Joubert syndrome 17

Term ID

DOID:0110986

Synonyms

• JBTS17

Definition

A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. https://www.ncbi.nlm.nih.gov/pubmed/26092869

References

• OMIM:614615

Ontology

Human Disease   ( DOID:0110986 )