|
1
|
(HPO:0000821)
|
Hypothyroidism |
|
|
|
|
141 / 7739
|
|
2
|
(HPO:0000839)
|
Pituitary dwarfism |
|
|
|
|
7 / 7739
|
|
3
|
(HPO:0000846)
|
Adrenal insufficiency |
|
|
|
|
24 / 7739
|
|
4
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
5
|
(HPO:0003799)
|
Marked delay in bone age |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
7
|
(HPO:0008850)
|
Severe postnatal growth retardation |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0010538)
|
Small sella turcica |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
10
|
(OMIM)
|
Very small sella turcica (some) |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Abnormal petrous bone |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0008191)
|
Thyroid agenesis |
|
|
|
|
11 / 7739
|
|
13
|
(OMIM)
|
Low or absent growth hormone (GH) |
|
|
|
|
5 / 7739
|
|
14
|
(OMIM)
|
Low or absent thyroid-stimulating hormone (TSH) |
|
|
|
|
4 / 7739
|
|
15
|
(OMIM)
|
Low or absent luteinizing hormone (LH) |
|
|
|
|
4 / 7739
|
|
16
|
(OMIM)
|
Low or absent follicle stimulating hormone (FSH) |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Low or absent adrenocorticotropic hormone (ACTH) |
|
|
|
|
3 / 7739
|
|
18
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|