|
1
|
(HPO:0002823)
|
Abnormality of the femur |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0002002)
|
Deep philtrum |
Frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
4
|
(HPO:0001903)
|
Anemia |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
9
|
(HPO:0002992)
|
Abnormality of the tibia |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
10
|
(HPO:0001061)
|
Acne |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
11
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
12
|
(HPO:0001051)
|
Seborrheic dermatitis |
|
|
|
|
25 / 7739
|
|
13
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
14
|
(HPO:0002212)
|
Curly hair |
|
|
|
|
21 / 7739
|
|
15
|
(HPO:0002234)
|
Early balding |
|
|
|
|
2 / 7739
|
|
16
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
17
|
(HPO:0011967)
|
Hypocupremia |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Blond curly hair |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Thin habitus |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Spurring of femurs and tibias |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Normal ceruloplasmin levels |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
? Defective intestinal absorption of copper |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Anemia, mild |
|
|
|
|
6 / 7739
|
|
24
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
25
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|