Joubert syndrome 40

Term ID

DOID:0061343

Synonyms

• JBTS40

Definition

A Joubert syndrome that is characterized by developmental delay, postaxial polydactyly, subtle midline notching or clefting of the upper lip, hypotonia, and the 'molar tooth sign' on brain imaging and that has_material_basis_in compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2. https://pubmed.ncbi.nlm.nih.gov/34539760/

References

• MIM:619582
• ORDO:475

Ontology

Human Disease   ( DOID:0061343 )