1
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
2
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
3
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
5
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
6
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
7
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
8
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
9
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
10
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
11
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
12
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
14
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
15
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
16
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
18
|
(HPO:0000846)
|
Adrenal insufficiency |
|
|
|
|
24 / 7739
|
19
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
20
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
21
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
22
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
23
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
24
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
25
|
(HPO:0001080)
|
Biliary tract abnormality |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
26
|
(HPO:0002536)
|
Abnormal cortical gyration |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
27
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
28
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
29
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
30
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
31
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
32
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
33
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
34
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
35
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
36
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
37
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
38
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
39
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
40
|
(HPO:0003455)
|
Elevated long chain fatty acids |
|
|
|
|
8 / 7739
|
41
|
(HPO:0010696)
|
Polar cataract |
|
|
|
|
1 / 7739
|