1
|
(HPO:0000612)
|
Iris coloboma |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
3
|
(HPO:0000625)
|
Cleft eyelid |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
4
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
5
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
6
|
(HPO:0100867)
|
Duodenal stenosis |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
7
|
(HPO:0010488)
|
Aplasia/Hypoplasia of the palmar creases |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
8
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
9
|
(HPO:0001863)
|
Toe clinodactyly |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
10
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
11
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
12
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
13
|
(HPO:0000348)
|
High forehead |
Frequent [Orphanet]
|
|
|
|
157 / 7739
|
14
|
(HPO:0000921)
|
Missing ribs |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
15
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
16
|
(HPO:0001876)
|
Pancytopenia |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
17
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
18
|
(HPO:0001734)
|
Annular pancreas |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
19
|
(HPO:0001847)
|
Long hallux |
Frequent [Orphanet]
|
|
|
|
13 / 7739
|
20
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
21
|
(HPO:0010055)
|
Broad hallux |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
22
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
23
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
24
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
|
|
358 / 7739
|
25
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
26
|
(HPO:0004383)
|
Hypoplastic left heart |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
27
|
(HPO:0002414)
|
Spina bifida |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
28
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
29
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
30
|
(HPO:0002019)
|
Constipation |
Frequent [Orphanet]
|
|
|
|
194 / 7739
|
31
|
(HPO:0001763)
|
Pes planus |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
32
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
33
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
34
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
35
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
36
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
37
|
(HPO:0001545)
|
Anteriorly placed anus |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
38
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
39
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
40
|
(HPO:0010761)
|
Broad columella |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
41
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
42
|
(HPO:0000465)
|
Webbed neck |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
43
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
44
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
45
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
46
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
47
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
48
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
49
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
50
|
(HPO:0000964)
|
Eczema |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
51
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
52
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
53
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
54
|
(HPO:0000243)
|
Trigonocephaly |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
55
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
56
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
57
|
(HPO:0011331)
|
Hemifacial atrophy |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
58
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
59
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
60
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
61
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
62
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
63
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
64
|
(HPO:0000060)
|
Clitoral hypoplasia |
|
|
|
|
9 / 7739
|
65
|
(HPO:0000066)
|
Labial hypoplasia |
|
|
|
|
10 / 7739
|
66
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
67
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
68
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
69
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
70
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
71
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
72
|
(HPO:0000579)
|
Nasolacrimal duct obstruction |
|
|
|
|
9 / 7739
|
73
|
(HPO:0000646)
|
Amblyopia |
|
|
|
|
42 / 7739
|
74
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
75
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
76
|
(HPO:0001104)
|
Macular hypoplasia |
|
|
|
|
9 / 7739
|
77
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
78
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
79
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
80
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
81
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
82
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
83
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
84
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
85
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
86
|
(HPO:0005469)
|
Flat occiput |
|
|
|
|
30 / 7739
|
87
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
88
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
89
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
90
|
(HPO:0010806)
|
U-Shaped upper lip vermilion |
|
|
|
|
18 / 7739
|
91
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
92
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
93
|
(OMIM)
|
Iris discoloration |
|
|
|
|
1 / 7739
|
94
|
(OMIM)
|
Anomalous extraocular muscles |
|
|
|
|
1 / 7739
|
95
|
(OMIM)
|
Mild transient cherry-red spot |
|
|
|
|
1 / 7739
|
96
|
(OMIM)
|
Nonspecific granular appearance of retinal pigment epithelium |
|
|
|
|
1 / 7739
|
97
|
(OMIM)
|
Abnormal eyelashes |
|
|
|
|
1 / 7739
|
98
|
(OMIM)
|
Abnormal eyebrows |
|
|
|
|
2 / 7739
|
99
|
(OMIM)
|
Congenital nasolacrimal duct obstruction |
|
|
|
|
1 / 7739
|
100
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
101
|
(OMIM)
|
Partial deletion of long arm of chromosome 11 (11q23-qter) |
|
|
|
|
1 / 7739
|
102
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
103
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
104
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
105
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
106
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
107
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
108
|
(HPO:0000288)
|
Abnormality of the philtrum |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
109
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
110
|
(HPO:0000107)
|
Renal cyst |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
111
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
112
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Occasional [Orphanet]
|
|
|
|
57 / 7739
|
113
|
(HPO:0000492)
|
Abnormality of the eyelid |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
114
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
115
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
116
|
(HPO:0000499)
|
Abnormality of the eyelashes |
|
|
|
|
35 / 7739
|
117
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|