Disease #00609 (JBTS17 (Joubert syndrome, type 17 (JBTS-17)), OMIM:614615)

Official abbreviation JBTS17
Name Joubert syndrome, type 17 (JBTS-17)
OMIM ID 614615
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene C5orf42
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00361895 - - - - - - - - - - - JBTS17 Developmental delay,molar tooth sign and cerebellar vermis agenesis on MRI brain - C5orf42 1 1 Anju Shukla
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