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ZIRC
OBO ID: DOID:0080107
Term Name: microcephaly and chorioretinopathy 3 Search Ontology:
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)
OTHER microcephaly and chorioretinopathy 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TUBGCP4 Microcephaly and chorioretinopathy, autosomal recessive, 3 616335
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None