Male
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_007055.4:c.[1909+22G>A;3337-11T>C] | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
264090.1.1 | Palestine | Progeroid facial appearance; Lack of facial subcutaneous fat; Natal tooth; Psychomotor retardation; Chronic lung disease; Macrocephaly | Male | Yes | Yes | |
264090.1.2 | Palestine | Progeroid facial appearance; Lack of facial subcutaneous fat; Natal tooth; Psychomotor retardation; Macrocephaly | Female | Yes | Yes | Sister of 264090.1.1 |
264090.1.3 | Palestine | Progeroid facial appearance; Lack of facial subcutaneous fat; Natal tooth; Psychomotor retardation; Macrocephaly; Recurrent respiratory infections | Male | Yes | Yes | Brother of 264090.1.1 |
264090.1.5 | Palestine | Female | Mother of 264090.1.1. |