MCID: MNT202
MIFTS: 15

Mental Retardation, X-Linked 53

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

Aliases & Classifications for Mental Retardation, X-Linked 53

MalaCards integrated aliases for Mental Retardation, X-Linked 53:

Name: Mental Retardation, X-Linked 53 57 73
Mental Retardation, X-Linked-53 13
Mrx53 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
based on a report of 8 affected males in one pakistani family


HPO:

32
mental retardation, x-linked 53:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300324
MedGen 42 C1845889
SNOMED-CT via HPO 69 228156007 247578003 91138005
UMLS 73 C1845889

Summaries for Mental Retardation, X-Linked 53

MalaCards based summary : Mental Retardation, X-Linked 53, also known as mental retardation, x-linked-53, is related to autism x-linked 2. An important gene associated with Mental Retardation, X-Linked 53 is MRX53 (Mental Retardation, X-Linked 53). Related phenotype is intellectual disability.

Description from OMIM: 300324

Related Diseases for Mental Retardation, X-Linked 53

Symptoms & Phenotypes for Mental Retardation, X-Linked 53

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
mental retardation (iq between 45-50)
normal gross motor development


Clinical features from OMIM:

300324

Human phenotypes related to Mental Retardation, X-Linked 53:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249

Drugs & Therapeutics for Mental Retardation, X-Linked 53

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 53

Genetic Tests for Mental Retardation, X-Linked 53

Anatomical Context for Mental Retardation, X-Linked 53

Publications for Mental Retardation, X-Linked 53

Variations for Mental Retardation, X-Linked 53

Expression for Mental Retardation, X-Linked 53

Search GEO for disease gene expression data for Mental Retardation, X-Linked 53.

Pathways for Mental Retardation, X-Linked 53

GO Terms for Mental Retardation, X-Linked 53

Sources for Mental Retardation, X-Linked 53

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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