Visualize Submit Comment

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	OMIM:251270
Parent Relationships	is_a syndrome is_a autosomal recessive disease