|
1
|
(HPO:0000158)
|
Macroglossia |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0000271)
|
Abnormality of the face |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
|
5
|
(HPO:0000821)
|
Hypothyroidism |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0001537)
|
Umbilical hernia |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
7
|
(HPO:0010318)
|
Aplasia/Hypoplasia of the abdominal wall musculature |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
8
|
(HPO:0002360)
|
Sleep disturbance |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
9
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
10
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
11
|
(HPO:0002019)
|
Constipation |
Very frequent [Orphanet]
|
|
|
|
194 / 7739
|
|
12
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
13
|
(HPO:0002925)
|
Thyroid-stimulating hormone excess |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0005990)
|
Thyroid hypoplasia |
|
|
|
|
21 / 7739
|
|
15
|
(OMIM)
|
Euthyroidism |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Normal sized thyroid gland |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
No goiter |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Hypothyroidism in subset of patients |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Patients with hypothyroidism have hypoplastic thyroid gland |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Absence of anti-thyroid antibodies |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Normal or mildly decreased serum levels of free thyroid hormones |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0000851)
|
Congenital hypothyroidism |
|
|
|
|
16 / 7739
|
|
25
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|