1
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
2
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
3
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
4
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
5
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
|
|
|
|
309 / 7739
|
6
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
7
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
8
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
10
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
11
|
(HPO:0003982)
|
Absent ulna |
|
|
|
|
7 / 7739
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
13
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
14
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
15
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
16
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
17
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
18
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
19
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
20
|
(HPO:0002990)
|
Fibular aplasia |
|
|
|
|
16 / 7739
|
21
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
22
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
23
|
(HPO:0003041)
|
Humeroradial synostosis |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
24
|
(HPO:0003070)
|
Elbow ankylosis |
|
|
|
|
8 / 7739
|
25
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
26
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
27
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
28
|
(HPO:0001562)
|
Oligohydramnios |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
29
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
30
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
31
|
(HPO:0000269)
|
Prominent occiput |
|
|
|
|
43 / 7739
|
32
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
33
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
34
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
35
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
36
|
(HPO:0000879)
|
Short sternum |
|
|
|
|
16 / 7739
|
37
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
38
|
(HPO:0001195)
|
Single umbilical artery |
|
|
|
|
23 / 7739
|
39
|
(HPO:0002107)
|
Pneumothorax |
|
|
|
|
7 / 7739
|
40
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
41
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
42
|
(HPO:0008665)
|
Clitoral hypertrophy |
|
|
|
|
10 / 7739
|
43
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
44
|
(HPO:0009800)
|
Maternal diabetes |
|
|
|
|
14 / 7739
|
45
|
(HPO:0009829)
|
Phocomelia |
|
|
|
|
20 / 7739
|
46
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
47
|
(OMIM)
|
Birth length below 5th percentile |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Birth weight below 5th percentile |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
'Potter-like' facies |
|
|
|
|
2 / 7739
|
50
|
(OMIM)
|
Long-tented upper lip |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Long, thin ribs |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Circumferential penile groove |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Prominent labia minora |
|
|
|
|
1 / 7739
|
54
|
(OMIM)
|
Anterior rounding of lumbar vertebrae |
|
|
|
|
1 / 7739
|
55
|
(OMIM)
|
Wide alar wing |
|
|
|
|
1 / 7739
|
56
|
(HPO:0009821)
|
Forearm undergrowth |
|
|
|
|
8 / 7739
|
57
|
(OMIM)
|
Aplastic-hypoplastic radius |
|
|
|
|
1 / 7739
|
58
|
(HPO:0003862)
|
Absent humerus |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Thin leg |
|
|
|
|
2 / 7739
|
60
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
61
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
62
|
(HPO:0000107)
|
Renal cyst |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
63
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
64
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
65
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|