216400.1.2

Country

Somalia

HPO Terms

Cutaneous photosensitivity; Progressive cerebellar ataxia; Spasticity; Hearing impairment; CNS demyelination; Peripheral demyelination; Bilateral intracerebral calcifications;

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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000082.3:c.551-1G>A	2		Cockayne Syndrome, Type A

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Remarks

Sibling of 216400.1.1

References

Kleppa et al. 2007

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
216400.1.1	Somalia	Cutaneous photosensitivity; Progressive cerebellar ataxia; Spasticity; Hearing impairment; CNS demyelination; Peripheral demyelination; Bilateral intracerebral calcifications;	Unknown	Yes	Yes