1
|
(HPO:0009380)
|
Aplasia of the fingers |
Frequent [Orphanet]
|
|
|
|
51 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
3
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
4
|
(HPO:0002488)
|
Acute leukemia |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
5
|
(HPO:0001155)
|
Abnormality of the hand |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
6
|
(HPO:0100783)
|
Breast aplasia |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
7
|
(HPO:0002997)
|
Abnormality of the ulna |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
8
|
(HPO:0003063)
|
Abnormality of the humerus |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
9
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
10
|
(HPO:0002818)
|
Abnormality of the radius |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
11
|
(HPO:0001080)
|
Biliary tract abnormality |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
12
|
(HPO:0000470)
|
Short neck |
Occasional [Orphanet]
|
|
|
|
345 / 7739
|
13
|
(HPO:0004050)
|
Absent hand |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
14
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
15
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
16
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
17
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
18
|
(HPO:0009594)
|
Retinal hamartoma |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
19
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
20
|
(HPO:0001555)
|
Asymmetry of the thorax |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
21
|
(HPO:0002814)
|
Abnormality of the lower limb |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
22
|
(HPO:0000766)
|
Abnormality of the sternum |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
23
|
(HPO:0002162)
|
Low posterior hairline |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
24
|
(HPO:0100013)
|
Neoplasm of the breast |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
25
|
(HPO:0001651)
|
Dextrocardia |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
26
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
27
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
28
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
29
|
(HPO:0000769)
|
Abnormality of the breast |
|
|
|
|
5 / 7739
|
30
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
31
|
(HPO:0000902)
|
Rib fusion |
|
|
|
|
19 / 7739
|
32
|
(HPO:0000912)
|
Sprengel anomaly |
|
|
|
|
51 / 7739
|
33
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
34
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
35
|
(HPO:0004349)
|
Reduced bone mineral density |
Occasional [Orphanet]
|
|
|
|
165 / 7739
|
36
|
(HPO:0005255)
|
Absence of pectoralis minor muscle |
|
|
|
|
2 / 7739
|
37
|
(HPO:0005256)
|
Unilateral absence of pectoralis major muscle |
|
|
|
|
1 / 7739
|
38
|
(HPO:0006008)
|
Unilateral brachydactyly |
|
|
|
|
1 / 7739
|
39
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
40
|
(HPO:0006230)
|
Unilateral oligodactyly |
|
|
|
|
1 / 7739
|
41
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
42
|
(HPO:0009011)
|
Hypoplasia of serratus anterior muscle |
|
|
|
|
1 / 7739
|
43
|
(HPO:0009026)
|
Hypoplasia of latissimus dorsi muscle |
|
|
|
|
1 / 7739
|
44
|
(HPO:0030241)
|
Hypoplasia of deltoid muscle |
|
|
|
|
2 / 7739
|
45
|
(HPO:0009751)
|
Aplasia of the pectoralis major muscle |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
46
|
(HPO:0011959)
|
Unilateral hypoplasia of pectoralis major muscle |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Unilateral hypoplasia or absence of pectoralis major muscle |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Unilateral hypoplasia or absence of nipple |
|
|
|
|
1 / 7739
|
49
|
(OMIM)
|
Unilateral hypoplasia or absence of areola |
|
|
|
|
1 / 7739
|
50
|
(OMIM)
|
Unilateral absence of breast |
|
|
|
|
1 / 7739
|
51
|
(OMIM)
|
Unilateral syndactyly |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Hypoplasia of infraspinatus muscle |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Hypoplasia of supraspinatus muscle |
|
|
|
|
1 / 7739
|
54
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|