ACD-del1
|
Loss chr16: 86,103,904–86,253,076
|
Post mortem
|
ACD/MPV
|
None
|
ACD-del2
|
Loss chr16: 86,103,904–86,305,560
|
Post mortem
|
ACD/MPV
|
Omphalecele, hydronephrosis
|
ACD-del3
|
Loss chr16: 86,209,574–87,669,623
|
6 days of life
|
ACD/MPV
|
Chylothorax
|
ACD-mut1
|
chr16: 86510735C > G p.(L56V)
|
34 days of life
|
ACD/MPV
|
Hirshprung (clinical diagnosis)
|
ACD-mut2
|
chr16: 86510822T > A p.(F85I)
|
Post mortem
|
ACD/MPV
|
Atrial septal defect, ventricle septal defect, gall bladder agenesis, duodenal atresia, anal atresia, intestinal malrotation
|
ACD-mut3
|
chr16: 86510730delT p.(I54Tfs*16)
|
9 days of life
|
ACD/MPV
|
None
|
ACD-none1
|
None
|
Post mortem
|
ACD/MPV
|
None
|
ACD-none2
|
None*
|
Post mortem
|
ACD/MPV
|
None
|
C1
|
–
|
Post mortem
|
Ventriculomegaly
|
None
|
C2
|
–
|
Post mortem
|
Hypovolemic shock
|
None
|
C3
|
–
|
Post mortem
|
Asphyction
|
None
|