612379.3.1

Country

United Arab Emirates

HPO Terms

Intellectual disability; Cerebellar atrophy; Spasticity; Abnormality of movement; Dystonia; Coloboma; Nystagmus; Optic atrophy; Erythroderma; Microphthalmia; Atopic dermatitis; Failure to thrive; Microcytic anemia; Elevated hepatic transaminase

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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_024592.4:c.286_288delinsTGAGTAAGGC	2		Congenital Disorder Of Glycosylation, Type Iq

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Remarks

Proband. Emirati family of Baluchi origin.

References

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
612379.3.2	United Arab Emirates	Intellectual disability; Cerebellar atrophy; Spasticity; Abnormality of movement; Dystonia; Coloboma; Nystagmus; Optic atrophy; Erythroderma; Microphthalmia; Atopic dermatitis; Failure to thrive; Microcytic anemia; Elevated hepatic transaminase; Hypotonia; Visual loss; Flexion contracture	Male	Yes	Yes	Brother of the proband. Emirati family of Baluchi origin.