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Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
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Subtype of:
Neurodevelopmental disorder
·
Neurodevelopmental disorder with hypotonia and brain abnormalities
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities
MONDO_0859165
MONDO_0971043
PPP1R21
Causal
30520571
32985083
29808498
37267906
28940097
38356149
ClinGen
,
Open Targets
—
WBP4
Unknown
37425688
37963460
Open Targets
mRNA Splicing - Major Pathway
All
2
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
2
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3
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Neurodevelopmental disorder
2 shared genes
PPP1R21, WBP4
Related via 2 shared genes including PPP1R21, WBP4.
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1 shared gene
PPP1R21
Related via 1 shared gene including PPP1R21.
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1 shared gene
PPP1R21
Related via 1 shared gene including PPP1R21.
1
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