Intellectual disability
Basic details
Preferred term: Intellectual disability
Alt. terms: Dull intelligence | Low intelligence | Mental deficiency | Mental retardation | Mental-retardation
HPO term: Intellectual disability
HPO code: HP:0001249
GenIA ID: 203
Last updated on: 2021-12-10 17:55:48
Cross ref. with other ontologies
NCIT: C97250
MESH: D008607
EFO: -
OAE: -
SNOMEDCT: -
ICD10: F79
Description
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Hierarchical classification
TERM
Intellectual disability
Reported patients added to GenIA DB
SubjectID | Sex | Fam.ID | Age* | Population | MatchedTerm | Diagnosis | Reference & Pub.codes |
---|---|---|---|---|---|---|---|
101884 | M | 212237![]() |
- | Sudanese | Intellectual disability | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.3(A.II.3)] |
101962 | M | 212237![]() |
- | Sudanese | Intellectual disability | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.A:III.2(A.II.2)] |
101975 | F | 214053![]() |
- | Turkish | Intellectual disability | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.D:IV.2(D.II.1)]; PMID:34390440 [HIES53]; PMID:31980991 [Case] |
102124 | F | 214351![]() |
- | Sudanese | Intellectual disability | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.5(B.II.4)] |
102129 | F | 214351![]() |
- | Sudanese | Intellectual disability | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.B:IV.1(B.II.1)] |
102133 | M | 214352![]() |
- | Sudanese | Intellectual disability | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.1(C.II.1)] |
102134 | M | 214352![]() |
- | Sudanese | Intellectual disability | Hyper-IgE recurrent infection syndrome 3 | PMID:29907690 [Fam.C:II.6(C.II.6)] |
102313 | M | 214935![]() |
- | Turkish | Intellectual disability | Otofaciocervical syndrome 2 | PMID:23851939 [V-2(V.2)] |
102353 | M | 214936![]() |
- | Indian | Intellectual disability | Otofaciocervical syndrome 2 | PMID:29681087 [P1(II.1)] |
102356 | F | 214936![]() |
- | Indian | Intellectual disability | Otofaciocervical syndrome 2 | PMID:29681087 [Fam.P1:II.2(P2)] |
102950 | M | 215049 | - | Italian | Intellectual disability | T-cell lymphopenia with or without nail dystrophy, AD | PMID:31447097 [P41]; PMID:37419334 [P41(22)] |
103051 | M | 215095![]() |
- | Finnish | Intellectual disability, profound | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.7(P1)] |
103061 | M | 215095![]() |
- | Finnish | Intellectual disability, profound | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F1:II.9(P2)] |
103062 | M | 215096![]() |
- | Finnish | Intellectual disability, profound | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F2:II.2(P3)] |
103067 | F | 215097![]() |
- | Finnish | Intellectual disability, profound | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F3:II.3(P4)] |
103072 | F | 215098![]() |
- | Finnish | Intellectual disability, profound | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F4:II.1(P5)] |
103076 | F | 215099![]() |
0 | Omani | Intellectual disability, profound | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.5(P6)] |
103110 | M | 215099![]() |
- | Omani | Intellectual disability, profound | Seizures, cortical blindness, microcephaly syndrome | PMID:33662367 [Fam.F5:V.2(P7)] |
103116 | F | 215101![]() |
- | Saudi | Intellectual disability | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [P1(IV.4)] |
103128 | F | 215101![]() |
- | Saudi | Intellectual disability | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.5] |
103129 | F | 215101![]() |
- | Saudi | Intellectual disability | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.6] |
103131 | M | 215101![]() |
- | Saudi | Intellectual disability | Seizures, cortical blindness, microcephaly syndrome | PMID:24781755 [Fam.P1:IV.8] |
103859 | M | 215263![]() |
- | Turkish | Intellectual disability | Adenosine deaminase 2 deficiency | PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5] |
104698 | M | 215571![]() |
- | Iranian | Intellectual disability | Cohen syndrome | PMID:37382373 [Fam.1:V.1] |
104709 | F | 215571![]() |
- | Iranian | Intellectual disability | Cohen syndrome | PMID:37382373 [Fam.1:VI.1] |
104710 | M | 215571![]() |
- | Iranian | Intellectual disability | Cohen syndrome | PMID:37382373 [Fam.1:VI.2] |
105261 | F | 215680 | - | Egyptian | Intellectual disability | Otofaciocervical syndrome 2 | PMID:37924468 [Patient(III.1)] |
106047 | F | 215930 | - | Caucasian | Intellectual disability | CTLA4 haploinsufficiency with autoimmune infiltration | PMID:29729943 [Fam.LL:II.1(LL.II.1 (86))] |
106079 | M | 215935 | - | Intellectual disability | 4q24 deletion syndrome | PMID:150198 [Fam.EI:586]; PMID:35784294 [1580] | |
106080 | F | 215936 | - | Intellectual disability | 4q24 deletion syndrome | PMID:150198 [Fam.EJ:587]; PMID:35784294 [249234] | |
106082 | F | 215938 | - | Intellectual disability | 4q24 deletion syndrome | PMID:150198 [Fam.EL:589]; PMID:35784294 [263047] | |
106654 | M | 216101![]() |
- | Syrian | Intellectual disability | Intellectual disability due to EZR deficiency | PMID:25504542 [Fam.MR037:IV.1(IV-1)] |
106667 | M | 216101![]() |
- | Syrian | Intellectual disability | Intellectual disability due to EZR deficiency | PMID:25504542 [Fam.MR037:IV.3(IV-3)] |
106767 | M | 216125 | 4 | Intellectual disability, severe | Combined immunodeficiency 14B | PMID:31449058 [P1(II.1)] |
*Age: age reported at the first known time of manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).