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Microcephaly, seizures, spasticity, and brain calcification
Microcephaly, seizures, spasticity, and brain calcification
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Subtype of:
Microcephaly
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Microcephaly, seizures, spasticity, and brain calcification
MONDO_0016758
PCDH12
Unknown
30459466
28804758
27164683
18477666
30178464
29556033
Open Targets
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All
1
Causal
0
Unknown
1
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Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
1
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Diencephalic mesencephalic junction dysplasia
1 shared gene
PCDH12
Related via 1 shared gene including PCDH12.
Exudative retinopathy
1 shared gene
PCDH12
Related via 1 shared gene including PCDH12.
Marshall syndrome
1 shared gene
PCDH12
Related via 1 shared gene including PCDH12.
Cerebellar ataxia
1 shared gene
PCDH12
Related via 1 shared gene including PCDH12.
Microcephaly
1 shared gene
PCDH12
Related via 1 shared gene including PCDH12.
1
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