MRT66
MCID: MNT339
MIFTS: 20

Mental Retardation, Autosomal Recessive 66 (MRT66)

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 66

MalaCards integrated aliases for Mental Retardation, Autosomal Recessive 66:

Name: Mental Retardation, Autosomal Recessive 66 58 6
Mrt66 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
mental retardation, autosomal recessive 66:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mental Retardation, Autosomal Recessive 66

OMIM : 58 MRT66 is a nonsyndromic autosomal recessive intellectual developmental disorder with delayed speech development, neuropsychiatric symptoms, and relatively normal life span (Philips et al., 2017). (618221)

MalaCards based summary : Mental Retardation, Autosomal Recessive 66, is also known as mrt66. An important gene associated with Mental Retardation, Autosomal Recessive 66 is C12orf4 (Chromosome 12 Open Reading Frame 4). Related phenotypes are intellectual disability and muscular hypotonia

Related Diseases for Mental Retardation, Autosomal Recessive 66

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 Dominant 27
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

Symptoms & Phenotypes for Mental Retardation, Autosomal Recessive 66

Human phenotypes related to Mental Retardation, Autosomal Recessive 66:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 very rare (1%) HP:0001249
2 muscular hypotonia 33 very rare (1%) HP:0001252
3 global developmental delay 33 very rare (1%) HP:0001263
4 delayed speech and language development 33 very rare (1%) HP:0000750
5 abnormal facial shape 33 very rare (1%) HP:0001999
6 epicanthus 33 very rare (1%) HP:0000286
7 attention deficit hyperactivity disorder 33 very rare (1%) HP:0007018
8 gait ataxia 33 very rare (1%) HP:0002066
9 joint laxity 33 very rare (1%) HP:0001388
10 shyness 33 very rare (1%) HP:0100962
11 aggressive behavior 33 very rare (1%) HP:0000718
12 autistic behavior 33 very rare (1%) HP:0000729

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hypotonia
delayed speech
autism spectrum disorder (in some patients)
abnormal gait (in some patients)
intellectual developmental deficit, mild to moderate

Skeletal:
joint hyperlaxity, mild

Head And Neck Face:
dysmorphic facies, mild

Clinical features from OMIM:

618221

Drugs & Therapeutics for Mental Retardation, Autosomal Recessive 66

Search Clinical Trials , NIH Clinical Center for Mental Retardation, Autosomal Recessive 66

Genetic Tests for Mental Retardation, Autosomal Recessive 66

Anatomical Context for Mental Retardation, Autosomal Recessive 66

Publications for Mental Retardation, Autosomal Recessive 66

Variations for Mental Retardation, Autosomal Recessive 66

ClinVar genetic disease variations for Mental Retardation, Autosomal Recessive 66:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C12orf4 NM_020374.4(C12orf4): c.639_640insACAA (p.Gln214Thrfs) insertion Pathogenic/Likely pathogenic rs730882197 GRCh38 Chromosome 12, 4525342: 4525343
2 C12orf4 NM_020374.4(C12orf4): c.639_640insACAA (p.Gln214Thrfs) insertion Pathogenic/Likely pathogenic rs730882197 GRCh37 Chromosome 12, 4634508: 4634509
3 C12orf4 NM_020374.4(C12orf4): c.983T> C (p.Leu328Pro) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 4627274: 4627274
4 C12orf4 NM_020374.4(C12orf4): c.983T> C (p.Leu328Pro) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 4518108: 4518108
5 C12orf4 NM_020374.4(C12orf4): c.1360C> T (p.Arg454Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 12, 4609384: 4609384
6 C12orf4 NM_020374.4(C12orf4): c.1360C> T (p.Arg454Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 12, 4500218: 4500218

Expression for Mental Retardation, Autosomal Recessive 66

Search GEO for disease gene expression data for Mental Retardation, Autosomal Recessive 66.

Pathways for Mental Retardation, Autosomal Recessive 66

GO Terms for Mental Retardation, Autosomal Recessive 66

Sources for Mental Retardation, Autosomal Recessive 66

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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45 MeSH
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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