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 59

Characteristics:

Orphanet epidemiological data:

59
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:

59 32 (show all 8)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
3 hyperreflexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001347
4 neurological speech impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002167
5 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
6 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
7 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
8 keratoconjunctivitis sicca 59 32 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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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