microcephaly and chorioretinopathy 2

Term ID

DOID:0080106

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

• OMIM:616171

Ontology

Human Disease   ( DOID:0080106 )