|
1
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
|
3
|
(HPO:0000851)
|
Congenital hypothyroidism |
|
|
|
|
16 / 7739
|
|
4
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
5
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
6
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
7
|
(HPO:0001539)
|
Omphalocele |
|
|
|
|
102 / 7739
|
|
8
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
9
|
(HPO:0002329)
|
Drowsiness |
|
|
|
|
19 / 7739
|
|
10
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
11
|
(HPO:0002930)
|
Thyroid hormone receptor defect |
|
|
|
|
5 / 7739
|
|
12
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
13
|
(HPO:0012559)
|
Increased T3/T4 ratio |
|
|
22168587
|
IBIS
|
2 / 7739
|
|
14
|
(OMIM)
|
Growth deficit affecting lower segment of body |
|
|
|
|
1 / 7739
|
|
15
|
(MedDRA:10005897)
|
Body mass index increased |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Low resting heart rate |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Low resting blood pressure |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Dilated bowel |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Delayed intestinal transit |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Delayed fusion of cranial sutures |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Patent anterior fontanel |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Multiple wormian bones |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Absence of hip ossification centers |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Decreased subischial leg length with normal sitting height |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Femoral epiphyseal dysgenesis |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Mild hypermobility and ligamentous laxity at knee and ankle |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Reduced muscle tone but normal power |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Impairment of gross and fine motor coordination |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Slow reactions |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Difficulty with writing and drawing |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Slow, broad-based gait |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Slow deep tendon reflexes |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Placid affect |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Slow, monotonous speech |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Decreased basal metabolic rate |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Total and free thyroxine low-normal or subnormal |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Total and free triiodothyronine high-normal or elevated |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Total thyroxine to total triiodothyronine ratio markedly low |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Free thyroxine to free triiodothyronine ratio markedly low |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Thyroid stimulating hormone normal |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Thyroxine-binding globulin normal |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Sex-hormone binding globulin markedly elevated |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Normal growth hormone response to provocative testing |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Insulin-like growth factor slightly low |
|
|
|
|
1 / 7739
|
|
45
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
46
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
47
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|