1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
3
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
4
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
5
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
7
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
8
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
9
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
10
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
11
|
(HPO:0000629)
|
Periorbital fullness |
|
|
|
|
13 / 7739
|
12
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
13
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
15
|
(HPO:0001538)
|
Protuberant abdomen |
|
|
|
|
36 / 7739
|
16
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
17
|
(HPO:0001847)
|
Long hallux |
|
|
|
|
13 / 7739
|
18
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
19
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
20
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
21
|
(HPO:0002230)
|
Generalized hirsutism |
|
|
|
|
32 / 7739
|
22
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
23
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
24
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
25
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
26
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
27
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
28
|
(HPO:0010535)
|
Sleep apnea |
|
|
|
|
24 / 7739
|
29
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
30
|
(OMIM)
|
Normal growth |
|
|
|
|
2 / 7739
|
31
|
(OMIM)
|
Long smooth philtrum |
|
|
|
|
9 / 7739
|
32
|
(OMIM)
|
2,3 toe syndactyly |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Elevated urinary free sialic acid (N-acetylneuraminic acid) |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Elevated fibroblast free sialic acid |
|
|
|
|
1 / 7739
|
35
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|