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GENE - TERM ANNOTATION REPORT

CRRD ID: 12024160
Species: Pan paniscus
CRRD Object: Gene
Symbol: ZMYND19
Name: zinc finger MYND-type containing 19
Acc ID: DOID:0060352
Term: Kleefstra syndrome 1
Definition: A syndrome that is characterized by severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/9q34_deletion_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15264279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16826528 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21245904 "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)
ZMYND19 ISORGD:268981189068941ClinVarClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:26833960, PMID:28492532
ZMYND19 ISORGD:268982399068941ClinVarClinVar Annotator: match by term: Kleefstra syndrome 1

PMID:19264732, PMID:27891178, 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.