1
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
2
|
(HPO:0000238)
|
Hydrocephalus |
Very frequent [Orphanet]
|
|
|
|
278 / 7739
|
3
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
4
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
5
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
6
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
7
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
8
|
(HPO:0000768)
|
Pectus carinatum |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
9
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
10
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
11
|
(HPO:0001513)
|
Obesity |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
12
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
13
|
(HPO:0001601)
|
Laryngomalacia |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
14
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
15
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
16
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
17
|
(HPO:0002308)
|
Arnold-Chiari malformation |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
18
|
(HPO:0002974)
|
Radioulnar synostosis |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
19
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
20
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Frequent [Orphanet]
|
|
|
|
158 / 7739
|
21
|
(HPO:0004404)
|
Abnormality of the nipple |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
22
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
23
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
24
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Very frequent [Orphanet]
|
|
|
|
127 / 7739
|
25
|
(HPO:0000262)
|
Turricephaly |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
26
|
(HPO:0009933)
|
Narrow naris |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
27
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
28
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
29
|
(HPO:0000054)
|
Micropenis |
Very frequent [Orphanet]
|
|
|
|
257 / 7739
|
30
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
31
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
32
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
33
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
34
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
35
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
36
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
37
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
38
|
(HPO:0000436)
|
Abnormality of the nasal tip |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|