Search Ontology:
Human Disease

Joubert syndrome 26

Term ID
DOID:0110995
Synonyms
  • JBTS26
Definition
A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. https://www.ncbi.nlm.nih.gov/pubmed/26714646
References
Ontology
Human Disease   ( DOID:0110995 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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