Term Name: Joubert syndrome 25
Synonyms: JBTS25
Definition: A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36.
Ontology: Human Disease [DOID:0110994]   ( DOID:0110994 )

Relationships
is a type of: Joubert syndrome