|
1
|
(HPO:0100867)
|
Duodenal stenosis |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
3
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
4
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
5
|
(HPO:0001539)
|
Omphalocele |
rare [HPO:skoehler]
|
|
|
|
102 / 7739
|
|
6
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
|
7
|
(HPO:0002566)
|
Intestinal malrotation |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
8
|
(OMIM)
|
Cystic adenomatoid malformation, congenital (rare) |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
10
|
(OMIM)
|
Common bile duct dilation (in some patients) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Multiple areas of atresia along the small and large intestines |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Intraluminal calcification on prenatal ultrasound or plain abdominal radiographs |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Bowel distention on prenatal ultrasound |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Multiple small luminae with a sieve-like appearance on microscopic examination |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Mucous membrane ulceration (in some patients) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Granulation tissue (in some patients) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
IgM immunodeficiency (in some patients) |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0004430)
|
Severe combined immunodeficiency |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
|
19
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
20
|
(HPO:0002242)
|
Abnormality of the intestine |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0000778)
|
Hypoplasia of the thymus |
rare [HPO:skoehler]
|
|
|
|
13 / 7739
|
|
23
|
(HPO:0001890)
|
Autoimmune hemolytic anemia |
rare [HPO:skoehler]
|
|
|
|
17 / 7739
|
|
24
|
(HPO:0002573)
|
Hematochezia |
|
|
|
|
18 / 7739
|
|
25
|
(HPO:0003765)
|
Psoriasis |
rare [HPO:skoehler]
|
|
|
|
17 / 7739
|
|
26
|
(HPO:0011100)
|
Intestinal atresia |
|
|
|
|
2 / 7739
|