1
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
2
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
3
|
(HPO:0000085)
|
Horseshoe kidney |
rare [HPO:skoehler]
|
|
|
|
39 / 7739
|
4
|
(HPO:0000125)
|
Pelvic kidney |
rare [HPO:skoehler]
|
|
|
|
10 / 7739
|
5
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
6
|
(HPO:0000347)
|
Micrognathia |
rare [HPO:skoehler]
|
|
|
|
426 / 7739
|
7
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
8
|
(HPO:0000414)
|
Bulbous nose |
rare [HPO:skoehler]
|
|
|
|
63 / 7739
|
9
|
(HPO:0000581)
|
Blepharophimosis |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
10
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
11
|
(HPO:0001045)
|
Vitiligo |
rare [HPO:skoehler]
|
|
|
|
13 / 7739
|
12
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
13
|
(HPO:0002860)
|
Squamous cell carcinoma |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
14
|
(HPO:0002984)
|
Hypoplasia of the radius |
rare [HPO:skoehler]
|
|
|
|
44 / 7739
|
15
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
16
|
(HPO:0009658)
|
Aplasia/Hypoplasia of the phalanges of the thumb |
|
|
|
|
4 / 7739
|
17
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
|
|
|
|
80 / 7739
|
18
|
(HPO:0009777)
|
Absent thumb |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
19
|
(HPO:0009778)
|
Short thumb |
rare [HPO:skoehler]
|
|
|
|
50 / 7739
|
20
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
21
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
22
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
23
|
(OMIM)
|
Hypoplastic malleus (1 patient) |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Narrow external ear canals (1 patient) |
|
|
|
|
3 / 7739
|
25
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
26
|
(OMIM)
|
Almond-shaped eyes |
|
|
|
|
12 / 7739
|
27
|
(OMIM)
|
Hypopigmentation spots |
|
|
|
|
1 / 7739
|
28
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
29
|
(OMIM)
|
Thrombocytopenia, isolated (1 patient) |
|
|
|
|
1 / 7739
|
30
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
31
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
32
|
(HPO:0012745)
|
Short palpebral fissure |
rare [HPO:skoehler]
|
|
|
|
47 / 7739
|