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GENE - TERM ANNOTATION REPORT

RGD ID: 1307763
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Actl6b
Name: actin-like 6B
Acc ID: DOID:9006467
Term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
Definition: An autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech.
Definition Source(s): OMIM:618470
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Actl6b ISOACTL6B (Homo sapiens)7240710OMIM  
Actl6b ISOACTL6B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual developmental disorder with severe speech and ambulation defectsPMID:25741868 PMID:28492532 PMID:31031012 PMID:34008892 PMID:35887114
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