MRD65
MCID: INT400
MIFTS: 9

Intellectual Developmental Disorder, Autosomal Dominant 65 (MRD65)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Dominant 65

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Dominant 65:

Name: Intellectual Developmental Disorder, Autosomal Dominant 65 57
Mental Retardation, Autosomal Dominant 65 57
Mrd65 57

Classifications:



External Ids:

OMIM® 57 619320
OMIM Phenotypic Series 57 PS156200

Summaries for Intellectual Developmental Disorder, Autosomal Dominant 65

OMIM® : 57 Autosomal dominant intellectual developmental disorder-65 (MRD65) is characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Affected individuals also have dysmorphic facial features. Brain imaging may be normal or may show abnormalities, including cerebellar hypoplasia, poor development of the corpus callosum, dysmorphic hippocampus, and polymicrogyria. Feeding difficulties, hypotonia, and seizures may also be observed (summary by Duncan et al., 2020). (619320) (Updated 20-May-2021)

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Dominant 65, is also known as mental retardation, autosomal dominant 65. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 65 is KDM4B (Lysine Demethylase 4B).

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Dominant 65

Clinical features from OMIM®:

619320 (Updated 20-May-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Dominant 65

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Dominant 65

Genetic Tests for Intellectual Developmental Disorder, Autosomal Dominant 65

Anatomical Context for Intellectual Developmental Disorder, Autosomal Dominant 65

Publications for Intellectual Developmental Disorder, Autosomal Dominant 65

Articles related to Intellectual Developmental Disorder, Autosomal Dominant 65:

# Title Authors PMID Year
1
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects. 57
33232677 2020

Variations for Intellectual Developmental Disorder, Autosomal Dominant 65

Expression for Intellectual Developmental Disorder, Autosomal Dominant 65

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Dominant 65.

Pathways for Intellectual Developmental Disorder, Autosomal Dominant 65

GO Terms for Intellectual Developmental Disorder, Autosomal Dominant 65

Sources for Intellectual Developmental Disorder, Autosomal Dominant 65

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