Human genes for Joubert syndrome 25
Joubert syndrome 25 [DOID:0110994]
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.
Synonyms: Joubert syndrome 25, DOID:0110994, JBTS25