MRT23
MCID: MNT170
MIFTS: 14

Mental Retardation, Autosomal Recessive 23 (MRT23)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mental Retardation, Autosomal Recessive 23

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 23:

Name: Mental Retardation, Autosomal Recessive 23 57 13 72
Mrt23 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on a report of 1 consanguineous syrian family (last curated november 2011)


HPO:

32
mental retardation, autosomal recessive 23:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

MedGen 42 C3280542
UMLS 72 C3280542

Summaries for Mental Retardation, Autosomal Recessive 23

MalaCards based summary : Mental Retardation, Autosomal Recessive 23, also known as mrt23, is related to autosomal recessive non-syndromic intellectual disability. An important gene associated with Mental Retardation, Autosomal Recessive 23 is MRT23 (Mental Retardation, Non-Syndromic, Autosomal Recessive, 23). Related phenotypes are intellectual disability, severe and motor delay

More information from OMIM: 614344 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 23

Diseases in the Mental Retardation, Autosomal Dominant 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 37 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 38 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 41
Mental Retardation, Autosomal Dominant 23 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 43 Mental Retardation, Autosomal Dominant 24
Mental Retardation, Autosomal Dominant 26 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56 Mental Retardation, Autosomal Dominant 57
Mental Retardation, Autosomal Recessive 63 Mental Retardation, Autosomal Recessive 64
Mental Retardation, Autosomal Dominant 58 Mental Retardation, Autosomal Recessive 65
Mental Retardation, Autosomal Recessive 66 Autosomal Dominant Mental Retardation 55

Diseases related to Mental Retardation, Autosomal Recessive 23 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal recessive non-syndromic intellectual disability 11.3

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 23

Human phenotypes related to Mental Retardation, Autosomal Recessive 23:

32
# Description HPO Frequency HPO Source Accession
1 intellectual disability, severe 32 HP:0010864
2 motor delay 32 HP:0001270

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability, severe
no speech
motor delay, moderate
hypertonia of upper extremities (in one patient)
unremarkable ct scan

Muscle Soft Tissue:
neonatal muscular hypotonia

Clinical features from OMIM:

614344

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 23

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 23

Genetic Tests for Mental Retardation, Autosomal Recessive 23

Anatomical Context for Mental Retardation, Autosomal Recessive 23

Publications for Mental Retardation, Autosomal Recessive 23

Articles related to Mental Retardation, Autosomal Recessive 23:

# Title Authors PMID Year
1
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. 38 8
21629298 2011

Variations for Mental Retardation, Autosomal Recessive 23

Expression for Mental Retardation, Autosomal Recessive 23

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 23.

Pathways for Mental Retardation, Autosomal Recessive 23

GO Terms for Mental Retardation, Autosomal Recessive 23

Sources for Mental Retardation, Autosomal Recessive 23

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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