MCID: MCR345
MIFTS: 13

Microcephaly with Simplified Gyral Pattern

Aliases & Classifications for Microcephaly with Simplified Gyral Pattern

MalaCards integrated aliases for Microcephaly with Simplified Gyral Pattern:

Name: Microcephaly with Simplified Gyral Pattern 57 29

External Ids:

OMIM® 57 603802

Summaries for Microcephaly with Simplified Gyral Pattern

MalaCards based summary : Microcephaly with Simplified Gyral Pattern is related to microcephaly and neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies. An important gene associated with Microcephaly with Simplified Gyral Pattern is IER3IP1 (Immediate Early Response 3 Interacting Protein 1). Affiliated tissues include brain.

More information from OMIM: 603802

Related Diseases for Microcephaly with Simplified Gyral Pattern

Graphical network of the top 20 diseases related to Microcephaly with Simplified Gyral Pattern:



Diseases related to Microcephaly with Simplified Gyral Pattern

Symptoms & Phenotypes for Microcephaly with Simplified Gyral Pattern

Clinical features from OMIM®:

603802 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly with Simplified Gyral Pattern

Search Clinical Trials , NIH Clinical Center for Microcephaly with Simplified Gyral Pattern

Genetic Tests for Microcephaly with Simplified Gyral Pattern

Genetic tests related to Microcephaly with Simplified Gyral Pattern:

# Genetic test Affiliating Genes
1 Microcephaly with Simplified Gyral Pattern 29

Anatomical Context for Microcephaly with Simplified Gyral Pattern

MalaCards organs/tissues related to Microcephaly with Simplified Gyral Pattern:

40
Brain

Publications for Microcephaly with Simplified Gyral Pattern

Articles related to Microcephaly with Simplified Gyral Pattern:

(show all 14)
# Title Authors PMID Year
1
Microcephaly with simplified gyral pattern: MRI classification. 61 57
20124203 2010
2
Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally. 61 57
18452193 2008
3
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia. 57 61
17975804 2007
4
Microcephaly with simplified gyral pattern in six related children. 61 57
10323739 1999
5
Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. 61
32293553 2020
6
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern. 61
29356416 2018
7
Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature. 61
28711742 2017
8
Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder. 61
24138066 2014
9
Microdeletion 5q14.3 and anomalies of brain development. 61
23824879 2013
10
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS). 61
22991235 2012
11
Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. 61
21835305 2011
12
Humero-radial synostosis, microcephaly, short corpus callosum, and abnormal genitalia in sibs. 61
18553517 2008
13
A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis. 61
18053786 2008
14
Oligoyric microcephaly in a child with Williams syndrome. 61
12567416 2003

Variations for Microcephaly with Simplified Gyral Pattern

Expression for Microcephaly with Simplified Gyral Pattern

Search GEO for disease gene expression data for Microcephaly with Simplified Gyral Pattern.

Pathways for Microcephaly with Simplified Gyral Pattern

GO Terms for Microcephaly with Simplified Gyral Pattern

Sources for Microcephaly with Simplified Gyral Pattern

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