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Neurodevelopmental delay
Neurodevelopmental delay
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Subtype of:
Neurodevelopmental disorder
Include the contents of this disease's 1 subtype
in the table below
Show the subtype
Neurodevelopmental delay, congenital heart defects, and distinct facial dysmorphism
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Neurodevelopmental delay
HP:0012758
CHRM1
Unknown
34212451
31981491
12483218
Open Targets
Calcium signaling pathway
cAMP signaling pathway
Neuroactive ligand-receptor interaction
PI3K-Akt signaling pathway
Cholinergic synapse
Regulation of actin cytoskeleton
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Muscarinic acetylcholine receptors
G alpha (q) signalling events
+7 more
KCNK4
Unknown
30290154
Open Targets
TWIK related potassium channel (TREK)
Phase 4 - resting membrane potential
MSL3
Unknown
26350204
19377476
25529582
28135719
30224647
Open Targets
HATs acetylate histones
MYSM1
Unknown
26474655
26220525
24288411
28115216
22184403
28446309
Open Targets
Metalloprotease DUBs
RDH11
Unknown
41459630
24916380
41904678
34988992
18326732
30731079
15634683
Open Targets
Retinol metabolism
Metabolic pathways
Biosynthesis of cofactors
The canonical retinoid cycle in rods (twilight vision)
RA biosynthesis pathway
Retinoid metabolism and transport
+3 more
WDR91
Unknown
34791078
34028500
40550703
38041506
32732226
Open Targets
—
All
6
Causal
0
Unknown
6
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
6
Related Diseases
Diseases that share the most curated genes with Neurodevelopmental delay.
5
View disease cluster →
Congenital progressive bone marrow failure-b-cell immunodeficiency-skeletal dysplasia syndrome
1 shared gene
MYSM1
Related via 1 shared gene including MYSM1.
Mysm1 deficiency
1 shared gene
MYSM1
Related via 1 shared gene including MYSM1.
Basilicata-akhtar syndrome
1 shared gene
MSL3
Related via 1 shared gene including MSL3.
Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome
1 shared gene
KCNK4
Related via 1 shared gene including KCNK4.
Gingival overgrowth
1 shared gene
KCNK4
Related via 1 shared gene including KCNK4.
1
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