|
1
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
4
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0008213)
|
Gonadotropin deficiency |
|
|
|
|
6 / 7739
|
|
7
|
(HPO:0010627)
|
Anterior pituitary hypoplasia |
|
|
|
|
6 / 7739
|
|
8
|
(OMIM)
|
Deafness, sensorineural, variable |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Short neck with limited rotation |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Anterior pituitary enlargement |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Low or absent growth hormone (GH) |
|
|
|
|
5 / 7739
|
|
12
|
(OMIM)
|
Low or absent thyroid-stimulating hormone (TSH) |
|
|
|
|
4 / 7739
|
|
13
|
(OMIM)
|
Low or absent follicle stimulating hormone (FSH) |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
Low or absent luteinizing hormone (LH) |
|
|
|
|
4 / 7739
|
|
15
|
(OMIM)
|
Low or absent prolactin (PL) |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Low or absent adrenocorticotropic hormone (ACTH) in some patients |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0040075)
|
Hypopituitarism |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
18
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0000839)
|
Pituitary dwarfism |
|
|
|
|
7 / 7739
|