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GENE - TERM ANNOTATION REPORT

RGD ID: 1308888
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Dhx30
Name: DExH-box helicase 30
Acc ID: DOID:9009099
Term: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
Definition: A neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. (OMIM)
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)
Dhx30 ISODHX30 (Homo sapiens)7240710OMIM  
Dhx30 ISODHX30 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment and absent languagePMID:25741868 PMID:25741909 PMID:28327206 PMID:28492532 PMID:29100085 PMID:32581362 PMID:34020708
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