MCID: SYN091
MIFTS: 6

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.

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 12.1

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

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....