Search Ontology:
Human Disease

microcephaly and chorioretinopathy 1

Term ID
DOID:0080105
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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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