1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
2
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
4
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
5
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
6
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
8
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
9
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
10
|
(HPO:0000637)
|
Long palpebral fissure |
|
|
|
|
21 / 7739
|
11
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
12
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
13
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
15
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
16
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
17
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
18
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
19
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
20
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
21
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
22
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
23
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
24
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
25
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
26
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
27
|
(OMIM)
|
Small brainstem |
|
|
|
|
4 / 7739
|
28
|
(OMIM)
|
Small cerebellum |
|
|
|
|
6 / 7739
|
29
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
30
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
31
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
32
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
33
|
(HPO:0012110)
|
Hypoplasia of the pons |
|
|
|
|
16 / 7739
|