Joubert syndrome 15

Term ID

DOID:0110984

Synonyms

• JBTS15

Definition

A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. https://www.ncbi.nlm.nih.gov/pubmed/22246503

References

• OMIM:614464

Ontology

Human Disease   ( DOID:0110984 )