608833.1.1

Country

Lebanon

HPO Terms

Dyspnea; Hypoxemia; Thrombocytopenia; Premature graying of hair; Hypopigmentation of the skin; Pulmonary fibrosis; Portal hypertension; Bone marrow hypercellularity; Abnormality of the liver; Death in early adulthood

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001283009.2:c.1993G>A	2

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Remarks

Proband, individual 'IV-3' in the publication

References

Gutierrez-Rodrigues et al, 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
608833.1.2	Lebanon	Short telomere length	Female		Yes	Mother of 608833.1.1
608833.1.3	Lebanon	Acute myeloid leukemia; Short telomere length; Hypopigmentation of the skin; Death in early adulthood	Female	Yes	Yes	Sibling of 608833.1.1
608833.1.4	Lebanon	Acute myeloid leukemia; Avascular necrosis; Bone marrow hypercellularity; Short telomere length; Death in early adulthood	Male	Yes	Yes	Sibling of 608833.1.1
608833.1.5	Lebanon	Avascular necrosis; Short telomere length	Female	Yes	Yes	Sibling of 608833.1.1
608833.1.6	Lebanon	Thrombocytopenia; Short telomere length	Male	Yes	Yes	Sibling of 608833.1.1
608833.1.7	Lebanon	Avascular necrosis; Short telomere length	Female	Yes	Yes	Sibling of 608833.1.1
608833.1.8	Lebanon	Thrombocytopenia; Short telomere length	Female	Yes	Yes	Sibling of 608833.1.1
608833.1.9	Lebanon	Short telomere length	Female	Yes	Yes	Asymptomatic sibling of 608833.1.1
608833.1.10	Lebanon	Short telomere length	Male		Yes	Asymptomatic cousin of 608833.1.1