|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
4
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
5
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
8
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
12
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
13
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
14
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
15
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
16
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
17
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
20
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
21
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
22
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
23
|
(HPO:0002236)
|
Frontal upsweep of hair |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
25
|
(HPO:0002943)
|
Thoracic scoliosis |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
27
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
28
|
(HPO:0005676)
|
Rudimentary postaxial polydactyly of hands |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
30
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
31
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
|
|
|
|
36 / 7739
|
|
32
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
33
|
(OMIM)
|
Small palpebral fissures |
|
|
|
|
6 / 7739
|
|
34
|
(OMIM)
|
Irregularly placed teeth |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Cranial bone defects |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Limited joint flexion |
|
|
|
|
2 / 7739
|
|
37
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
38
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
41
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
42
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|
|
43
|
(HPO:0045025)
|
Narrow palpebral fissure |
|
|
|
|
8 / 7739
|