1
|
(HPO:0000107)
|
Renal cyst |
rare [HPO:skoehler]
|
|
|
|
126 / 7739
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
3
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
4
|
(HPO:0000488)
|
Retinopathy |
rare [HPO:skoehler]
|
|
|
|
75 / 7739
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
24360808
|
IBIS
|
459 / 7739
|
6
|
(HPO:0000528)
|
Anophthalmia |
rare [HPO:skoehler]
|
|
|
|
42 / 7739
|
7
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
24360808
|
IBIS
|
54 / 7739
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
9
|
(HPO:0001251)
|
Ataxia |
|
|
24360808
|
IBIS
|
413 / 7739
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
24360808
|
IBIS
|
990 / 7739
|
11
|
(HPO:0001263)
|
Global developmental delay |
|
|
24360808
|
IBIS
|
853 / 7739
|
12
|
(HPO:0001591)
|
Bell-shaped thorax |
rare [HPO:skoehler]
|
|
|
|
35 / 7739
|
13
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
14
|
(HPO:0002085)
|
Occipital encephalocele |
rare [HPO:skoehler]
|
|
24360808
|
IBIS
|
20 / 7739
|
15
|
(HPO:0002089)
|
Pulmonary hypoplasia |
rare [HPO:skoehler]
|
|
|
|
80 / 7739
|
16
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
17
|
(HPO:0002104)
|
Apnea |
|
|
24360808
|
IBIS
|
106 / 7739
|
18
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
19
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
20
|
(HPO:0004719)
|
Hyperechogenic kidneys |
rare [HPO:skoehler]
|
|
24360808
|
IBIS
|
10 / 7739
|
21
|
(HPO:0007291)
|
Posterior fossa cyst |
|
|
|
|
10 / 7739
|
22
|
(HPO:0009932)
|
Single naris |
rare [HPO:skoehler]
|
|
|
|
10 / 7739
|
23
|
(HPO:0011933)
|
Elongated superior cerebellar peduncle |
|
|
|
|
6 / 7739
|
24
|
(HPO:0000175)
|
Cleft palate |
|
|
24360808
|
IBIS
|
349 / 7739
|
25
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
24360808
|
IBIS
|
67 / 7739
|
26
|
(HPO:0011109)
|
Chronic sinusitis |
|
|
24360808
|
IBIS
|
17 / 7739
|
27
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
24360808
|
IBIS
|
65 / 7739
|
28
|
(HPO:0002699)
|
Abnormality of the foramen magnum |
|
|
24360808
|
IBIS
|
2 / 7739
|
29
|
(HPO:0002282)
|
Heterotopia |
|
|
24360808
|
IBIS
|
21 / 7739
|
30
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
24360808
|
IBIS
|
57 / 7739
|
31
|
(HPO:0007033)
|
Cerebellar dysplasia |
|
|
24360808
|
IBIS
|
13 / 7739
|
32
|
(HPO:0002789)
|
Tachypnea |
|
|
24360808
|
IBIS
|
48 / 7739
|
33
|
(HPO:0001250)
|
Seizures |
|
|
24360808
|
IBIS
|
1245 / 7739
|
34
|
(HPO:0000639)
|
Nystagmus |
|
|
24360808
|
IBIS
|
555 / 7739
|
35
|
(HPO:0000316)
|
Hypertelorism |
|
|
24360808
|
IBIS
|
644 / 7739
|
36
|
(HPO:0000648)
|
Optic atrophy |
|
|
24360808
|
IBIS
|
238 / 7739
|
37
|
(HPO:0002015)
|
Dysphagia |
|
|
24360808
|
IBIS
|
301 / 7739
|
38
|
(HPO:0000365)
|
Hearing impairment |
|
|
24360808
|
IBIS
|
539 / 7739
|
39
|
(HPO:0001744)
|
Splenomegaly |
|
|
24360808
|
IBIS
|
337 / 7739
|
40
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
24360808
|
IBIS
|
158 / 7739
|
41
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
24360808
|
IBIS
|
23 / 7739
|