|
1
|
(HPO:0002823)
|
Abnormality of the femur |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0001539)
|
Omphalocele |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
3
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
4
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0002990)
|
Fibular aplasia |
|
|
|
|
16 / 7739
|
|
6
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
7
|
(HPO:0001789)
|
Hydrops fetalis |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
8
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
9
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0002997)
|
Abnormality of the ulna |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
13
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
14
|
(HPO:0003063)
|
Abnormality of the humerus |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
15
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
16
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
|
17
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
18
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
19
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
20
|
(HPO:0005104)
|
Hypoplastic nasal septum |
|
|
|
|
3 / 7739
|
|
21
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
22
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
23
|
(HPO:0008824)
|
Hypoplastic iliac body |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Short, bowed, rigid limbs |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Absent radii and fibulae with boomerang shaped remaining long bones |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Retarded ossification of lower spine and digits |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Congential dwarfism |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Hypoplastic nares and septum |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
30
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
31
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
32
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
33
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
35
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|