1
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
|
|
21 / 7739
|
2
|
(HPO:0000041)
|
Chordee |
|
|
|
|
11 / 7739
|
3
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
4
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
5
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
7
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
8
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
9
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
10
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
11
|
(HPO:0000612)
|
Iris coloboma |
|
|
|
|
116 / 7739
|
12
|
(HPO:0000647)
|
Sclerocornea |
|
|
|
|
25 / 7739
|
13
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
14
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
15
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
16
|
(HPO:0001331)
|
Absent septum pellucidum |
|
|
|
|
16 / 7739
|
17
|
(HPO:0001545)
|
Anteriorly placed anus |
|
|
|
|
55 / 7739
|
18
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
19
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
20
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
21
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
22
|
(HPO:0002623)
|
Overriding aorta |
|
|
|
|
8 / 7739
|
23
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
24
|
(HPO:0005152)
|
Oncocytic cardiomyopathy |
|
|
|
|
2 / 7739
|
25
|
(HPO:0006887)
|
Intellectual disability, progressive |
24% [HPO:skoehler]
|
|
|
|
68 / 7739
|
26
|
(HPO:0007398)
|
Asymmetric, linear skin defects |
|
|
|
|
1 / 7739
|
27
|
(HPO:0008665)
|
Clitoral hypertrophy |
|
|
|
|
10 / 7739
|
28
|
(HPO:0011675)
|
Arrhythmia |
|
|
|
|
226 / 7739
|
29
|
(HPO:0010459)
|
True hermaphroditism |
|
|
|
|
5 / 7739
|
30
|
(OMIM)
|
Mental retardation, mild to severe |
|
|
|
|
14 / 7739
|
31
|
(OMIM)
|
Infantile seizures |
|
|
|
|
2 / 7739
|
32
|
(OMIM)
|
Colpocephaly |
|
|
|
|
3 / 7739
|
33
|
(OMIM)
|
Distal Xp22.3 segmental monosomy |
|
|
|
|
1 / 7739
|
34
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
35
|
(HPO:0012861)
|
Ovotestis |
|
|
|
|
2 / 7739
|
36
|
(HPO:0030048)
|
Colpocephaly |
|
|
|
|
4 / 7739
|