|
1
|
(HPO:0001195)
|
Single umbilical artery |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0004331)
|
Decreased skull ossification |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0005474)
|
Decreased calvarial ossification |
|
|
|
|
8 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0002536)
|
Abnormal cortical gyration |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
7
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000592)
|
Blue sclerae |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0000062)
|
Ambiguous genitalia |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
14
|
(HPO:0004383)
|
Hypoplastic left heart |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
|
15
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
|
16
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
17
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
18
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
19
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
20
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
21
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
22
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
|
23
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
24
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
25
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
|
26
|
(HPO:0002691)
|
Platybasia |
|
|
|
|
10 / 7739
|
|
27
|
(HPO:0003023)
|
Bowing of limbs due to multiple fractures |
|
|
|
|
6 / 7739
|
|
28
|
(HPO:0005855)
|
Multiple prenatal fractures |
|
|
|
|
10 / 7739
|
|
29
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
30
|
(OMIM)
|
Small brain |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Poorly developed sulci and gyri |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Normal blood biochemistry |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
34
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|