|
1
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
4
|
(HPO:0000965)
|
Cutis marmorata |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
5
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
Occasional [Orphanet]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0001362)
|
Calvarial skull defect |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
9
|
(HPO:0001394)
|
Cirrhosis |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
10
|
(HPO:0001409)
|
Portal hypertension |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
11
|
(HPO:0001541)
|
Ascites |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
12
|
(HPO:0001596)
|
Alopecia |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
13
|
(HPO:0001622)
|
Premature birth |
Occasional [Orphanet]
|
|
|
|
100 / 7739
|
|
14
|
(HPO:0001636)
|
Tetralogy of Fallot |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
15
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
16
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
17
|
(HPO:0001882)
|
Leukopenia |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
18
|
(HPO:0002040)
|
Esophageal varix |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
|
19
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
20
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
|
21
|
(HPO:0002132)
|
Porencephaly |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
22
|
(HPO:0002239)
|
Gastrointestinal hemorrhage |
Occasional [Orphanet]
|
|
|
|
97 / 7739
|
|
23
|
(HPO:0002353)
|
EEG abnormality |
Occasional [Orphanet]
|
|
|
|
188 / 7739
|
|
24
|
(HPO:0002612)
|
Congenital hepatic fibrosis |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
|
25
|
(HPO:0004050)
|
Absent hand |
Very frequent [Orphanet]
|
|
|
|
9 / 7739
|
|
26
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
27
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
28
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
29
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
30
|
(HPO:0009882)
|
Short distal phalanx of finger |
Frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
31
|
(HPO:0001762)
|
Talipes equinovarus |
Frequent [Orphanet]
|
|
|
|
309 / 7739
|
|
32
|
(HPO:0011301)
|
Absent foot |
Very frequent [Orphanet]
|
|
|
|
4 / 7739
|
|
33
|
(HPO:0004060)
|
Trident hand |
Frequent [Orphanet]
|
|
|
|
13 / 7739
|
|
34
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
35
|
(HPO:0002814)
|
Abnormality of the lower limb |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
36
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
37
|
(HPO:0040064)
|
Abnormality of limbs |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
38
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
39
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
40
|
(HPO:0001804)
|
Hypoplastic fingernail |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
|
41
|
(HPO:0001800)
|
Hypoplastic toenails |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
|
42
|
(HPO:0040065)
|
Abnormal morphology of bones of the upper limbs |
Very frequent [Orphanet]
|
|
|
|
25 / 7739
|
|
43
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
44
|
(HPO:0001167)
|
Abnormality of finger |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
45
|
(HPO:0002624)
|
Venous abnormality |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
|
46
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
47
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
48
|
(HPO:0000119)
|
Abnormality of the genitourinary system |
|
|
|
|
34 / 7739
|
|
49
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
50
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
51
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
52
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
53
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
54
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
55
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
56
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
57
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
58
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
59
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
60
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
61
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
62
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
|
63
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
|
64
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
65
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
66
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
67
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
68
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|
|
69
|
(HPO:0002558)
|
Supernumerary nipple |
|
|
|
|
40 / 7739
|
|
70
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
71
|
(HPO:0004415)
|
Pulmonary artery stenosis |
|
|
|
|
25 / 7739
|
|
72
|
(HPO:0006970)
|
Periventricular leukomalacia |
|
|
|
|
7 / 7739
|
|
73
|
(HPO:0007589)
|
Aplasia cutis congenita on trunk or limbs |
|
|
|
|
2 / 7739
|
|
74
|
(HPO:0007590)
|
Aplasia cutis congenita over posterior parietal area |
|
|
|
|
2 / 7739
|