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GENE - TERM ANNOTATION REPORT

RGD ID: 1354208
Species: Homo sapiens
RGD Object: Gene
Symbol: PCDH19
Name: protocadherin 19
Acc ID: HP:0001263
Term: Global developmental delay
Definition: A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Definition Source(s): https://orcid.org/0000-0002-6410-0882, https://orcid.org/0009-0006-4530-3154
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)
PCDH19 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Global developmental delay

PMID:18469813 PMID:21053371 PMID:22267240 PMID:22946748 PMID:23334464 PMID:25741868 PMID:27143072 PMID:27527380 PMID:28492532 PMID:5116697
PCDH19 IAGP 8699517HPO MIM:300088
PCDH19 IAGP 8699517HPO ORPHA:101039
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