Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_015909.3:c.409C>T | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
616483.1.1 | Lebanon | Fatal liver failure in infancy ; Hepatosplenomegaly ; Recurrent fractures ; Global developmental delay ; Axial hypotonia ; Abnormal facial shape ; Hirsutism | Male | Yes | Yes | |
616483.1.2 | Lebanon | Fatal liver failure in infancy; Hepatosplenomegaly ; Osteoporosis ; Global developmental delay ; Axial hypotonia ; Abnormal facial shape ; Hirsutism | Female | Yes | Yes | Sister of 616483.1.1 |
616483.1.4 | Lebanon | Male | Yes | Unaffected father of of 616483.1.1 | ||
616483.1.5 | Lebanon | Female | Yes | Unaffected mother of of 616483.1.1 |