|
1
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
3
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
6
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
|
9
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
10
|
(HPO:0012237)
|
Urocanic aciduria |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(OMIM)
|
Episodic aggression or exaggerated affection-seeking (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Urocanase deficiency |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|