|
1
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
2
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
3
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
4
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0004298)
|
Abnormality of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
|
6
|
(HPO:0002488)
|
Acute leukemia |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
|
7
|
(HPO:0002577)
|
Abnormality of the stomach |
Occasional [Orphanet]
|
|
|
|
84 / 7739
|
|
8
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
9
|
(HPO:0010788)
|
Testicular neoplasm |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
|
10
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
11
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
12
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
|
13
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
14
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
15
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
16
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
17
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
18
|
(HPO:0002664)
|
Neoplasm |
|
|
|
|
111 / 7739
|
|
19
|
(HPO:0004408)
|
Abnormality of the sense of smell |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
20
|
(HPO:0007431)
|
Congenital ichthyosiform erythroderma |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
22
|
(OMIM)
|
Corneal opacities on slit-lamp examination |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Vision is usually not affected |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Skin lesions are usually symmetrical |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Lesions occur mainly on extremities, scalp, neck, and trunk |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Sparing of flexure areas, palms, and soles |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Lesions are often brownish colored |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Increased risk of testicular cancer |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Protracted delivery |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Pregnant mothers of affected children have decreased plasma and urinary estrogen |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Decreased or absent steroid sulfatase activity |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
33
|
(HPO:0000481)
|
Abnormality of the cornea |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
34
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
35
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
36
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
37
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
38
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|