1
|
(HPO:0000158)
|
Macroglossia |
Frequent [Orphanet]
|
|
|
|
119 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000185)
|
Cleft soft palate |
|
|
|
|
18 / 7739
|
4
|
(HPO:0002435)
|
Meningocele |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
6
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
7
|
(HPO:0002779)
|
Tracheomalacia |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
8
|
(HPO:0000465)
|
Webbed neck |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
9
|
(HPO:0000162)
|
Glossoptosis |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
10
|
(HPO:0002324)
|
Hydranencephaly |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
11
|
(HPO:0002132)
|
Porencephaly |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
12
|
(HPO:0002808)
|
Kyphosis |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
13
|
(HPO:0010290)
|
Short hard palate |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
14
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
15
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
16
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
17
|
(HPO:0002414)
|
Spina bifida |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
18
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
19
|
(HPO:0002475)
|
Myelomeningocele |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
20
|
(HPO:0001249)
|
Intellectual disability |
50% [HPO:probinson]
|
|
|
|
1089 / 7739
|
21
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
22
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
23
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
24
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
25
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
26
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
27
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
28
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
29
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
30
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
31
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
32
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
33
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
34
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
35
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
36
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
37
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
38
|
(HPO:0004695)
|
Calcaneal epiphyseal stippling |
|
|
|
|
1 / 7739
|
39
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
40
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
41
|
(HPO:0006593)
|
Anomalous rib insertion to vertebrae |
|
|
|
|
1 / 7739
|
42
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
43
|
(OMIM)
|
Severe micrognathia |
|
|
|
|
3 / 7739
|
44
|
(OMIM)
|
Abnormal tracheal cartilaginous ring |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Rudimentary rib |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Posterior rib gap defects |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Absent twelfth rib |
|
|
|
|
2 / 7739
|
48
|
(OMIM)
|
Sacral fusion |
|
|
|
|
1 / 7739
|
49
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
50
|
(HPO:0100736)
|
Abnormality of the soft palate |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
51
|
(HPO:0000772)
|
Abnormality of the ribs |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
52
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Frequent [Orphanet]
|
|
|
|
49 / 7739
|
53
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
|
|
275 / 7739
|
54
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
55
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
56
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
57
|
(HPO:0009466)
|
Radial deviation of finger |
Occasional [Orphanet]
|
|
|
|
101 / 7739
|
58
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
59
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
60
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
61
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
62
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
63
|
(HPO:0004468)
|
Anomalous tracheal cartilage |
|
|
|
|
2 / 7739
|