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General Information
ZIRC
OBO ID: DOID:0080106
Term Name: microcephaly and chorioretinopathy 2 Search Ontology:
Synonyms:
Definition: A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. https://www.ncbi.nlm.nih.gov/pubmed/25344692
References:
Ontology: Human Disease   (DOID:0080106)
OTHER microcephaly and chorioretinopathy 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2 616171
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None