|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0100555)
|
Asymmetric growth |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
7
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
8
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
9
|
(HPO:0004565)
|
Severe platyspondyly |
|
|
|
|
13 / 7739
|
|
10
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
|
11
|
(HPO:0000154)
|
Wide mouth |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
|
12
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
13
|
(HPO:0003028)
|
Abnormality of the ankles |
Frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
14
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
16
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
17
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
18
|
(HPO:0000322)
|
Short philtrum |
Occasional [Orphanet]
|
|
|
|
130 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
21
|
(HPO:0000878)
|
11 pairs of ribs |
rare [HPO:skoehler]
|
|
|
|
19 / 7739
|
|
22
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
23
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
24
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
25
|
(HPO:0006028)
|
Metaphyseal cupping of metacarpals |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0006208)
|
Metaphyseal cupping of proximal phalanges |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0006402)
|
Distal shortening of limbs |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
29
|
(OMIM)
|
11 rib pairs in some male patients |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Poor mineralization of skull |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Hypoplasia of iliac wing (in some patients) |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Poor ossification of pubis |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Rhizomelic shortening |
|
|
|
|
12 / 7739
|
|
34
|
(OMIM)
|
Metaphyseal cupping of phalanges |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Hypoplastic calcaneus |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Metaphyseal cupping of metatarsals |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
38
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
39
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
40
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
41
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
42
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
45
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Very frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
46
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
47
|
(HPO:0004331)
|
Decreased skull ossification |
|
|
|
|
31 / 7739
|
|
48
|
(HPO:0012789)
|
Hypoplasia of the calcaneus |
|
|
|
|
1 / 7739
|