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600237.1
Home
Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Severe postnatal growth retardation; Strabismus; Cryptorchidism; Hirsutism; Scoliosis; Abnormality of brain morphology; Abnormal facial shape
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_003325.4:c.41A>G
2
Intellectual Deficiency, Autosomal Recessive, Unclassified
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References
Anazi et al. 2017a
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