Genes associated with “IDDLA”

24 genes found
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
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Strong Candidates

1 gene
1
22
score
ClinGen: DefinitiveGTR ↑

Intellectual developmental disorder with language impairment with or without autistic features

Frequency
-
P/LP Variants
133
OT Score
-

Consider

6 genes
13IDDLA

INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES; IDDLA

13MITF
Def
8FRMD4B
8PDZRN3
8PPP4R2
8ROBO2

Possible

17 genes — click to expand
7LMOD3
Def
7PROK2
Def
5ROBO1
Lim
4ARL6IP5
4CNTN3
4EBLN2
4EIF4E3
4FOXP1-IT1
4FRG2C
4GPR27
4GXYLT2
4SHQ1
4TAFA1
4TAFA4
4TMF1
4UBA3
4ZNF717

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.