MCID: SYN077
MIFTS: 15

Syndromic X-Linked Intellectual Disability 12

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Syndromic X-Linked Intellectual Disability 12

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability 12:

Name: Syndromic X-Linked Intellectual Disability 12 12
X-Linked Intellectual Disability, Wilson Type 12 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability, wilson type
Inheritance: X-linked dominant,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Syndromic X-Linked Intellectual Disability 12

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has material basis in variation in the chromosome region Xp11.

MalaCards based summary : Syndromic X-Linked Intellectual Disability 12, is also known as x-linked intellectual disability, wilson type. Affiliated tissues include testis, and related phenotypes are mandibular prognathia and thick vermilion border

Related Diseases for Syndromic X-Linked Intellectual Disability 12

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability 12

Human phenotypes related to Syndromic X-Linked Intellectual Disability 12:

58 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
2 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
3 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
4 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
5 growth delay 58 31 frequent (33%) Frequent (79-30%) HP:0001510
6 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
7 recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0002719
8 mutism 58 31 frequent (33%) Frequent (79-30%) HP:0002300
9 square face 58 31 frequent (33%) Frequent (79-30%) HP:0000321
10 abnormal position of hair whorl 58 31 frequent (33%) Frequent (79-30%) HP:0010814
11 seizure 31 frequent (33%) HP:0001250
12 inguinal hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000023
13 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
14 hydrocele testis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000034
15 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
16 dilation of lateral ventricles 58 31 occasional (7.5%) Occasional (29-5%) HP:0006956
17 seizures 58 Frequent (79-30%)

Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability 12

Search Clinical Trials , NIH Clinical Center for Syndromic X-Linked Intellectual Disability 12

Genetic Tests for Syndromic X-Linked Intellectual Disability 12

Anatomical Context for Syndromic X-Linked Intellectual Disability 12

MalaCards organs/tissues related to Syndromic X-Linked Intellectual Disability 12:

40
Testis

Publications for Syndromic X-Linked Intellectual Disability 12

Variations for Syndromic X-Linked Intellectual Disability 12

Expression for Syndromic X-Linked Intellectual Disability 12

Search GEO for disease gene expression data for Syndromic X-Linked Intellectual Disability 12.

Pathways for Syndromic X-Linked Intellectual Disability 12

GO Terms for Syndromic X-Linked Intellectual Disability 12

Sources for Syndromic X-Linked Intellectual Disability 12

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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