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612940.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Intrauterine growth retardation; Postnatal growth retardation; Progeroid facial appearance; Global developmental delay; Abnormal facial shape; Cataract; Glaucoma; Buphthalmos; Corneal opacity
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006907.4:c.616G>A
2
NA
Cutis Laxa, Autosomal Recessive, Type IIB
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Remarks
Patient was noted to have autosomal recessive cutis laxa type IIB in Maddirevula et al. 2018. She was reported with ophthalmological abnormalities in Alazami et al, 2016.
References
Maddirevula et al. 2018;
Alazami et al, 2016
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