MCID: MNT194
MIFTS: 14

Mental Retardation, X-Linked 50

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

Aliases & Classifications for Mental Retardation, X-Linked 50

MalaCards integrated aliases for Mental Retardation, X-Linked 50:

Name: Mental Retardation, X-Linked 50 57 73
Mrx50 57

Characteristics:

OMIM:

57
Inheritance:
x-linked

Miscellaneous:
one family with 4 affected males reported (last curated september 2016)
carrier females mildly affected


HPO:

32
mental retardation, x-linked 50:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300115
MedGen 42 C1848087
SNOMED-CT via HPO 69 86765009 263934009
UMLS 73 C1848087

Summaries for Mental Retardation, X-Linked 50

MalaCards based summary : Mental Retardation, X-Linked 50, also known as mrx50, is related to autism x-linked 2. An important gene associated with Mental Retardation, X-Linked 50 is MRX50 (Mental Retardation, X-Linked 50). Related phenotype is intellectual disability, mild.

Description from OMIM: 300115

Related Diseases for Mental Retardation, X-Linked 50

Symptoms & Phenotypes for Mental Retardation, X-Linked 50

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
adult height 3rd-25th centile

Neurologic Central Nervous System:
mental retardation, moderate to severe

Head And Neck Head:
occipitofrontal head circumference 75th-97th centile


Clinical features from OMIM:

300115

Human phenotypes related to Mental Retardation, X-Linked 50:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 32 HP:0001256

Drugs & Therapeutics for Mental Retardation, X-Linked 50

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 50

Genetic Tests for Mental Retardation, X-Linked 50

Anatomical Context for Mental Retardation, X-Linked 50

Publications for Mental Retardation, X-Linked 50

Variations for Mental Retardation, X-Linked 50

Expression for Mental Retardation, X-Linked 50

Search GEO for disease gene expression data for Mental Retardation, X-Linked 50.

Pathways for Mental Retardation, X-Linked 50

GO Terms for Mental Retardation, X-Linked 50

Sources for Mental Retardation, X-Linked 50

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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