|
1
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
2
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
4
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
6
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
11
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
12
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
13
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
|
14
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
15
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
16
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
17
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
18
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
19
|
(HPO:0000894)
|
Short clavicles |
|
|
|
|
30 / 7739
|
|
20
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
21
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
23
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
24
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
25
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
26
|
(HPO:0001545)
|
Anteriorly placed anus |
|
|
|
|
55 / 7739
|
|
27
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
28
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
|
29
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
30
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
31
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|
|
32
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
33
|
(HPO:0004689)
|
Short fourth metatarsal |
|
|
|
|
9 / 7739
|
|
34
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
35
|
(HPO:0010044)
|
Short 4th metacarpal |
|
|
|
|
14 / 7739
|
|
36
|
(HPO:0010537)
|
Wide cranial sutures |
|
|
|
|
21 / 7739
|
|
37
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
38
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
39
|
(OMIM)
|
Thickening of the nasal alae |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
41
|
(OMIM)
|
Thick gums |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Irregular dentition |
|
|
|
|
6 / 7739
|
|
43
|
(OMIM)
|
Respiratory difficulties due to tracheomalacia |
|
|
|
|
2 / 7739
|
|
44
|
(HPO:0002779)
|
Tracheomalacia |
|
|
|
|
26 / 7739
|
|
45
|
(OMIM)
|
Thickened skull base |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Thickened frontal bones |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Subluxation of the radial heads |
|
|
|
|
3 / 7739
|
|
48
|
(HPO:0001155)
|
Abnormality of the hand |
|
|
|
|
54 / 7739
|
|
49
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
50
|
(OMIM)
|
Flexion of the PIP joints |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Webbing of the fingers |
|
|
|
|
2 / 7739
|
|
52
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
53
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
54
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
55
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
56
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
57
|
(MedDRA:10066854)
|
Periventricular nodular heterotopia |
|
|
|
|
3 / 7739
|
|
58
|
(OMIM)
|
Subcortical band heterotopia |
|
|
|
|
6 / 7739
|
|
59
|
(OMIM)
|
Simplified gyral pattern |
|
|
|
|
11 / 7739
|