microcephaly and chorioretinopathy 3

Term ID

DOID:0080107

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. https://www.ncbi.nlm.nih.gov/pubmed/25344692

References

• OMIM:616335

Ontology

Human Disease   ( DOID:0080107 )