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GENE - TERM ANNOTATION REPORT

RGD ID: 18911230
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Fat4
Name: FAT atypical cadherin 4
Acc ID: DOID:0060238
Term: Van Maldergem syndrome
Definition: A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/1633641 "DO" "DO"
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)
Fat4 ISOFAT4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Van Maldergem syndromePMID:24033266 PMID:24056717 PMID:24913602 PMID:28492532
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