609180.1.1

Country

Yemen

HPO Terms

Congenital hypothyroidism; Congenital adrenal hyperplasia; Seizure; Global developmental delay; Hypotonia; Strabismus; Lichenification; Brain atrophy; Dilated cardiomyopathy; Patent ductus arteriosus

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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_004870.3:c.310G>A	2		Congenital Disorder Of Glycosylation, Type If

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References

Bastaki et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
609180.1.2	Yemen	Global developmental delay; Hypotonia; Strabismus; Visual impairment; Hypopigmentation of the fundus; Scaling skin; Dry skin; Eczema; Brain atrophy	Male	Yes	Yes	Brother of 609180.1.1
609180.1.3	Yemen		Male			Father of 609180.1.1
609180.1.4	Yemen		Female			Mother of 609180.1.1