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

Reported patients added to GenIA DB

SubjectID Sex Fam.ID Age* Population MatchedTerm Diagnosis Reference & Pub.codes
101884 M 212237tree icon - Sudanese Intellectual disability Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.A:III.3(A.II.3)]
101962 M 212237tree icon - Sudanese Intellectual disability Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.A:III.2(A.II.2)]
101975 F 214053tree icon - 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 214351tree icon - Sudanese Intellectual disability Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.B:IV.5(B.II.4)]
102129 F 214351tree icon - Sudanese Intellectual disability Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.B:IV.1(B.II.1)]
102133 M 214352tree icon - Sudanese Intellectual disability Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.C:II.1(C.II.1)]
102134 M 214352tree icon - Sudanese Intellectual disability Hyper-IgE recurrent infection syndrome 3 PMID:29907690 [Fam.C:II.6(C.II.6)]
102313 M 214935tree icon - Turkish Intellectual disability Otofaciocervical syndrome 2 PMID:23851939 [V-2(V.2)]
102353 M 214936tree icon - Indian Intellectual disability Otofaciocervical syndrome 2 PMID:29681087 [P1(II.1)]
102356 F 214936tree icon - 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 215095tree icon - Finnish Intellectual disability, profound Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F1:II.7(P1)]
103061 M 215095tree icon - Finnish Intellectual disability, profound Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F1:II.9(P2)]
103062 M 215096tree icon - Finnish Intellectual disability, profound Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F2:II.2(P3)]
103067 F 215097tree icon - Finnish Intellectual disability, profound Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F3:II.3(P4)]
103072 F 215098tree icon - Finnish Intellectual disability, profound Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F4:II.1(P5)]
103076 F 215099tree icon 0 Omani Intellectual disability, profound Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.5(P6)]
103110 M 215099tree icon - Omani Intellectual disability, profound Seizures, cortical blindness, microcephaly syndrome PMID:33662367 [Fam.F5:V.2(P7)]
103116 F 215101tree icon - Saudi Intellectual disability Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [P1(IV.4)]
103128 F 215101tree icon - Saudi Intellectual disability Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.5]
103129 F 215101tree icon - Saudi Intellectual disability Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.6]
103131 M 215101tree icon - Saudi Intellectual disability Seizures, cortical blindness, microcephaly syndrome PMID:24781755 [Fam.P1:IV.8]
103859 M 215263tree icon - Turkish Intellectual disability Adenosine deaminase 2 deficiency PMID:24552284 [Fam.8:II.1(P9)]; PMID:26233953 [Fam.F4:P5]
104698 M 215571tree icon - Iranian Intellectual disability Cohen syndrome PMID:37382373 [Fam.1:V.1]
104709 F 215571tree icon - Iranian Intellectual disability Cohen syndrome PMID:37382373 [Fam.1:VI.1]
104710 M 215571tree icon - 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 216101tree icon - Syrian Intellectual disability Intellectual disability due to EZR deficiency PMID:25504542 [Fam.MR037:IV.1(IV-1)]
106667 M 216101tree icon - 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).