|
1
|
(HPO:0000851)
|
Congenital hypothyroidism |
|
|
|
|
16 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
6
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
9
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
10
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
11
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
12
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0002925)
|
Thyroid-stimulating hormone excess |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0008223)
|
Compensated hypothyroidism |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Difficulty walking in childhood |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
17
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
18
|
(OMIM)
|
Hypoplasia of the thyroid gland in some patients |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Serum thyroxine may be decreased or normal |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
'Compensated hypothyroidism' with increased TSH and normal T4 |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
23
|
(HPO:0002099)
|
Asthma |
rare [HPO:skoehler]
|
|
|
|
62 / 7739
|
|
24
|
(HPO:0002360)
|
Sleep disturbance |
rare [HPO:skoehler]
|
|
|
|
113 / 7739
|
|
25
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
26
|
(HPO:0004760)
|
Congenital septal defect |
rare [HPO:skoehler]
|
|
|
|
69 / 7739
|