OBO ID: DOID:0110995
Term Name: Joubert syndrome 26 Search Ontology:
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 Joubert syndrome 26 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
KIAA0556 Joubert syndrome 26 616784
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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