Metadata | |
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ID | DOID:0080105 |
Name | microcephaly and chorioretinopathy 1 |
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. https://www.ncbi.nlm.nih.gov/pubmed/25344692 |
Xrefs | |
Parent Relationships |
is_a syndrome |