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Parent Node:
expandJoubert syndrome and related disorders (MONDO:0015369)
Parent Node:
expandoculomotor apraxia or related oculomotor disease (MONDO:0020258)
Parent Node:
expandsyndrome with a symptomatic strabismus (MONDO:0020253)
Parent Node:
expandsyndromic retinitis pigmentosa (MONDO:0020240)
..Starting node
..expandJoubert syndrome with ocular defect ()

       Child Nodes:
........expandJoubert syndrome 14 ()
........expandJoubert syndrome 15 ()
........expandJoubert syndrome 20 ()
........expandJoubert syndrome 28 ()
........expandJoubert syndrome 3 ()



 Sister Nodes: 
..expandAlstrom syndrome ()
..expandautosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome ()
..expandBardet-Biedl syndrome ()
..expandcleft lip-retinopathy syndrome ()
..expandCockayne syndrome ()
..expandCohen syndrome ()
..expandfamilial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome ()
..expandhypogonadotropic hypogonadism-retinitis pigmentosa syndrome ()
..expandJoubert syndrome with ocular defect ()
..expandJoubert syndrome with oculorenal defect ()
..expandKearns-Sayre syndrome ()  LSDB  L: 00143;
..expandLaurence-Moon syndrome ()
..expandmuscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ()
..expandoculotrichodysplasia ()
..expandosteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome ()
..expandpantothenate kinase-associated neurodegeneration ()
..expandPHARC syndrome ()
..expandprimary ciliary dyskinesia-retinitis pigmentosa syndrome ()
..expandpseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa ()
..expandretinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome ()
..expandretinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome ()
..expandretinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome ()
..expandRHYNS syndrome ()
..expandSaldino-Mainzer syndrome ()
..expandspastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome ()
..expandTELO2-related intellectual disability-neurodevelopmental disorder ()
..expandUsher syndrome ()
..expandxeroderma pigmentosum-Cockayne syndrome complex ()
   

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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16364
Name:Joubert syndrome with ocular defect
Definition:Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.
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Synonyms:JBTS3; Joubert syndrome 3; Joubert syndrome with ocular anomalies; Joubert syndrome with retinopathy; JS-O
Slim Mappings:
Reference: MedGen:
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OMIM:
MSeqDR LSDB:  
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Disease Causing ClinVar Variants
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