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GENE - TERM ANNOTATION REPORT

RGD ID: 68354
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Scamp4
Name: secretory carrier membrane protein 4
Acc ID: DOID:0081099
Term: neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
Definition: An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. (DO)
Definition Source(s): https://pubmed.ncbi.nlm.nih.gov/30296593/ "DO" "DO"
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)
Scamp4 ISOSCAMP4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Intellectual disability-strabismus syndromePMID:23620220 PMID:25558065 PMID:25741868 PMID:25741916 PMID:26842963 PMID:29796286 PMID:30296593 PMID:32214227 PMID:32860008
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