MIGSB
MCID: MCR371
MIFTS: 8

Microcephaly, Growth Deficiency, Seizures, and Brain Malformations (MIGSB)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Microcephaly, Growth Deficiency, Seizures, and Brain...

MalaCards integrated aliases for Microcephaly, Growth Deficiency, Seizures, and Brain Malformations:

Name: Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 58 6
Migsb 58

Classifications:



External Ids:

OMIM 58 618346

Summaries for Microcephaly, Growth Deficiency, Seizures, and Brain...

OMIM : 58 Microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) is a severe autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Additional features include optic atrophy, early-onset seizures, dysmorphic facial features, and brain malformations, such as partial agenesis of the corpus callosum and simplified gyration (summary by Shaheen et al., 2015). (618346)

MalaCards based summary : Microcephaly, Growth Deficiency, Seizures, and Brain Malformations, is also known as migsb. An important gene associated with Microcephaly, Growth Deficiency, Seizures, and Brain Malformations is WDR4 (WD Repeat Domain 4). Affiliated tissues include brain.

Related Diseases for Microcephaly, Growth Deficiency, Seizures, and Brain...

Symptoms & Phenotypes for Microcephaly, Growth Deficiency, Seizures, and Brain...

Clinical features from OMIM:

618346

Drugs & Therapeutics for Microcephaly, Growth Deficiency, Seizures, and Brain...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Growth Deficiency, Seizures, and Brain Malformations

Genetic Tests for Microcephaly, Growth Deficiency, Seizures, and Brain...

Anatomical Context for Microcephaly, Growth Deficiency, Seizures, and Brain...

MalaCards organs/tissues related to Microcephaly, Growth Deficiency, Seizures, and Brain Malformations:

42
Brain

Publications for Microcephaly, Growth Deficiency, Seizures, and Brain...

Variations for Microcephaly, Growth Deficiency, Seizures, and Brain...

ClinVar genetic disease variations for Microcephaly, Growth Deficiency, Seizures, and Brain Malformations:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR4 NM_033661.4(WDR4): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 21, 44282449: 44282449
2 WDR4 NM_033661.4(WDR4): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 21, 42862339: 42862339

Expression for Microcephaly, Growth Deficiency, Seizures, and Brain...

Search GEO for disease gene expression data for Microcephaly, Growth Deficiency, Seizures, and Brain Malformations.

Pathways for Microcephaly, Growth Deficiency, Seizures, and Brain...

GO Terms for Microcephaly, Growth Deficiency, Seizures, and Brain...

Sources for Microcephaly, Growth Deficiency, Seizures, and Brain...

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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