|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
6
|
(HPO:0000402)
|
Stenosis of the external auditory canal |
|
|
|
|
22 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
9
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
10
|
(HPO:0000890)
|
Long clavicles |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
12
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
13
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
14
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
|
|
17 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
16
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
17
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
18
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0001714)
|
Ventricular hypertrophy |
|
|
|
|
20 / 7739
|
|
20
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
21
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
22
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
23
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
|
24
|
(HPO:0002245)
|
Meckel diverticulum |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0002529)
|
Neuronal loss in central nervous system |
|
|
|
|
37 / 7739
|
|
26
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
27
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
28
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
29
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
30
|
(HPO:0005043)
|
Proximal humeral metaphyseal irregularity |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
|
32
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
33
|
(HPO:0005716)
|
Lethal skeletal dysplasia |
|
|
|
|
6 / 7739
|
|
34
|
(HPO:0006157)
|
Prominent palmar flexion creases |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0007100)
|
Progressive ventriculomegaly |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
37
|
(HPO:0008452)
|
Wafer-thin platyspondyly |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
|
39
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
40
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
|
41
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
42
|
(OMIM)
|
Short upturned nose |
|
|
|
|
6 / 7739
|
|
43
|
(OMIM)
|
Wide sacrosciatic notch |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Trident configuration of acetabular roof |
|
|
|
|
1 / 7739
|
|
45
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
46
|
(OMIM)
|
Fragile scalp hair |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Progressive CNS degeneration |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Small cerebellum |
|
|
|
|
6 / 7739
|
|
49
|
(HPO:0012444)
|
Brain atrophy |
|
|
|
|
24 / 7739
|
|
50
|
(OMIM)
|
Encephalomyelopathy |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Diffuse, severe neuronal loss |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Generalized myelin loss |
|
|
|
|
1 / 7739
|
|
53
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
54
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|