| Term Name: | microcephaly and chorioretinopathy 1 |
|---|---|
| Synonyms: | |
| Definition: | A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. |
| Ontology: | Human Disease [DOID:0080105] ( DOID:0080105 ) |