614069.1.3

Country

Lebanon

HPO Terms

Global developmental delay; Intellectual disability; Cough; Rhinitis; High palate; Short chin; Retrognathia; Everted lower lip vermilion

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Sex

Male

Family History

Yes

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014797.2:c.396_397del	2	NA	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2

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Remarks

Brother of 614069.1.1 & 614069.1.2 (On karyotyping, 30-40% of the cells showed whole-arm deletions, pericentromic breaks, and multibranching in chromosome 1, 6, and 9).

References

Chouery et al., 2012

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
614069.1.1	Lebanon	Global developmental delay; Intellectual disability; Cough; Rhinitis; High palate; Short chin; Retrognathia; Everted lower lip vermilion; Protuberant abdomen	Male	Yes	No	Brother of 614069.1.2 & 614069.1.3 (On karyotyping, 30-40% of the cells showed whole-arm deletions, pericentromic breaks, and multibranching in chromosome 1, 6, and 9).
614069.1.2	Lebanon	Global developmental delay; Intellectual disability; Cough; Rhinitis; High palate; Short chin; Retrognathia; Everted lower lip vermilion	Male	Yes	No	Brother of 614069.1.1 & 614069.1.3 (On karyotyping, 30-40% of the cells showed whole-arm deletions, pericentromic breaks, and multibranching in chromosome 1, 6, and 9).
614069.1.4	Lebanon		Male	Yes	No	Father of 614069.1.1, 614069.1.2 & 614069.1.3
614069.1.5	Lebanon		Female	Yes	Yes	Mother of 614069.1.1, 614069.1.2 & 614069.1.3