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Metadata
ID DOID:0080107
Name microcephaly and chorioretinopathy 3
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
Xrefs

MIM:616335

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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