Disease #00920

Official abbreviation JBTS-3
Name Joubert syndrome, type 3 (JBTS-3)
OMIM ID 608629
Human Phenotype Ontology Project (HPO) HPO
Inheritance AR
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene AHI1
Associated tissues -
Disease features -
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00269432 - - - M no Korea Asian 24y 0 - - JBTS-3, LCA-10 - AHI1, AIPL1, BBS1, CC2D2A, CEP290, CRB1, CRX, GUCY2D, NMNAT1, POLG, RPE65, RPGRIP1, SPATA7, TBX1, WDR19 AHI1 1 1 Jinu Han
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