Joubert syndrome 38

Term ID

DOID:0061341

Synonyms

• JBTS38

Definition

A Joubert syndrome that is characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI and that has_material_basis_in compound heterozygous mutation in the KIAA0753 gene on chromosome 17p13.1. https://pubmed.ncbi.nlm.nih.gov/28220259/

References

• MIM:619476
• ORDO:475

Ontology

Human Disease   ( DOID:0061341 )