|
1
|
(HPO:0000049)
|
Shawl scrotum |
|
|
|
|
31 / 7739
|
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
3
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
7
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
8
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
13
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
14
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
17
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
18
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
19
|
(HPO:0002570)
|
Steatorrhea |
|
|
|
|
31 / 7739
|
|
20
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
|
23
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
24
|
(HPO:0100732)
|
Pancreatic fibrosis |
|
|
|
|
12 / 7739
|