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 | |
Parent Relationships |
is_a syndrome |