Term Name: microcephaly and chorioretinopathy 2
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.
Ontology: Human Disease [DOID:0080106]   ( DOID:0080106 )

Relationships
is a type of: autosomal recessive disease syndrome