Term Name: microcephaly and chorioretinopathy 3
Synonyms:
Definition: A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene.
Ontology: Human Disease [DOID:0080107]   ( DOID:0080107 )

Relationships
is a type of: autosomal recessive disease syndrome