MCID: SYN091
MIFTS: 7

Syndromic X-Linked Intellectual Disability Nascimento Type

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Syndromic X-Linked Intellectual Disability Nascimento Type

MalaCards integrated aliases for Syndromic X-Linked Intellectual Disability Nascimento Type:

Name: Syndromic X-Linked Intellectual Disability Nascimento Type 12
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome 12
Mental Retardation, X-Linked Syndromic, Nascimento-Type 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060820
ICD10 32 Q87.8

Summaries for Syndromic X-Linked Intellectual Disability Nascimento Type

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has material basis in mutation in the UBE2A gene on chromosome Xq24.

MalaCards based summary : Syndromic X-Linked Intellectual Disability Nascimento Type, also known as x-linked intellectual disability-nail dystrophy-seizures syndrome, is related to mental retardation, x-linked, syndromic, nascimento type. Affiliated tissues include eye.

Related Diseases for Syndromic X-Linked Intellectual Disability Nascimento Type

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

# Related Disease Score Top Affiliating Genes
1 mental retardation, x-linked, syndromic, nascimento type 11.7

Symptoms & Phenotypes for Syndromic X-Linked Intellectual Disability Nascimento Type

Drugs & Therapeutics for Syndromic X-Linked Intellectual Disability Nascimento Type

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

Genetic Tests for Syndromic X-Linked Intellectual Disability Nascimento Type

Anatomical Context for Syndromic X-Linked Intellectual Disability Nascimento Type

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

40
Eye

Publications for Syndromic X-Linked Intellectual Disability Nascimento Type

Variations for Syndromic X-Linked Intellectual Disability Nascimento Type

Expression for Syndromic X-Linked Intellectual Disability Nascimento Type

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

Pathways for Syndromic X-Linked Intellectual Disability Nascimento Type

GO Terms for Syndromic X-Linked Intellectual Disability Nascimento Type

Sources for Syndromic X-Linked Intellectual Disability Nascimento 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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