|
1
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
2
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
3
|
(HPO:0000853)
|
Goiter |
|
|
|
|
39 / 7739
|
|
4
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
5
|
(HPO:0002930)
|
Thyroid hormone receptor defect |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0010655)
|
Epiphyseal stippling |
|
|
|
|
32 / 7739
|
|
7
|
(OMIM)
|
Thyroid hormone receptor-beta gene (THR1) deletion |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Clinical euthyroidism |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Abnormally high PBI |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Elevated blood thyroid hormones |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Elevated thyrotropin |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Normal response to thyrotropin-releasing hormone |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|