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Metadata
ID DOID:0080106
Name microcephaly and chorioretinopathy 2
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
Xrefs

OMIM:616171

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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