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MCID: XLN112
MIFTS: 13

X-Linked Intellectual Disability, Cilliers Type

Categories: Endocrine diseases, Neuronal diseases, Rare diseases, Reproductive diseases
Tissues Symptoms & Phenotypes
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Aliases & Classifications for X-Linked Intellectual Disability, Cilliers Type

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

Name: X-Linked Intellectual Disability, Cilliers Type 58
X-Linked Intellectual Disability-Microcephaly-Testicular Failure Syndrome 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare endocrine diseases


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Summaries for X-Linked Intellectual Disability, Cilliers Type

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MalaCards based summary : X-Linked Intellectual Disability, Cilliers Type, is also known as x-linked intellectual disability-microcephaly-testicular failure syndrome. Affiliated tissues include eye, and related phenotypes are delayed skeletal maturation and prominent supraorbital ridges

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Related Diseases for X-Linked Intellectual Disability, Cilliers Type

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

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

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 prominent supraorbital ridges 58 31 hallmark (90%) Very frequent (99-80%) HP:0000336
3 macrotia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000400
4 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 failure to thrive 58 31 hallmark (90%) Very frequent (99-80%) HP:0001508
7 intellectual disability, mild 58 31 hallmark (90%) Very frequent (99-80%) HP:0001256
8 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
9 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
10 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
11 deeply set eye 58 31 hallmark (90%) Very frequent (99-80%) HP:0000490
12 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
13 small hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0200055
14 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
15 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
16 small nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001792
17 male hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000026
18 coronal craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004440
19 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
20 decreased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0040171
21 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
22 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
23 psychosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000709
24 paranoia 58 31 occasional (7.5%) Occasional (29-5%) HP:0011999
25 shyness 58 31 occasional (7.5%) Occasional (29-5%) HP:0100962
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Drugs & Therapeutics for X-Linked Intellectual Disability, Cilliers Type

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

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Genetic Tests for X-Linked Intellectual Disability, Cilliers Type

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Anatomical Context for X-Linked Intellectual Disability, Cilliers Type

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

40
Eye
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Publications for X-Linked Intellectual Disability, Cilliers Type

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Variations for X-Linked Intellectual Disability, Cilliers Type

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Expression for X-Linked Intellectual Disability, Cilliers Type

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

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GO Terms for X-Linked Intellectual Disability, Cilliers Type

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Sources for X-Linked Intellectual Disability, Cilliers Type

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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