Joubert syndrome 14

Term ID

DOID:0110983

Synonyms

• JBTS14

Definition

A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. (2)

References

• OMIM:614424

Ontology

Human Disease   ( DOID:0110983 )