1
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
common [HPO:skoehler]
|
|
|
|
832 / 7739
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
3
|
(HPO:0000581)
|
Blepharophimosis |
Frequent [Orphanet]
|
|
|
|
197 / 7739
|
4
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
5
|
(HPO:0100585)
|
Telangiectasia of the skin |
Frequent [Orphanet]
|
|
|
|
66 / 7739
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
7
|
(HPO:0000272)
|
Malar flattening |
Very frequent [Orphanet]
|
|
|
|
277 / 7739
|
8
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
common [HPO:skoehler]
|
|
|
|
286 / 7739
|
9
|
(HPO:0000089)
|
Renal hypoplasia |
common [HPO:skoehler]
|
|
|
|
78 / 7739
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
11
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
12
|
(HPO:0000028)
|
Cryptorchidism |
occasional [HPO:skoehler]
|
|
|
|
347 / 7739
|
13
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
14
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
15
|
(HPO:0000048)
|
Bifid scrotum |
Frequent [Orphanet]
occasional [HPO:skoehler]
|
|
|
|
36 / 7739
|
16
|
(HPO:0001876)
|
Pancytopenia |
Frequent [Orphanet]
common [HPO:skoehler]
|
|
|
|
89 / 7739
|
17
|
(HPO:0000821)
|
Hypothyroidism |
Frequent [Orphanet]
occasional [HPO:skoehler]
|
|
|
|
141 / 7739
|
18
|
(HPO:0001537)
|
Umbilical hernia |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
19
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
20
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
21
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
22
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
common [HPO:skoehler]
|
|
|
|
1232 / 7739
|
23
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
common [HPO:skoehler]
|
|
|
|
232 / 7739
|
24
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
occasional [HPO:skoehler]
|
|
|
|
257 / 7739
|
25
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
26
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
27
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
28
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
29
|
(HPO:0000093)
|
Proteinuria |
common [HPO:skoehler]
|
|
|
|
169 / 7739
|
30
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
31
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
32
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
33
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
34
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
35
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
36
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
37
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
38
|
(OMIM)
|
Hearing loss, sensorineural, severe to profound |
|
|
|
|
3 / 7739
|
39
|
(OMIM)
|
Small phallus |
|
|
|
|
2 / 7739
|
40
|
(OMIM)
|
Absence of the vas deferens and epididymis (in 1 of 3 siblings) |
|
|
|
|
1 / 7739
|
41
|
(OMIM)
|
Telangiectasias |
|
|
|
|
1 / 7739
|
42
|
(OMIM)
|
Mental retardation, mild to severe |
|
|
|
|
14 / 7739
|
43
|
(HPO:0008191)
|
Thyroid agenesis |
|
|
|
|
11 / 7739
|
44
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
45
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
46
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
47
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
48
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
49
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
50
|
(HPO:0004404)
|
Abnormality of the nipple |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
51
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|