Joubert syndrome 36

Term ID

DOID:0061338

Synonyms

• JBTS36

Definition

A Joubert syndrome that is characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly and that has_material_basis_in homozygous mutation in the FAM149B1 gene on chromosome 10q22.2. https://pubmed.ncbi.nlm.nih.gov/30905400/

References

• MIM:618763
• ORDO:475

Ontology

Human Disease   ( DOID:0061338 )