1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
3
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
4
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
5
|
(HPO:0000829)
|
Hypoparathyroidism |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
6
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
7
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
9
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
10
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
11
|
(HPO:0001561)
|
Polyhydramnios |
Very frequent [Orphanet]
|
|
|
|
191 / 7739
|
12
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
13
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
14
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
15
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
16
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
17
|
(HPO:0100530)
|
Abnormality of calcium-phosphate metabolism |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
18
|
(HPO:0100540)
|
Palpebral edema |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
19
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
20
|
(HPO:0000072)
|
Hydroureter |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
21
|
(HPO:0000921)
|
Missing ribs |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
22
|
(HPO:0002536)
|
Abnormal cortical gyration |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
23
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
24
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
25
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
26
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
27
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|