|
1
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000158)
|
Macroglossia |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
3
|
(HPO:0001789)
|
Hydrops fetalis |
Frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
4
|
(HPO:0100240)
|
Synostosis of joints |
Frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0000695)
|
Natal tooth |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
6
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
7
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
8
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
9
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
10
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
11
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
12
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
13
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
|
14
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
15
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
16
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
17
|
(HPO:0006487)
|
Bowing of the long bones |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
20
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
21
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
22
|
(HPO:0004233)
|
Advanced ossification of carpal bones |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
24
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
25
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
26
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
27
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
28
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
29
|
(HPO:0003177)
|
Squared iliac bones |
|
|
|
|
7 / 7739
|
|
30
|
(HPO:0005789)
|
Generalized osteosclerosis |
|
|
|
|
10 / 7739
|
|
31
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
32
|
(HPO:0008108)
|
Advanced tarsal ossification |
|
|
|
|
4 / 7739
|
|
33
|
(HPO:0008754)
|
Laryngeal calcification |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0009924)
|
Aplasia/Hypoplasia involving the nose |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
35
|
(OMIM)
|
Severe midface hypoplasia |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Anterior rib widening |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Generalized sclerosis |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Advanced skeletal maturation |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Normal vertebrae |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Square ilia |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Die at birth or shortly after birth |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
43
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
44
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
45
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
46
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
47
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|