|
1
|
(HPO:0007441)
|
Hyperpigmented/hypopigmented macules |
Very frequent [IBIS]
|
|
25474346
|
IBIS
|
6 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Occasional [IBIS]
|
|
25288164
|
IBIS
|
1232 / 7739
|
|
3
|
(HPO:0005101)
|
High-frequency hearing impairment |
Occasional [IBIS]
|
|
25288164
|
IBIS
|
16 / 7739
|
|
4
|
(HPO:0001877)
|
Abnormality of erythrocytes |
Occasional [IBIS]
|
|
25288164
|
IBIS
|
18 / 7739
|
|
5
|
(HPO:0001872)
|
Abnormality of thrombocytes |
Occasional [IBIS]
|
|
25288164
|
IBIS
|
20 / 7739
|
|
6
|
(HPO:0004365)
|
Abnormality of tryptophan metabolism |
Occasional [IBIS]
|
|
25288164
|
IBIS
|
4 / 7739
|
|
7
|
(HPO:0000501)
|
Glaucoma |
Occasional [IBIS]
|
|
25288164
|
IBIS
|
180 / 7739
|
|
8
|
(HPO:0000518)
|
Cataract |
Occasional [IBIS]
|
|
25288164
|
IBIS
|
454 / 7739
|
|
9
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
Occasional [IBIS]
|
|
25288164
|
IBIS
|
96 / 7739
|
|
10
|
(HPO:0005585)
|
Spotty hyperpigmentation |
|
|
25474346
|
IBIS
|
8 / 7739
|
|
11
|
(HPO:0005590)
|
Spotty hypopigmentation |
|
|
25474346
|
IBIS
|
10 / 7739
|
|
12
|
(HPO:0001070)
|
Mottled pigmentation |
|
|
25474346
|
IBIS
|
8 / 7739
|
|
13
|
(HPO:0007384)
|
Aberrant melanosome maturation |
|
|
25474346
|
IBIS
|
4 / 7739
|
|
14
|
(HPO:0008404)
|
Nail dystrophy |
|
|
24320734
|
IBIS
|
89 / 7739
|
|
15
|
(HPO:0007439)
|
Generalized keratosis follicularis |
|
|
21382285
|
IBIS
|
4 / 7739
|
|
16
|
(HPO:0100669)
|
Abnormal pigmentation of the oral mucosa |
|
|
12372090
|
IBIS
|
7 / 7739
|