MCID: CNT077
MIFTS: 11

Central Bilateral Macrogyria

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Central Bilateral Macrogyria

MalaCards integrated aliases for Central Bilateral Macrogyria:

Name: Central Bilateral Macrogyria 60

Characteristics:

Orphanet epidemiological data:

60
central bilateral macrogyria
Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

Classifications:



Summaries for Central Bilateral Macrogyria

MalaCards based summary : Central Bilateral Macrogyria Affiliated tissues include brain, and related phenotypes are seizures and ataxia

Related Diseases for Central Bilateral Macrogyria

Symptoms & Phenotypes for Central Bilateral Macrogyria

Human phenotypes related to Central Bilateral Macrogyria:

60 33 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
3 hyperreflexia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001347
4 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
5 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
6 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
7 neurological speech impairment 60 33 frequent (33%) Frequent (79-30%) HP:0002167
8 keratoconjunctivitis sicca 60 33 occasional (7.5%) Occasional (29-5%) HP:0001097

Drugs & Therapeutics for Central Bilateral Macrogyria

Search Clinical Trials , NIH Clinical Center for Central Bilateral Macrogyria

Genetic Tests for Central Bilateral Macrogyria

Anatomical Context for Central Bilateral Macrogyria

MalaCards organs/tissues related to Central Bilateral Macrogyria:

42
Brain

Publications for Central Bilateral Macrogyria

Variations for Central Bilateral Macrogyria

Expression for Central Bilateral Macrogyria

Search GEO for disease gene expression data for Central Bilateral Macrogyria.

Pathways for Central Bilateral Macrogyria

GO Terms for Central Bilateral Macrogyria

Sources for Central Bilateral Macrogyria

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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