MRT69
MCID: INT344
MIFTS: 11

Intellectual Developmental Disorder, Autosomal Recessive 69 (MRT69)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Recessive 69

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Recessive 69:

Name: Intellectual Developmental Disorder, Autosomal Recessive 69 58 6
Mental Retardation, Autosomal Recessive 69 58
Mrt69 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two consanguineous middle eastern families have been reported (last curated april 2019)


Classifications:



External Ids:

OMIM 58 618383

Summaries for Intellectual Developmental Disorder, Autosomal Recessive 69

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Recessive 69, is also known as mental retardation, autosomal recessive 69. An important gene associated with Intellectual Developmental Disorder, Autosomal Recessive 69 is ZBTB11 (Zinc Finger And BTB Domain Containing 11).

Description from OMIM: 618383

Related Diseases for Intellectual Developmental Disorder, Autosomal Recessive 69

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Recessive 69

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
dysarthria
developmental delay
enlarged ventricles
ataxia (in some patients)
poor or absent speech
more
Head And Neck Face:
hypotonic facies
maxillary hyperplasia

Head And Neck Mouth:
drooling

Head And Neck Head:
microcephaly, mild (in some patients)

Clinical features from OMIM:

618383

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Recessive 69

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Recessive 69

Genetic Tests for Intellectual Developmental Disorder, Autosomal Recessive 69

Anatomical Context for Intellectual Developmental Disorder, Autosomal Recessive 69

Publications for Intellectual Developmental Disorder, Autosomal Recessive 69

Articles related to Intellectual Developmental Disorder, Autosomal Recessive 69:

# Title Authors Year
1
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans. ( 29893856 )
2018

Variations for Intellectual Developmental Disorder, Autosomal Recessive 69

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Recessive 69:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ZBTB11 NM_014415.3(ZBTB11): c.2185C> T (p.His729Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 101656110: 101656110
2 ZBTB11 NM_014415.3(ZBTB11): c.2185C> T (p.His729Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 101374954: 101374954
3 ZBTB11 NM_014415.3(ZBTB11): c.2640T> G (p.His880Gln) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 101652500: 101652500
4 ZBTB11 NM_014415.3(ZBTB11): c.2640T> G (p.His880Gln) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 101371344: 101371344

Expression for Intellectual Developmental Disorder, Autosomal Recessive 69

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Recessive 69.

Pathways for Intellectual Developmental Disorder, Autosomal Recessive 69

GO Terms for Intellectual Developmental Disorder, Autosomal Recessive 69

Sources for Intellectual Developmental Disorder, Autosomal Recessive 69

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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