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GENE - TERM ANNOTATION REPORT

RGD ID: 733941
Species: Homo sapiens
RGD Object: Gene
Symbol: NAE1
Name: NEDD8 activating enzyme E1 subunit 1
Acc ID: DOID:9005238
Term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
Definition: This disease is an autosomal recessive disorder characterized by dysmorphic facies, ischiopubic hypoplasia, and moderate to severe global developmental delay. Affected individuals show episodic regression during periods of stress, including seizures or infection. Brain imaging shows diminished white matter volume, enlarged ventricles, and thin corpus callosum.
Definition Source(s): MIM:620210
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)
NAE1 IAGP 7240710OMIM  
NAE1 IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasiaPMID:36608681
NAE1 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasiaPMID:25741868
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