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MRT19
MCID: MNT182
MIFTS: 14

Mental Retardation, Autosomal Recessive 19 (MRT19)

Categories: Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases
Genes Publications Symptoms & Phenotypes
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Aliases & Classifications for Mental Retardation, Autosomal Recessive 19

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MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 19:

Name: Mental Retardation, Autosomal Recessive 19 57 13 71
Mrt19 57

Characteristics:

OMIM®:

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

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


HPO:

31
mental retardation, autosomal recessive 19:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases Gastrointestinal diseases Ear diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 614343
MedGen 41 C3280541
SNOMED-CT via HPO 68 229844004 258211005 61152003
UMLS 71 C3280541
Sources

Summaries for Mental Retardation, Autosomal Recessive 19

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MalaCards based summary : Mental Retardation, Autosomal Recessive 19, is also known as mrt19. An important gene associated with Mental Retardation, Autosomal Recessive 19 is MRT19 (Mental Retardation, Non-Syndromic, Autosomal Recessive, 19). Related phenotypes are abnormal foot morphology and motor delay

More information from OMIM: 614343
Sources

Related Diseases for Mental Retardation, Autosomal Recessive 19

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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

Sources

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 19

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Human phenotypes related to Mental Retardation, Autosomal Recessive 19:

31
# Description HPO Frequency HPO Source Accession
1 abnormal foot morphology 31 occasional (7.5%) HP:0001760
2 motor delay 31 HP:0001270
3 intellectual disability, moderate 31 HP:0002342

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability, moderate
motor delay, mild
no speech delay

Skeletal:
arthrogryposis of several small joints

Neurologic Behavioral Psychiatric Manifestations:
cheerful disposition
amicable disposition

Skeletal Feet:
foot deformity (in some patients)

Clinical features from OMIM®:

614343 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 19

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Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 19

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Genetic Tests for Mental Retardation, Autosomal Recessive 19

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Anatomical Context for Mental Retardation, Autosomal Recessive 19

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Publications for Mental Retardation, Autosomal Recessive 19

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Articles related to Mental Retardation, Autosomal Recessive 19:

# Title Authors PMID Year
1
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. 61 57
21629298 2011
Sources

Variations for Mental Retardation, Autosomal Recessive 19

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Expression for Mental Retardation, Autosomal Recessive 19

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Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 19.
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Pathways for Mental Retardation, Autosomal Recessive 19

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GO Terms for Mental Retardation, Autosomal Recessive 19

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Sources for Mental Retardation, Autosomal Recessive 19

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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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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