|
1
|
(HPO:0000130)
|
Abnormality of the uterus |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
3
|
(HPO:0009553)
|
Abnormality of the hairline |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0002000)
|
Short columella |
|
|
|
|
11 / 7739
|
|
5
|
(HPO:0001537)
|
Umbilical hernia |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
6
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0001629)
|
Ventricular septal defect |
Very frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
9
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
10
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
11
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
12
|
(HPO:0009796)
|
Branchial cyst |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
13
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
14
|
(HPO:0001176)
|
Large hands |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
15
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
16
|
(HPO:0000341)
|
Narrow forehead |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0000137)
|
Abnormality of the ovary |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
18
|
(HPO:0000069)
|
Abnormality of the ureter |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
19
|
(HPO:0000133)
|
Gonadal dysgenesis |
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
21
|
(HPO:0000288)
|
Abnormality of the philtrum |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
22
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
23
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
24
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|
|
25
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
26
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
27
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
28
|
(HPO:0010884)
|
Acromelia |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Developmental delay, mild |
|
|
|
|
8 / 7739
|
|
30
|
(OMIM)
|
Ectodermal defects |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Punched out scalp defects |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Unusual position of hair whorls |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Peculiar facies |
|
|
|
|
7 / 7739
|
|
34
|
(OMIM)
|
Small nares |
|
|
|
|
3 / 7739
|
|
35
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
36
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
37
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
38
|
(HPO:0000204)
|
Cleft upper lip |
Frequent [Orphanet]
|
|
|
|
193 / 7739
|
|
39
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
40
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
41
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
42
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
43
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|