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GENE - TERM ANNOTATION REPORT

CRRD ID: 1352036
Species: Homo sapiens
CRRD Object: Gene
Symbol: NHS
Name: NHS actin remodeling regulator
Acc ID: DOID:0080467
Term: early infantile epileptic encephalopathy 2
Definition: An X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. (OMIM)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15492925, https://www.ncbi.nlm.nih.gov/pubmed/22872100
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 IAGPRGD:138196898554872ClinVarClinVar Annotator: match by term: Early infantile epileptic encephalopathy 2

PMID:19780792, PMID:21770923, PMID:23184456, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.