [Pt10] |
105043 | F | 215630![]() |
- | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:27379089 [P9(II.1)]; PMID:29729943 [Fam.BBB:II.1(BBB.II.1 (131))] |
105046 | M | 215632![]() |
- | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Fam.1:II.1(Patient 1)] | |
105050 | F | 215633 | -,- | Growth delay,short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:28253502 [Patient 2] | |
105088 | M | 215638 | - | Japanese | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26644313 [II.3(II.3)]; PMID:30250467 [M.II.3]; PMID:29729943 [Fam.M:II.3(M.II.3 (37))]; PMID:27418640 [P21(II.3)]; PMID:35087518 [11.1] |
105103 | F | 215641 | 5 | South Korean | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:26478010 [III.2(III.2)] |
105112 | F | 215646 | - | Growth delay | NFKB1 insufficiency | PMID:27379089 [P5]; PMID:32278790 [BM.I.5]; PMID:29403474 [Patient 5 (10)]; PMID:150198 [Fam.AJ:147] | |
105176 | F | 215661 | - | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.L:II.1(L.II.1 (35))]; PMID:27102614 [Fam.C:II.1(3)] |
105180 | M | 215662 | - | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.S:II.1(S.II.1 (47))]; PMID:27102614 [Fam.D:II.1(5)] |
105339 | F | 215701![]() |
- | Pakistani | Intrauterine growth retardation | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.4(P1)] |
105355 | M | 215717 | 6 | Caucasian | Growth delay | Immunodeficiency, common variable, 8 | PMID:28197149 [P1(II.1)] |
105361 | F | 215701![]() |
- | Pakistani | Intrauterine growth retardation | Immunodeficiency 87 | PMID:31308374 [Fam.A:III.3(P2)] |
105400 | M | 215751 | - | Turkish | Growth delay | Immunodeficiency, common variable, 8 | PMID:32219082 [Patient 1] |
105529 | M | 215789 | - | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:27379089 [P7] | |
105533 | M | 215791 | - | Portuguese | short stature | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29225858 [Patient(I.1)] |
105567 | M | 215808 | -,- | Turkish | Delayed puberty,Growth delay | Immunodeficiency, common variable, 8 | PMID:31026575 [P3]; PMID:31432443 [P12] |
105629 | M | 215823 | 4 | Growth delay | Immunodeficiency, common variable, 8 | PMID:34368306 [Patient 1] | |
105647 | M | 215832 | - | Growth delay | Immunodeficiency, common variable, 8 | PMID:34368306 [Patient 3] | |
105657 | F | 215835 | - | short stature | Activated p110-delta syndrome 1 | PMID:27379089 [11] | |
105800 | M | 215882 | - | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33864888 [S112] | |
105907 | M | 215904 | - | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.J:II.1(J.II.1 (32))] |
106069 | F | 215932 | - | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.RR:II.1(RR.II.1 (98))] |
106085 | F | 215941 | - | short stature | 4q24 deletion syndrome | PMID:150198 [Fam.EO:592]; PMID:35784294 [314461] | |
106279 | M | 215977 | - | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.UU:V.2(UU.V.2 (122))]; PMID:29305966 [Fam.IV.2:V.1(V.1)] |
106313 | F | 215982 | - | Caucasian | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [P1] |
106327 | M | 215987![]() |
- | Italian | short stature | NFKB1 insufficiency | PMID:150198 [Fam.FR:III.1(734)]; PMID:37600787 [Fam.1:III.1(index)] |
106330 | F | 215987![]() |
- | Italian | short stature | NFKB1 insufficiency | PMID:150198 [Fam.FR:II.2(733)]; PMID:37600787 [Fam.1:II.2(mother)] |
106577 | F | 216081![]() |
- | Caucasian | Postnatal growth retardation | Adenosine deaminase 2 deficiency | PMID:26867732 [Fam.D:II.2(P6)] |
106595 | F | 216086 | 12 | Growth delay | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:34116213 [Fam.B:P2] | |
106600 | M | 216087![]() |
- | French | Growth delay | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.1:II.2(P3)] |
106604 | M | 216088![]() |
- | Afro-American | Growth delay | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.2:II.4(P7)] |
106622 | M | 216091![]() |
- | Ashkenazi Jewish | Growth delay | Autoinflammation, immune dysregulation, and eosinophilia | PMID:38563820 [Fam.4:II.1(P11)] |
106767 | M | 216125 | 4 | short stature | Combined immunodeficiency 14B | PMID:31449058 [P1(II.1)] | |
106956 | M | 216197 | - | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:30092289 [P12] | |
107095 | M | 216331 | - | Japanese | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P2] |
107096 | F | 216332 | - | Japanese | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:33501615 [P3] |
107212 | F | 216374 | 4 | Arab | short stature | Combined immunodeficiency 37 | PMID:31775018 [Patient] |
107249 | F | 216398![]() |
2 | Argentinian | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:35677041 [Pt7]; PMID:29378236 [Fam.1:Patient 1] |
107252 | M | 216399![]() |
3 | North American | short stature | Infantile-Onset Multisystem Autoimmune Disease 1 | PMID:29378236 [Fam.2:II.2(Patient 2)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).