MCID: XLN144
MIFTS: 12

X-Linked Intellectual Disability, Seemanova Type

Categories: Neuronal diseases, Rare diseases

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

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

Name: X-Linked Intellectual Disability, Seemanova Type 58

Characteristics:

Orphanet epidemiological data:

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

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for X-Linked Intellectual Disability, Seemanova Type

MalaCards based summary : X-Linked Intellectual Disability, Seemanova Type Affiliated tissues include heart and skeletal muscle, and related phenotypes are hypertelorism and intellectual disability

Related Diseases for X-Linked Intellectual Disability, Seemanova Type

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

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

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
4 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
5 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
6 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
7 skeletal muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003202
8 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
9 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
10 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
11 developmental cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000519
12 progressive spasticity 58 31 frequent (33%) Frequent (79-30%) HP:0002191
13 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
14 hypoplasia of the musculature 58 31 frequent (33%) Frequent (79-30%) HP:0009004
15 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
16 abnormal heart morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001627

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

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

Genetic Tests for X-Linked Intellectual Disability, Seemanova Type

Anatomical Context for X-Linked Intellectual Disability, Seemanova Type

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

40
Heart, Skeletal Muscle

Publications for X-Linked Intellectual Disability, Seemanova Type

Variations for X-Linked Intellectual Disability, Seemanova Type

Expression for X-Linked Intellectual Disability, Seemanova Type

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

Pathways for X-Linked Intellectual Disability, Seemanova Type

GO Terms for X-Linked Intellectual Disability, Seemanova Type

Sources for X-Linked Intellectual Disability, Seemanova 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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