|
1
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
2
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
3
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
4
|
(HPO:0000072)
|
Hydroureter |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
8
|
(HPO:0000834)
|
Abnormality of the adrenal glands |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
9
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
10
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
11
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
12
|
(HPO:0000047)
|
Hypospadias |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
13
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
14
|
(HPO:0000256)
|
Macrocephaly |
rare [HPO:skoehler]
|
|
|
|
298 / 7739
|
|
15
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
16
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
17
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
18
|
(HPO:0000835)
|
Adrenal hypoplasia |
|
|
|
|
23 / 7739
|
|
19
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
20
|
(HPO:0002150)
|
Hypercalciuria |
|
|
|
|
45 / 7739
|
|
21
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
22
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
23
|
(HPO:0003072)
|
Hypercalcemia |
|
|
|
|
36 / 7739
|
|
24
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
25
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
26
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|
|
27
|
(OMIM)
|
Normal |
|
|
|
|
14 / 7739
|
|
28
|
(OMIM)
|
Renal calcification (in some patients) |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0008244)
|
Congenital adrenal hypoplasia |
|
|
|
|
3 / 7739
|
|
30
|
(OMIM)
|
Adrenal crisis in neonatal period |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
32
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
33
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|