214500.1

Country

United Arab Emirates

HPO Terms

Pneumonia; Fever; Poor appetite; Wheezing; Weight loss; Eczema; Abscess; Sparse hair; Forehead hyperpigmentation; Hypopigmentation of the skin; Decreased body weight

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000081.4:c.6159_6160del	2		Chediak-Higashi Syndrome

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Remarks

proband. Mother had gestational diabetes

References

Helmi et al. 2017