Search Ontology:
Human Disease

Joubert syndrome 35

Term ID
DOID:0061337
Synonyms
  • JBTS35
Definition
A Joubert syndrome that is characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia and that has_material_basis_in homozygous mutation in the ARL3 gene on chromosome 10q24.32. https://pubmed.ncbi.nlm.nih.gov/30269812/
References
Ontology
Human Disease   ( DOID:0061337 )
Relationships
Other Pages
Genes Involved
Zebrafish Models
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