1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
2
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
3
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
4
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
5
|
(HPO:0000062)
|
Ambiguous genitalia |
|
|
|
|
74 / 7739
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
7
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
8
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
9
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
11
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
12
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
13
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
14
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
15
|
(HPO:0000835)
|
Adrenal hypoplasia |
|
|
|
|
23 / 7739
|
16
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
17
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
18
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
|
|
17 / 7739
|
19
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
20
|
(HPO:0000914)
|
Shield chest |
|
|
|
|
14 / 7739
|
21
|
(HPO:0001552)
|
Barrel-shaped chest |
|
|
|
|
31 / 7739
|
22
|
(HPO:0001852)
|
Sandal gap |
|
|
|
|
63 / 7739
|
23
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
24
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
25
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
26
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
|
|
|
|
180 / 7739
|
27
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
28
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
29
|
(OMIM)
|
Small, sunken eyes |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Fused eyelids |
|
|
|
|
2 / 7739
|
31
|
(OMIM)
|
Unfused urogenital folds |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Dilated cystic tubules |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Hip abduction |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Shortened upper limbs |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Bowing of the forearms |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Widened proximal metaphyses of the femur and tibia |
|
|
|
|
1 / 7739
|
37
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
38
|
(OMIM)
|
Pituitary agenesis |
|
|
|
|
3 / 7739
|
39
|
(OMIM)
|
Cortical malformation |
|
|
|
|
2 / 7739
|
40
|
(OMIM)
|
Hypoplastic pituitary gland |
|
|
|
|
1 / 7739
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
42
|
(HPO:0030260)
|
Microphallus |
|
|
|
|
6 / 7739
|