|
1
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
|
2
|
(HPO:0000853)
|
Goiter |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0000821)
|
Hypothyroidism |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
4
|
(HPO:0002141)
|
Gait imbalance |
Occasional [Orphanet]
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0000843)
|
Hyperparathyroidism |
Occasional [Orphanet]
|
|
|
|
17 / 7739
|
|
7
|
(HPO:0002777)
|
Tracheal stenosis |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
8
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
9
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
10
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
11
|
(HPO:0008554)
|
Cochlear malformation |
|
|
|
|
5 / 7739
|
|
12
|
(HPO:0011390)
|
Morphological abnormality of the inner ear |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
14
|
(HPO:0001751)
|
Vestibular dysfunction |
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
16
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
17
|
(HPO:0002890)
|
Thyroid carcinoma |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0008223)
|
Compensated hypothyroidism |
|
|
|
|
3 / 7739
|
|
19
|
(HPO:0100031)
|
Neoplasm of the thyroid gland |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
20
|
(OMIM)
|
Euthyroid |
|
|
|
|
3 / 7739
|
|
21
|
(OMIM)
|
Hypothyroid |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Thyroid hormone organification defect |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|