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VARIANT - TERM ANNOTATION REPORT

RGD ID: 15128673
Species: Homo sapiens
RGD Object: Variant
Symbol: CV683339
Name: NM_001365999.1(SZT2):c.3638G>A (p.Arg1213His)
Acc ID: DOID:9000983
Term: Encephalocele
Definition: Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur.
Definition Source(s): MESH:D004677
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)
CV683339 IAGP 8554872ClinVarClinVar Annotator: match by term: EncephalocelePMID:23932106 PMID:25741868 PMID:28492532 PMID:31680349
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