Term Name: | microcephaly and chorioretinopathy 1 |
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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 ) |