Joubert syndrome 26

Term ID

DOID:0110995

Synonyms

• JBTS26

Definition

A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. https://www.ncbi.nlm.nih.gov/pubmed/26714646

References

• OMIM:616784

Ontology

Human Disease   ( DOID:0110995 )