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Metadata
ID DOID:0110990
Name Joubert syndrome 21
Definition A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13.
https://www.ncbi.nlm.nih.gov/pubmed/24360808
Xrefs

OMIM:615636

Synonyms

JBTS21 [EXACT]

Parent Relationships

is_a Joubert syndrome

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