|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
4
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
5
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
6
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
7
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
8
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
9
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
10
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
11
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
13
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
14
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
|
|
37 / 7739
|
|
15
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
16
|
(OMIM)
|
Open anterior fontanel |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Tent-shaped lips |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Joint hyperlaxity |
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0001776)
|
Bilateral talipes equinovarus |
|
|
|
|
8 / 7739
|
|
20
|
(OMIM)
|
Delayed wound healing |
|
|
|
|
5 / 7739
|
|
21
|
(OMIM)
|
Atrophic scarring |
|
|
|
|
9 / 7739
|
|
22
|
(OMIM)
|
Cerebral atrophy, generalized mild |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|