612379.1.1

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Country

United Arab Emirates

HPO Terms

Global developmental delay; Delayed speech and language development; Microcephaly; Failure to thrive; Optic nerve hypoplasia; Abnormality of the kidney; Cleft palate; Cutis laxa; Hyperkeratosis; Hyperpigmentation of the skin; Hypertrichosis; Anterior pituitary hypoplasia; Polymicrogyria; Cerebellar vermis hypoplasia
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024592.5:c.57G>A2
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References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
612379.1.2United Arab EmiratesMaleFather of 612379.1.1
612379.1.3United Arab EmiratesFemaleMother of 612379.1.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.