Term Name: Joubert syndrome 35
Synonyms: JBTS35
Definition: A Joubert syndrome that is characterized by brain malformations that result in developmental delay, oculomotor apraxia, and hypotonia and that has_material_basis_in homozygous mutation in the ARL3 gene on chromosome 10q24.32.
Ontology: Human Disease [DOID:0061337]   ( DOID:0061337 )

Relationships
is a type of: autosomal recessive disease Joubert syndrome