1
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0002974)
|
Radioulnar synostosis |
Occasional [Orphanet]
Very rare [HPO:skoehler]
|
|
|
|
52 / 7739
|
4
|
(HPO:0005037)
|
Proximal radio-ulnar synostosis |
|
|
|
|
6 / 7739
|
5
|
(HPO:0000046)
|
Scrotal hypoplasia |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
6
|
(HPO:0004684)
|
Talipes valgus |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
7
|
(HPO:0003045)
|
Abnormality of the patella |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
8
|
(HPO:0006443)
|
Patellar aplasia |
|
|
|
|
14 / 7739
|
9
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
10
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
11
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
12
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
13
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
14
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
15
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
16
|
(HPO:0000072)
|
Hydroureter |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
17
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
18
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
19
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
20
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
21
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
22
|
(HPO:0002104)
|
Apnea |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
23
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
24
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
25
|
(HPO:0002213)
|
Fine hair |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
26
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
27
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
28
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
29
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
30
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
31
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
32
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
33
|
(HPO:0000003)
|
Multicystic kidney dysplasia |
|
|
|
|
17 / 7739
|
34
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
35
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
36
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
37
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
38
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
39
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
40
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
41
|
(HPO:0001601)
|
Laryngomalacia |
|
|
|
|
61 / 7739
|
42
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
43
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
44
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
45
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
46
|
(HPO:0002999)
|
Patellar dislocation |
|
|
|
|
46 / 7739
|
47
|
(HPO:0003175)
|
Hypoplastic ischia |
|
|
|
|
12 / 7739
|
48
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
49
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
50
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
51
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
52
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
53
|
(HPO:0007165)
|
Periventricular gray matter heterotopia |
|
|
|
|
4 / 7739
|
54
|
(HPO:0008665)
|
Clitoral hypertrophy |
|
|
|
|
10 / 7739
|
55
|
(HPO:0008694)
|
Hypertrophic labia minora |
|
|
|
|
2 / 7739
|
56
|
(HPO:0008823)
|
Hypoplastic inferior pubic rami |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Anteriorly positioned anus |
|
|
|
|
2 / 7739
|
58
|
(OMIM)
|
Hypoplastic perineum |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Hypoplasic scrotum |
|
|
|
|
1 / 7739
|
60
|
(OMIM)
|
Hip flexion deformities |
|
|
|
|
1 / 7739
|
61
|
(HPO:0003121)
|
Limb joint contracture |
|
|
|
|
8 / 7739
|
62
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
63
|
(OMIM)
|
Dimple overlying knee |
|
|
|
|
1 / 7739
|
64
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
65
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
66
|
(OMIM)
|
Colpocephaly |
|
|
|
|
3 / 7739
|
67
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
68
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
69
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
70
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
71
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
72
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
73
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
74
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
75
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
76
|
(HPO:0002803)
|
Congenital contracture |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
77
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
78
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
79
|
(HPO:0030048)
|
Colpocephaly |
|
|
|
|
4 / 7739
|