Term Name: Joubert syndrome 39
Synonyms: JBTS39
Definition: A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM218 gene on chromosome 11q24.2.
Ontology: Human Disease [DOID:0061342]   ( DOID:0061342 )

Relationships
is a type of: autosomal recessive disease Joubert syndrome