Joubert syndrome 23

Term ID

DOID:0110992

Synonyms

• JBTS23

Definition

A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/26096313

References

• MIM:616490

Ontology

Human Disease   ( DOID:0110992 )