|
1
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
2
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
3
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
4
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
5
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
6
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001272)
|
Cerebellar atrophy |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0002057)
|
Prominent glabella |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
|
13
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
|
14
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
15
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
16
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
17
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
18
|
(HPO:0002850)
|
IgM deficiency |
|
|
|
|
18 / 7739
|
|
19
|
(HPO:0004315)
|
IgG deficiency |
|
|
|
|
38 / 7739
|
|
20
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
21
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
|
22
|
(HPO:0009830)
|
Peripheral neuropathy |
rare [HPO:skoehler]
|
|
|
|
206 / 7739
|
|
23
|
(OMIM)
|
Cerebellar atrophy, mild |
|
|
|
|
4 / 7739
|
|
24
|
(OMIM)
|
Decreased IgG |
|
|
|
|
5 / 7739
|
|
25
|
(OMIM)
|
Decreased IgA, plasma and secretory |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|