1
|
(HPO:0000836)
|
Hyperthyroidism |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
2
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
7
|
(HPO:0001822)
|
Hallux valgus |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
8
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
9
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
10
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
11
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
12
|
(HPO:0001829)
|
Foot polydactyly |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
13
|
(HPO:0000520)
|
Proptosis |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
14
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
15
|
(HPO:0001636)
|
Tetralogy of Fallot |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
16
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
17
|
(HPO:0004060)
|
Trident hand |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
18
|
(HPO:0001839)
|
Split foot |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
19
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
20
|
(HPO:0001660)
|
Truncus arteriosus |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
21
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
22
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
23
|
(HPO:0001373)
|
Joint dislocation |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
24
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
25
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
26
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
27
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
28
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
29
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
30
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
31
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
32
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
33
|
(HPO:0000049)
|
Shawl scrotum |
|
|
|
|
31 / 7739
|
34
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
35
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
36
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
37
|
(HPO:0001217)
|
Clubbing |
|
|
|
|
39 / 7739
|
38
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
39
|
(HPO:0004960)
|
Absent pulmonary artery |
|
|
|
|
5 / 7739
|
40
|
(HPO:0006101)
|
Finger syndactyly |
Occasional [Orphanet]
|
|
|
|
198 / 7739
|
41
|
(HPO:0008589)
|
Hypoplastic helices |
|
|
|
|
2 / 7739
|
42
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
43
|
(OMIM)
|
Absence of the pulmonary artery |
|
|
|
|
1 / 7739
|
44
|
(HPO:0100257)
|
Ectrodactyly |
|
|
|
|
27 / 7739
|
45
|
(OMIM)
|
Clubbing of the digits |
|
|
|
|
1 / 7739
|
46
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
47
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
48
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
49
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
50
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
51
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
52
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
53
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
54
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
55
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
56
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
57
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|