1
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
2
|
(HPO:0000821)
|
Hypothyroidism |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
4
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
5
|
(HPO:0001537)
|
Umbilical hernia |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
6
|
(HPO:0002360)
|
Sleep disturbance |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
7
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
8
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
9
|
(HPO:0000158)
|
Macroglossia |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
10
|
(HPO:0000820)
|
Abnormality of the thyroid gland |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
11
|
(HPO:0005990)
|
Thyroid hypoplasia |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
12
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
13
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
14
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
15
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
16
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
17
|
(HPO:0000851)
|
Congenital hypothyroidism |
|
|
|
|
16 / 7739
|
18
|
(HPO:0000853)
|
Goiter |
|
|
|
|
39 / 7739
|
19
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
20
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
21
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
22
|
(HPO:0001615)
|
Hoarse cry |
|
|
|
|
5 / 7739
|
23
|
(HPO:0001662)
|
Bradycardia |
|
|
|
|
41 / 7739
|
24
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
25
|
(HPO:0002045)
|
Hypothermia |
|
|
|
|
27 / 7739
|
26
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
27
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
|
|
32 / 7739
|
28
|
(HPO:0002925)
|
Thyroid-stimulating hormone excess |
|
|
|
|
12 / 7739
|
29
|
(HPO:0003270)
|
Abdominal distention |
|
|
|
|
46 / 7739
|
30
|
(HPO:0004491)
|
Large posterior fontanelle |
|
|
|
|
3 / 7739
|
31
|
(HPO:0008191)
|
Thyroid agenesis |
|
|
|
|
11 / 7739
|
32
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
33
|
(HPO:0100028)
|
Ectopic thyroid |
|
|
|
|
3 / 7739
|