Term Name: Joubert syndrome 36
Synonyms: JBTS36
Definition: A Joubert syndrome that is characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly and that has_material_basis_in homozygous mutation in the FAM149B1 gene on chromosome 10q22.2.
Ontology: Human Disease [DOID:0061338]   ( DOID:0061338 )

Relationships
is a type of: autosomal recessive disease Joubert syndrome