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Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
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Subtype of:
Hypotonia
·
Hypotonia, infantile, with psychomotor retardation and characteristic facies
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
MONDO_0014823
TBCK
Causal
25529582
27040692
27040691
25558065
Open Targets
—
All
1
Causal
1
Unknown
0
Select all
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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1 shared gene
TBCK
Related via 1 shared gene including TBCK.
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1 shared gene
TBCK
Related via 1 shared gene including TBCK.
Ventricular septal defect
1 shared gene
TBCK
Related via 1 shared gene including TBCK.
Congenital neurologic anomalies
1 shared gene
TBCK
Related via 1 shared gene including TBCK.
Seizures
1 shared gene
TBCK
Related via 1 shared gene including TBCK.
1
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