short stature
Basic details
Preferred term: short stature
Alt. terms: Decreased body height | Small stature
HPO term: Short stature
HPO code: HP:0004322
GenIA ID: 263
Last updated on: 2024-10-23 14:30:18
Cross ref. with other ontologies
NCIT: C118686
MESH: -
EFO: -
OAE: -
SNOMEDCT: -
ICD10: -
Description
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to short stature as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Hierarchical classification
PARENT terms
TERM
short stature
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] | |
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] |
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)] |
101651 | M | 210939 | 28 | Disproportionate short stature | PMID:34975878 [Fam.F226:P226] | ||
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] |
102417 | F | 214946![]() |
0 | Dutch | short stature | Stuve-Wiedemann syndrome 2 | PMID:31914175 [Fam.C:II.3] |
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)] |
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)] |
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 | 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 | 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)] | |
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)] |
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] |
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)] |
105028 | F | 215627 | - | French | 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![]() |
6 | 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)] |
105355 | M | 215717 | 6 | Caucasian | Growth delay | Immunodeficiency, common variable, 8 | PMID:28197149 [P1(II.1)] |
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 | 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)] |
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![]() |
2,0 | Argentinian | Birth length less than 3rd percentile,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).