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ZIRC
OBO ID: DOID:0080105
Term Name: microcephaly and chorioretinopathy 1 Search Ontology:
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. https://www.ncbi.nlm.nih.gov/pubmed/25344692
References:
Ontology: Human Disease   (DOID:0080105)
OTHER microcephaly and chorioretinopathy 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TUBGCP6 Microcephaly and chorioretinopathy, autosomal recessive, 1 251270
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None