1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
3
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
4
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
6
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
7
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
8
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
9
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
10
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
11
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
12
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
13
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
14
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
15
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
16
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
17
|
(HPO:0000402)
|
Stenosis of the external auditory canal |
|
|
|
|
22 / 7739
|
18
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
19
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
20
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
21
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
22
|
(HPO:0000452)
|
Choanal stenosis |
|
|
|
|
23 / 7739
|
23
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
24
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
25
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
26
|
(HPO:0000547)
|
Tapetoretinal degeneration |
|
|
|
|
11 / 7739
|
27
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
28
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
29
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
30
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
31
|
(HPO:0001047)
|
Atopic dermatitis |
|
|
|
|
20 / 7739
|
32
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
33
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
34
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
35
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
36
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
37
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
38
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
39
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
40
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
|
|
26 / 7739
|
41
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
42
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
43
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
44
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
45
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
46
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
47
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
48
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
49
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
50
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
51
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
52
|
(HPO:0001845)
|
Overlapping toe |
|
|
|
|
18 / 7739
|
53
|
(HPO:0002072)
|
Chorea |
|
|
|
|
53 / 7739
|
54
|
(HPO:0002099)
|
Asthma |
|
|
|
|
62 / 7739
|
55
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
56
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
57
|
(HPO:0002188)
|
Delayed CNS myelination |
|
|
|
|
16 / 7739
|
58
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
59
|
(HPO:0002370)
|
Poor coordination |
|
|
|
|
15 / 7739
|
60
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
61
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
62
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
63
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
64
|
(HPO:0004433)
|
Secretory IgA deficiency |
|
|
|
|
2 / 7739
|
65
|
(HPO:0005111)
|
Dilatation of the ascending aorta |
|
|
|
|
3 / 7739
|
66
|
(HPO:0005134)
|
Absence of the pulmonary valve |
|
|
|
|
2 / 7739
|
67
|
(HPO:0005164)
|
Dysplastic pulmonary valve |
|
|
|
|
1 / 7739
|
68
|
(HPO:0005176)
|
Dysplastic aortic valve |
|
|
|
|
2 / 7739
|
69
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
70
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
71
|
(HPO:0010806)
|
U-Shaped upper lip vermilion |
|
|
|
|
18 / 7739
|
72
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
73
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
74
|
(OMIM)
|
Narrow biparietal diameter |
|
|
|
|
1 / 7739
|
75
|
(OMIM)
|
Congenital aural atresia |
|
|
|
|
1 / 7739
|
76
|
(OMIM)
|
Malformed earlobes |
|
|
|
|
1 / 7739
|
77
|
(OMIM)
|
Large, dysmorphic ears |
|
|
|
|
1 / 7739
|
78
|
(OMIM)
|
Short frenulum |
|
|
|
|
1 / 7739
|
79
|
(OMIM)
|
Protuberant lower lip |
|
|
|
|
1 / 7739
|
80
|
(HPO:0001627)
|
Abnormal heart morphology |
|
|
|
|
19 / 7739
|
81
|
(OMIM)
|
Prominent abdominal venous pattern |
|
|
|
|
1 / 7739
|
82
|
(OMIM)
|
Tapering digits |
|
|
|
|
1 / 7739
|
83
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
84
|
(OMIM)
|
Planovalgus |
|
|
|
|
1 / 7739
|
85
|
(OMIM)
|
Atopic eczema |
|
|
|
|
1 / 7739
|
86
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
87
|
(OMIM)
|
Cognitive function, variable |
|
|
|
|
1 / 7739
|
88
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
89
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
90
|
(OMIM)
|
Poor differentiation of gray and white matter on T2-weighted MRI |
|
|
|
|
1 / 7739
|
91
|
(HPO:0012447)
|
Abnormal myelination |
|
|
|
|
7 / 7739
|
92
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
93
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
94
|
(OMIM)
|
Selective IgA deficiency |
|
|
|
|
2 / 7739
|
95
|
(MedDRA:10052737)
|
Atopic disorders |
|
|
|
|
1 / 7739
|
96
|
(OMIM)
|
Interstitial or terminal deletion of 18q |
|
|
|
|
1 / 7739
|
97
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
98
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
99
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
100
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|
101
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|