|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
4
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
5
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
14
|
(HPO:0001877)
|
Abnormality of erythrocytes |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0001881)
|
Abnormality of leukocytes |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
17
|
(HPO:0002162)
|
Low posterior hairline |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
20
|
(HPO:0000158)
|
Macroglossia |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
21
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
22
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
23
|
(HPO:0000598)
|
Abnormality of the ear |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
24
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
25
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
26
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
28
|
(HPO:0000230)
|
Gingivitis |
|
|
|
|
31 / 7739
|
|
29
|
(HPO:0000704)
|
Periodontitis |
|
|
|
|
24 / 7739
|
|
30
|
(HPO:0001974)
|
Leukocytosis |
Common [HPO:probinson]
|
|
|
|
33 / 7739
|
|
31
|
(HPO:0005224)
|
Rectal abscess |
|
|
|
|
10 / 7739
|
|
32
|
(HPO:0005420)
|
Recurrent gram-negative bacterial infections |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0007499)
|
Recurrent staphylococcal infections |
|
|
|
|
3 / 7739
|