1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
3
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
4
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
6
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
7
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
8
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
9
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
10
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
11
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
12
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
13
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
14
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
15
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
16
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
17
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
18
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
19
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
20
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
21
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
22
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
23
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
24
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
25
|
(HPO:0000766)
|
Abnormality of the sternum |
|
|
|
|
31 / 7739
|
26
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
27
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
28
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
29
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
30
|
(HPO:0001212)
|
Prominent fingertip pads |
|
|
|
|
12 / 7739
|
31
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
32
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
33
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
34
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
35
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
36
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
|
|
22 / 7739
|
37
|
(HPO:0001357)
|
Plagiocephaly |
|
|
|
|
106 / 7739
|
38
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
39
|
(HPO:0001545)
|
Anteriorly placed anus |
|
|
|
|
55 / 7739
|
40
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
41
|
(HPO:0001627)
|
Abnormal heart morphology |
|
|
|
|
19 / 7739
|
42
|
(HPO:0001739)
|
Abnormality of the nasopharynx |
|
|
|
|
16 / 7739
|
43
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
44
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
45
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
|
|
51 / 7739
|
46
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
47
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
48
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
49
|
(HPO:0002236)
|
Frontal upsweep of hair |
|
|
|
|
8 / 7739
|
50
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
51
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
52
|
(HPO:0002828)
|
Multiple joint contractures |
|
|
|
|
16 / 7739
|
53
|
(HPO:0002938)
|
Lumbar hyperlordosis |
|
|
|
|
73 / 7739
|
54
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
55
|
(HPO:0005490)
|
Postnatal macrocephaly |
|
|
|
|
3 / 7739
|
56
|
(HPO:0005833)
|
Joint swelling onset late infancy |
|
|
|
|
2 / 7739
|
57
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
58
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
59
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
60
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
61
|
(HPO:0009762)
|
Facial wrinkling |
|
|
|
|
3 / 7739
|
62
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
63
|
(HPO:0010609)
|
Skin tags |
|
|
|
|
12 / 7739
|
64
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
65
|
(HPO:0011266)
|
Microtia, first degree |
|
|
|
|
4 / 7739
|
66
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
67
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
68
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
69
|
(OMIM)
|
Frontal hair upsweep |
|
|
|
|
2 / 7739
|
70
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
71
|
(OMIM)
|
Medial eyebrow flare |
|
|
|
|
2 / 7739
|
72
|
(OMIM)
|
Joint hyperlaxity |
|
|
|
|
5 / 7739
|
73
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
74
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
75
|
(OMIM)
|
Broad halluces |
|
|
|
|
12 / 7739
|
76
|
(OMIM)
|
Perianal skin tags |
|
|
|
|
1 / 7739
|
77
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
78
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
79
|
(OMIM)
|
Friendly, sociable personality |
|
|
|
|
1 / 7739
|
80
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
81
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|