|
1
|
(HPO:0001513)
|
Obesity |
Frequent [IBIS]
|
|
22626039; 22190896
|
IBIS
|
172 / 7739
|
|
2
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
|
|
22626039
|
IBIS
|
230 / 7739
|
|
3
|
(HPO:0000556)
|
Retinal dystrophy |
Frequent [IBIS]
|
|
22626039
|
IBIS
|
65 / 7739
|
|
4
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
Frequent [IBIS]
|
|
22190896
|
IBIS
|
47 / 7739
|
|
5
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
22626039; 22190896
|
IBIS
|
78 / 7739
|
|
6
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
22626039
|
IBIS
|
50 / 7739
|
|
7
|
(HPO:0002099)
|
Asthma |
|
|
22626039; 22190896
|
IBIS
|
62 / 7739
|
|
8
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
22626039
|
IBIS
|
48 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
|
|
22626039
|
IBIS
|
1232 / 7739
|
|
10
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
22626039
|
IBIS
|
75 / 7739
|
|
11
|
(HPO:0001276)
|
Hypertonia |
|
|
22626039
|
IBIS
|
317 / 7739
|
|
12
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
22626039
|
IBIS
|
250 / 7739
|
|
13
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
22190896
|
IBIS
|
25 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
22190896
|
IBIS
|
853 / 7739
|
|
15
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
22190896
|
IBIS
|
164 / 7739
|
|
16
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
22190896
|
IBIS
|
28 / 7739
|
|
17
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
22190896
|
IBIS
|
410 / 7739
|