MRT33
MCID: MNT180
MIFTS: 15

Mental Retardation, Autosomal Recessive 33 (MRT33)

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

Aliases & Classifications for Mental Retardation, Autosomal Recessive 33

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 33:

Name: Mental Retardation, Autosomal Recessive 33 57 13 70
Mrt33 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one consanguineous 4-generation iranian family has been reported


HPO:

31
mental retardation, autosomal recessive 33:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614341
OMIM Phenotypic Series 57 PS249500
MedGen 41 C3280539
UMLS 70 C3280539

Summaries for Mental Retardation, Autosomal Recessive 33

MalaCards based summary : Mental Retardation, Autosomal Recessive 33, is also known as mrt33. An important gene associated with Mental Retardation, Autosomal Recessive 33 is MRT33 (Mental Retardation, Autosomal Recessive 33). Related phenotypes are abnormal facial shape and short toe

More information from OMIM: 614341 PS249500

Related Diseases for Mental Retardation, Autosomal Recessive 33

Diseases in the Mental Retardation, Autosomal Dominant 7 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Dominant 20
Mental Retardation, Autosomal Recessive 14 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 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 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 Recessive 48
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 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 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

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 33

Human phenotypes related to Mental Retardation, Autosomal Recessive 33:

31
# Description HPO Frequency HPO Source Accession
1 abnormal facial shape 31 HP:0001999
2 short toe 31 HP:0001831
3 intellectual disability, moderate 31 HP:0002342
4 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal Hands:
syndactyly

Skeletal Feet:
short toes

Head And Neck Face:
facial dysmorphism

Neurologic Central Nervous System:
mental retardation, moderate

Clinical features from OMIM®:

614341 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 33

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 33

Genetic Tests for Mental Retardation, Autosomal Recessive 33

Anatomical Context for Mental Retardation, Autosomal Recessive 33

Publications for Mental Retardation, Autosomal Recessive 33

Articles related to Mental Retardation, Autosomal Recessive 33:

# Title Authors PMID Year
1
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 57
21937992 2011
2
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 57
21063731 2011

Variations for Mental Retardation, Autosomal Recessive 33

Expression for Mental Retardation, Autosomal Recessive 33

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 33.

Pathways for Mental Retardation, Autosomal Recessive 33

GO Terms for Mental Retardation, Autosomal Recessive 33

Sources for Mental Retardation, Autosomal Recessive 33

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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