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GENE - TERM ANNOTATION REPORT

RGD ID: 18665781
Species: Chlorocebus sabaeus
RGD Object: Gene
Symbol: LARP7
Name: La ribonucleoprotein 7, transcriptional regulator
Acc ID: DOID:9004307
Term: Alazami Syndrome
Definition: A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia.
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)
LARP7 ISOLARP7 (Homo sapiens)7240710OMIM  
LARP7 ISOLARP7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Alazami syndrome | ClinVar Annotator: match by term: LARP7-related conditionPMID:17576681 PMID:21937992 PMID:22865833 PMID:25741868 PMID:25753663 PMID:26374271 PMID:26539891 PMID:26607181 PMID:28492532 PMID:29619239 PMID:30006060 PMID:30426380 PMID:31074943 PMID:32860008 PMID:9536098
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