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Metadata
ID DOID:0110997
Name Joubert syndrome 28
Definition A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23.
https://www.ncbi.nlm.nih.gov/pubmed/24886560
Xrefs

OMIM:617121

Synonyms

JBTS28 [EXACT]

Parent Relationships

is_a Joubert syndrome

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