|
1
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
3
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
4
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
5
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
8
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
9
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
10
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
11
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
12
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
14
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
15
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
16
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|
|
17
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
18
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
19
|
(HPO:0000822)
|
Hypertension |
variable [HPO:skoehler]
|
|
|
|
224 / 7739
|
|
20
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
21
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
|
22
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
23
|
(HPO:0002084)
|
Encephalocele |
|
|
|
|
70 / 7739
|
|
24
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
25
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
26
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
27
|
(OMIM)
|
Tall forehead |
|
|
|
|
4 / 7739
|
|
28
|
(OMIM)
|
Morning glory disc anomaly (1 family) |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
30
|
(OMIM)
|
Abnormal breathing pattern |
|
|
|
|
8 / 7739
|
|
31
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
32
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
33
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
34
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
35
|
(OMIM)
|
Delayed psychomotor development, severe to profound |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
|
37
|
(OMIM)
|
Posterior fossa abnormalities |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Small midbrain |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0006817)
|
Aplasia/Hypoplasia of the cerebellar vermis |
|
|
|
|
15 / 7739
|
|
40
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|