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Central hypotonia
Central hypotonia
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Central hypotonia
HP:0001252
IQSEC1
Unknown
31607425
Open Targets
Endocytosis
P4HTM
Unknown
25078763
30940925
Open Targets
—
All
2
Causal
0
Unknown
2
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
2
Related Diseases
Diseases that share the most curated genes with Central hypotonia.
5
View disease cluster →
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
1 shared gene
P4HTM
Related via 1 shared gene including P4HTM.
Hypoventilation
1 shared gene
P4HTM
Related via 1 shared gene including P4HTM.
Intellectual developmental disorder behavioral short stature
1 shared gene
IQSEC1
Related via 1 shared gene including IQSEC1.
Abnormality of the eye
1 shared gene
P4HTM
Related via 1 shared gene including P4HTM.
Muscular hypotonia
1 shared gene
P4HTM
Related via 1 shared gene including P4HTM.
1
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