MCID: MNT247
MIFTS: 16

Mental Retardation, X-Linked 73

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

Aliases & Classifications for Mental Retardation, X-Linked 73

MalaCards integrated aliases for Mental Retardation, X-Linked 73:

Name: Mental Retardation, X-Linked 73 57 73
Mrx73 57

Characteristics:

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
one 4-generation family with 5 affected males has been reported (last curated may 2016)


HPO:

32
mental retardation, x-linked 73:
Inheritance x-linked inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 300355
MedGen 42 C1845860
SNOMED-CT via HPO 69 253207002 86765009 263934009
UMLS 73 C1845860

Summaries for Mental Retardation, X-Linked 73

MalaCards based summary : Mental Retardation, X-Linked 73, also known as mrx73, is related to autism x-linked 2. An important gene associated with Mental Retardation, X-Linked 73 is MRX73 (Mental Retardation, X-Linked 73). Affiliated tissues include brain, and related phenotypes are intellectual disability, mild and synophrys

Description from OMIM: 300355

Related Diseases for Mental Retardation, X-Linked 73

Symptoms & Phenotypes for Mental Retardation, X-Linked 73

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
synophrys, mild

Neurologic Behavioral Psychiatric Manifestations:
outgoing personality without autistic traits

Neurologic Central Nervous System:
mental retardation, mild to moderate
normal brain ct


Clinical features from OMIM:

300355

Human phenotypes related to Mental Retardation, X-Linked 73:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 32 HP:0001256
2 synophrys 32 HP:0000664

Drugs & Therapeutics for Mental Retardation, X-Linked 73

Search Clinical Trials , NIH Clinical Center for Mental Retardation, X-Linked 73

Genetic Tests for Mental Retardation, X-Linked 73

Anatomical Context for Mental Retardation, X-Linked 73

MalaCards organs/tissues related to Mental Retardation, X-Linked 73:

41
Brain

Publications for Mental Retardation, X-Linked 73

Variations for Mental Retardation, X-Linked 73

Expression for Mental Retardation, X-Linked 73

Search GEO for disease gene expression data for Mental Retardation, X-Linked 73.

Pathways for Mental Retardation, X-Linked 73

GO Terms for Mental Retardation, X-Linked 73

Sources for Mental Retardation, X-Linked 73

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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