1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
3
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
4
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
5
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
6
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
8
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
9
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
10
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
12
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
13
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
14
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
15
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
16
|
(HPO:0002645)
|
Wormian bones |
|
|
|
|
65 / 7739
|
17
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
18
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
19
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
20
|
(HPO:0009702)
|
Carpal synostosis |
|
|
|
|
26 / 7739
|
21
|
(HPO:0010109)
|
Short hallux |
|
|
|
|
27 / 7739
|
22
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
23
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
24
|
(OMIM)
|
Low nasal root |
|
|
|
|
3 / 7739
|
25
|
(OMIM)
|
Round nasal tip |
|
|
|
|
1 / 7739
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
27
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|