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614465.5
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Subject Details
Country
Oman
HPO Terms
Oculomotor apraxia; Chorioretinal coloboma
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Sex
Female
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_016464.5:c.389A>G
2
Joubert Syndrome 16
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Remarks
6 affected siblings who died in childhood
References
Lee et al. 2012
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