|
1
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000821)
|
Hypothyroidism |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
9
|
(HPO:0000851)
|
Congenital hypothyroidism |
|
|
|
|
16 / 7739
|
|
10
|
(HPO:0001264)
|
Spastic diplegia |
|
|
|
|
24 / 7739
|
|
11
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0008251)
|
Congenital goiter |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0000853)
|
Goiter |
|
|
|
|
39 / 7739
|
|
14
|
(OMIM)
|
Fetal iodine deficiency |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Maternal iodine deficiency |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|