| 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  |