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Joubert syndrome 17

Joubert syndrome type 17 is an autosomal recessive disorder caused by mutations in the TMEM237 gene.

Systematic

Joubert syndrome
Joubert syndrome 01
Joubert syndrome 02
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Joubert syndrome 04
Joubert syndrome 05
Joubert syndrome 06
Joubert syndrome 07
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Joubert syndrome 09
Joubert syndrome 10
Joubert syndrome 11
Joubert syndrome 12
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
CPLANE1
Joubert syndrome 18
Joubert syndrome 19
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 29
Joubert syndrome 30
Joubert syndrome 31
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Joubert syndrome 33
Joubert syndrome 34
Joubert syndrome 35

References:

1.

Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

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2.

Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

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3.

Srour M et al. (2012) Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

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4.

Damerla RR et al. (2015) Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.

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5.

OMIM.ORG article

Omim 614615 external link
Update: Aug. 14, 2020
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