Term Name: microcephaly and chorioretinopathy 1
Synonyms:
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.
Ontology: Human Disease [DOID:0080105]   ( DOID:0080105 )

Relationships
is a type of: autosomal recessive disease syndrome