Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080107 )
Relationships
is a type of
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Genes Involved
Zebrafish Models