MCID: XLN128
MIFTS: 13

X-Linked Intellectual Disability, Abidi Type

Categories: Ear diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for X-Linked Intellectual Disability, Abidi Type

MalaCards integrated aliases for X-Linked Intellectual Disability, Abidi Type:

Name: X-Linked Intellectual Disability, Abidi Type 52
Short Stature, Small Head Circumference, Sloping Forehead, Hearing Loss, Cupped Ears and Small Testes 52
Intellectual Disability X-Linked Abidi Type 52
Abidi X-Linked Mental Retardation Syndrome 71
Mrxsab 52

Classifications:



Summaries for X-Linked Intellectual Disability, Abidi Type

MalaCards based summary : X-Linked Intellectual Disability, Abidi Type, also known as short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes, is related to syndromic x-linked intellectual disability abidi type and abidi x-linked mental retardation syndrome. Affiliated tissues include testes, and related phenotypes are intellectual disability and short stature

Related Diseases for X-Linked Intellectual Disability, Abidi Type

Diseases related to X-Linked Intellectual Disability, Abidi Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 syndromic x-linked intellectual disability abidi type 12.7
2 abidi x-linked mental retardation syndrome 11.7

Symptoms & Phenotypes for X-Linked Intellectual Disability, Abidi Type

Human phenotypes related to X-Linked Intellectual Disability, Abidi Type:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 short stature 31 hallmark (90%) HP:0004322
3 microcephaly 31 hallmark (90%) HP:0000252
4 sloping forehead 31 hallmark (90%) HP:0000340
5 decreased testicular size 31 hallmark (90%) HP:0008734
6 hearing impairment 31 frequent (33%) HP:0000365
7 pectus excavatum 31 occasional (7.5%) HP:0000767
8 scoliosis 31 occasional (7.5%) HP:0002650
9 cleft palate 31 occasional (7.5%) HP:0000175
10 protruding ear 31 occasional (7.5%) HP:0000411
11 prominent nasal bridge 31 occasional (7.5%) HP:0000426
12 non-midline cleft lip 31 occasional (7.5%) HP:0100335

Drugs & Therapeutics for X-Linked Intellectual Disability, Abidi Type

Search Clinical Trials , NIH Clinical Center for X-Linked Intellectual Disability, Abidi Type

Genetic Tests for X-Linked Intellectual Disability, Abidi Type

Anatomical Context for X-Linked Intellectual Disability, Abidi Type

MalaCards organs/tissues related to X-Linked Intellectual Disability, Abidi Type:

40
Testes

Publications for X-Linked Intellectual Disability, Abidi Type

Variations for X-Linked Intellectual Disability, Abidi Type

Expression for X-Linked Intellectual Disability, Abidi Type

Search GEO for disease gene expression data for X-Linked Intellectual Disability, Abidi Type.

Pathways for X-Linked Intellectual Disability, Abidi Type

GO Terms for X-Linked Intellectual Disability, Abidi Type

Sources for X-Linked Intellectual Disability, Abidi Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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