1
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
3
|
(HPO:0002488)
|
Acute leukemia |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
4
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
5
|
(HPO:0000691)
|
Microdontia |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
6
|
(HPO:0001161)
|
Hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
7
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [Orphanet]
|
|
|
|
355 / 7739
|
8
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
9
|
(HPO:0001654)
|
Abnormality of the heart valves |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
10
|
(HPO:0010285)
|
Oral synechia |
Frequent [Orphanet]
|
|
|
|
31 / 7739
|
11
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
12
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
13
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
14
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
15
|
(HPO:0000039)
|
Epispadias |
|
|
|
|
7 / 7739
|
16
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
17
|
(HPO:0000233)
|
Thin vermilion border |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
18
|
(HPO:0002857)
|
Genu valgum |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
19
|
(HPO:0001595)
|
Abnormality of the hair |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
20
|
(HPO:0001631)
|
Atria septal defect |
Very frequent [Orphanet]
|
|
|
|
274 / 7739
|
21
|
(HPO:0001829)
|
Foot polydactyly |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
22
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
23
|
(HPO:0000888)
|
Horizontal ribs |
|
|
|
|
12 / 7739
|
24
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
25
|
(HPO:0002967)
|
Cubitus valgus |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
26
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
27
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
28
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
29
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
30
|
(HPO:0005561)
|
Abnormality of bone marrow cell morphology |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
31
|
(HPO:0000684)
|
Delayed eruption of teeth |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
32
|
(HPO:0005048)
|
Synostosis of carpal bones |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
33
|
(HPO:0002097)
|
Emphysema |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
34
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
35
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
36
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
37
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
38
|
(HPO:0006695)
|
Atrioventricular canal defect |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
39
|
(HPO:0001651)
|
Dextrocardia |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
40
|
(HPO:0001249)
|
Intellectual disability |
Occasional [HPO:probinson]
|
|
|
|
1089 / 7739
|
41
|
(HPO:0002750)
|
Delayed skeletal maturation |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
42
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
43
|
(HPO:0000695)
|
Natal tooth |
|
|
|
|
42 / 7739
|
44
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
45
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
46
|
(HPO:0001241)
|
Capitate-hamate fusion |
|
|
|
|
6 / 7739
|
47
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
48
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
49
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
50
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
|
|
37 / 7739
|
51
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
52
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
53
|
(HPO:0006035)
|
Cone-shaped epiphyses of phalanges 2 to 5 |
|
|
|
|
1 / 7739
|
54
|
(HPO:0006477)
|
Abnormality of the alveolar ridges |
|
|
|
|
1 / 7739
|
55
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
56
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
57
|
(HPO:0008921)
|
Neonatal short-limb short stature |
|
|
|
|
12 / 7739
|
58
|
(OMIM)
|
Average adult height, 109 to 152 cm |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Normocephaly |
|
|
|
|
10 / 7739
|
60
|
(OMIM)
|
Normal with exception of upper-lip defect |
|
|
|
|
1 / 7739
|
61
|
(OMIM)
|
Partial cleft lip |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Single atrium |
|
|
|
|
2 / 7739
|
63
|
(OMIM)
|
Other congenital heart defects |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Short, poorly developed ribs |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Low iliac wings |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Spur-like projections at medialateral aspect of acetabula |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Centrifugal shortening of limbs |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Short, thickened tubular bones |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Difficulty forming a fist |
|
|
|
|
1 / 7739
|
70
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
71
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
72
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
73
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
74
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
75
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
76
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
77
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
78
|
(HPO:0000077)
|
Abnormality of the kidney |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
79
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
80
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
81
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
82
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
83
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
84
|
(HPO:0010454)
|
Acetabular spurs |
|
|
|
|
4 / 7739
|
85
|
(HPO:0011565)
|
Common atrium |
|
|
|
|
2 / 7739
|