Disease #00700

Official abbreviation JBTS-5
Name Joubert syndrome, type 5 (JBTS-5)
OMIM ID 610188
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene CEP290
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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Owner     
00080878 - Trujillano et al., submitted unaffected parents - - - - - 0 - - JBTS-5 CEP290 CEP290 1 1 Daniel Trujillano
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