| Metadata | |
|---|---|
| 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 |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |