|
1
|
(HPO:0002410)
|
Aqueductal stenosis |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
2
|
(HPO:0001539)
|
Omphalocele |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
3
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
|
4
|
(HPO:0000921)
|
Missing ribs |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
5
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0001744)
|
Splenomegaly |
Occasional [Orphanet]
|
|
|
|
337 / 7739
|
|
7
|
(HPO:0002991)
|
Abnormality of the fibula |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
|
8
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
9
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
12
|
(HPO:0002814)
|
Abnormality of the lower limb |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
13
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Occasional [Orphanet]
|
|
|
|
185 / 7739
|
|
14
|
(HPO:0002566)
|
Intestinal malrotation |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
15
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
16
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0002982)
|
Tibial bowing |
|
|
|
|
36 / 7739
|
|
18
|
(HPO:0006385)
|
Short lower limbs |
|
|
|
|
8 / 7739
|
|
19
|
(OMIM)
|
Patent aqueduct of Sylvius |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Hypoplastic multilobed lungs |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
22
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|