Genes associated with “NEDSMB”
3 genes foundOpen Targets: neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities1 ClinVar P/LP variants
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
hover for detailsConsider
3 genesScore
Gene
Evidence
Freq
P/LP
OT
Description
13NEDSMB
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES; NEDSMB
13
HPOnone
ClinVarnone
Phen2Genenone
Open Targetsnone
PanelAppnone
-
-
-
NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES; NEDSMB
11PPFIBP1
PPFIB scaffold protein 1
11UBE3C
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
11
HPOnone
ClinVar20%
Phen2Genenone
Open Targetsnone
PanelAppnone
-
1
-
Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.