1
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
2
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
3
|
(HPO:0000888)
|
Horizontal ribs |
|
|
|
|
12 / 7739
|
4
|
(HPO:0010306)
|
Short thorax |
|
|
|
|
10 / 7739
|
5
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
6
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
7
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
8
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
9
|
(HPO:0001195)
|
Single umbilical artery |
|
|
|
|
23 / 7739
|
10
|
(HPO:0001405)
|
Periportal fibrosis |
|
|
|
|
5 / 7739
|
11
|
(HPO:0001541)
|
Ascites |
|
|
|
|
94 / 7739
|
12
|
(HPO:0001737)
|
Pancreatic cysts |
|
|
|
|
15 / 7739
|
13
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
14
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
15
|
(HPO:0002979)
|
Bowing of the legs |
|
|
|
|
28 / 7739
|
16
|
(HPO:0005209)
|
Intrahepatic bile duct cysts |
|
|
|
|
1 / 7739
|
17
|
(HPO:0006488)
|
Bowing of the arm |
|
|
|
|
2 / 7739
|
18
|
(HPO:0008501)
|
Median cleft lip and palate |
|
|
|
|
7 / 7739
|
19
|
(HPO:0008702)
|
Absent internal genitalia |
|
|
|
|
1 / 7739
|
20
|
(HPO:0009826)
|
Limb undergrowth |
|
|
|
|
8 / 7739
|
21
|
(OMIM)
|
Short, bowed limbs |
|
|
|
|
2 / 7739
|
22
|
(OMIM)
|
Intracranial malformations |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Periportal hepatic fibrosis |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Accessory frenulum |
|
|
|
|
1 / 7739
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
26
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
27
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
28
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
29
|
(HPO:0000180)
|
Lobulated tongue |
|
|
|
|
8 / 7739
|
30
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
31
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
32
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
33
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
34
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
35
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
36
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
37
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
38
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
39
|
(HPO:0000695)
|
Natal tooth |
|
|
|
|
42 / 7739
|
40
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
41
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
42
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
43
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
44
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
45
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
46
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
47
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
48
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
49
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
|
|
31 / 7739
|
50
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
51
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|
52
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
53
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
54
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
55
|
(HPO:0002323)
|
Anencephaly |
|
|
|
|
28 / 7739
|
56
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
57
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
58
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
59
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|
60
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
61
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
62
|
(HPO:0006644)
|
Thoracic dysplasia |
|
|
|
|
12 / 7739
|
63
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
64
|
(HPO:0011802)
|
Hamartoma of tongue |
|
|
|
|
4 / 7739
|
65
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
66
|
(HPO:0100750)
|
Atelectasis |
|
|
|
|
17 / 7739
|