|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0000818)
|
Abnormality of the endocrine system |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
4
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
5
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
6
|
(HPO:0002758)
|
Osteoarthritis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
|
7
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
8
|
(HPO:0000691)
|
Microdontia |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
9
|
(HPO:0000592)
|
Blue sclerae |
Occasional [Orphanet]
Rare [HPO:probinson]
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0009811)
|
Abnormality of the elbow |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
12
|
(HPO:0007495)
|
Prematurely aged appearance |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
13
|
(HPO:0000929)
|
Abnormality of the skull |
Occasional [Orphanet]
|
|
|
|
53 / 7739
|
|
14
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
15
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
16
|
(HPO:0001956)
|
Truncal obesity |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
|
19
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
20
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
21
|
(HPO:0001943)
|
Hypoglycemia |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
22
|
(HPO:0000274)
|
Small face |
|
|
|
|
18 / 7739
|
|
23
|
(HPO:0001367)
|
Abnormal joint morphology |
|
|
|
|
53 / 7739
|
|
24
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
25
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
26
|
(HPO:0003026)
|
Short long bone |
|
|
|
|
51 / 7739
|
|
27
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Occasional [Orphanet]
|
|
|
|
60 / 7739
|
|
28
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
29
|
(HPO:0009924)
|
Aplasia/Hypoplasia involving the nose |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
30
|
(HPO:0012569)
|
Delayed menarche |
|
|
|
|
5 / 7739
|
|
31
|
(OMIM)
|
Delayed bone age. Markedly advanced osseous maturation for height and age. |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Acrohypoplasia. Short limbs. |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Occasionally blue sclerae. |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Target resistance to the action of GH. |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Hip degeneration. Limited elbow extensibility. |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Failure to generate somatomedin (or insulinlike growth factor, IGF1) in response to growth hormone (139250). Normal or increased levels of GH. Growth hormone receptor (GHR) defect. Low IGF1 despite normal or increased levels of GH. |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Marked short stature. Clinical hyposomatotropism. Normal body proportions in childhood. Childlike body proportions in adults. Greater deviation of stature than head size. |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0010720)
|
Abnormal hair pattern |
Occasional [Orphanet]
|
|
|
|
14 / 7739
|
|
39
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
40
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
41
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
42
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
43
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|