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GENE - TERM ANNOTATION REPORT

RGD ID: 14144651
Species: Sus scrofa
RGD Object: Gene
Symbol: HNRNPR
Name: heterogeneous nuclear ribonucleoprotein R
Acc ID: DOID:9001294
Term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
Definition: This disease is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities.
Definition Source(s): MIM:620073
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)
HNRNPR ISOHNRNPR (Homo sapiens)7240710OMIM  
HNRNPR ISOHNRNPR (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalitiesPMID:16757948 PMID:25741868 PMID:26795593 PMID:31079900 PMID:9421497
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