1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
3
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
4
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
5
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
6
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
7
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
8
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
9
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
10
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
11
|
(HPO:0000969)
|
Edema |
|
|
|
|
117 / 7739
|
12
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
14
|
(HPO:0001831)
|
Short toe |
|
|
|
|
52 / 7739
|
15
|
(HPO:0002283)
|
Global brain atrophy |
|
|
|
|
12 / 7739
|
16
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
17
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
|
|
25 / 7739
|
18
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
19
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
20
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
21
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
22
|
(OMIM)
|
Simple ear structure |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Hearing loss, perceptive |
|
|
|
|
3 / 7739
|
24
|
(OMIM)
|
Almond-shaped eyes |
|
|
|
|
12 / 7739
|
25
|
(OMIM)
|
Hypoplasia of the alae nasi |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Poor enamel |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Generalized shortening of the long bones |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Broad metaphyses |
|
|
|
|
2 / 7739
|
29
|
(OMIM)
|
Short hands and fingers |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Edema on the dorsum of the hands and feet |
|
|
|
|
1 / 7739
|
31
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
32
|
(OMIM)
|
Egg allergy |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Dog allergy |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Nut allergy |
|
|
|
|
1 / 7739
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|