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GENE - TERM ANNOTATION REPORT

RGD ID: 1345811
Species: Homo sapiens
RGD Object: Gene
Symbol: EBP
Name: EBP cholestenol delta-isomerase
Acc ID: DOID:9006904
Term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, LANGUAGE DELAY, AND SKELETAL DEFECTS WITH OR WITHOUT SEIZURES
Definition: This disease is characterized by global developmental delay apparent from infancy. Affected individuals show severe hypotonia with delayed walking or inability to walk, poor or absent speech, and impaired intellectual development with behavioral abnormalities.
Definition Source(s): OMIM:620029
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)
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