MRT68
MCID: INT336
MIFTS: 11

Intellectual Developmental Disorder, Autosomal Recessive 68 (MRT68)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 68

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 68:

Name: Intellectual Developmental Disorder, Autosomal Recessive 68 58 6
Mental Retardation, Autosomal Recessive 68 58
Mrt68 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in infancy
some patients have no motor involvement


Classifications:



External Ids:

OMIM 58 618302

Summaries for Intellectual Developmental Disorder, Autosomal Recessive 68

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 68, is also known as mental retardation, autosomal recessive 68. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 68 is TRMT1 (TRNA Methyltransferase 1).

Description from OMIM: 618302

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 68

Diseases in the Intellectual Developmental Disorder, Autosomal Recessive 67 family:

Intellectual Developmental Disorder, Autosomal Recessive 68

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 68

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
global developmental delay
seizures (in some patients)
speech delay
delayed walking
cerebellar atrophy (in some patients)
more
Head And Neck Nose:
broad nasal bridge

Growth Weight:
low birth weight

Muscle Soft Tissue:
hypotonia (in some patients)
muscle weakness, lower limbs (in some patients)

Head And Neck Head:
microcephaly, congenital, progressive (-4.5 sd) (in some patients)

Head And Neck Eyes:
synophrys
narrow palpebral fissures
broad eyebrows

Head And Neck Face:
hypoplastic maxilla
dysmorphic facial features, mild, variable (in some patients)

Growth Other:
poor overall growth

Skeletal Feet:
pes planus (in some patients)

Clinical features from OMIM:

618302

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 68

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Recessive 68

Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 68

Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 68

Publications for Intellectual Developmental Disorder, Autosomal Recessive 68

Variations for Intellectual Developmental Disorder, Autosomal Recessive 68

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 68:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TRMT1 NM_001136035.3(TRMT1): c.657_688del (p.Gln219Hisfs) deletion Pathogenic GRCh38 Chromosome 19, 13112965: 13112996
2 TRMT1 NM_001136035.3(TRMT1): c.657_688del (p.Gln219Hisfs) deletion Pathogenic GRCh37 Chromosome 19, 13223779: 13223810
3 TRMT1 NM_001136035.3(TRMT1): c.1506+1G> T single nucleotide variant Pathogenic GRCh38 Chromosome 19, 13107750: 13107750
4 TRMT1 NM_001136035.3(TRMT1): c.1506+1G> T single nucleotide variant Pathogenic GRCh37 Chromosome 19, 13218564: 13218564
5 TRMT1 NM_001136035.3(TRMT1): c.1332_1333delGT (p.Tyr445Leufs) deletion Pathogenic GRCh38 Chromosome 19, 13109445: 13109446
6 TRMT1 NM_001136035.3(TRMT1): c.1332_1333delGT (p.Tyr445Leufs) deletion Pathogenic GRCh37 Chromosome 19, 13220259: 13220260

Expression for Intellectual Developmental Disorder, Autosomal Recessive 68

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 68.

Pathways for Intellectual Developmental Disorder, Autosomal Recessive 68

GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 68

Sources for Intellectual Developmental Disorder, Autosomal Recessive 68

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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35 ICD10 via Orphanet
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50 NCI
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58 OMIM
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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