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 NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001283009.2:c.1993G>A 2

Remarks

Proband, individual 'IV-3' in the publication

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
608833.1.2LebanonShort telomere lengthFemaleYesMother of 608833.1.1
608833.1.3LebanonAcute myeloid leukemia; Short telomere length; Hypopigmentation of the skin; Death in early adulthoodFemaleYesYesSibling of 608833.1.1
608833.1.4LebanonAcute myeloid leukemia; Avascular necrosis; Bone marrow hypercellularity; Short telomere length; Death in early adulthoodMaleYesYesSibling of 608833.1.1
608833.1.5LebanonAvascular necrosis; Short telomere lengthFemaleYesYesSibling of 608833.1.1
608833.1.6LebanonThrombocytopenia; Short telomere lengthMaleYesYesSibling of 608833.1.1
608833.1.7LebanonAvascular necrosis; Short telomere lengthFemaleYesYesSibling of 608833.1.1
608833.1.8LebanonThrombocytopenia; Short telomere lengthFemaleYesYesSibling of 608833.1.1
608833.1.9LebanonShort telomere lengthFemaleYesYesAsymptomatic sibling of 608833.1.1
608833.1.10LebanonShort telomere lengthMaleYesAsymptomatic cousin of 608833.1.1
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