1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
1956062
|
IBIS
|
832 / 7739
|
2
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
10544231
|
IBIS
|
85 / 7739
|
3
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
1956062
|
IBIS
|
288 / 7739
|
4
|
(HPO:0001852)
|
Sandal gap |
Frequent [Orphanet]
|
|
1956062
|
IBIS
|
63 / 7739
|
5
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
10544231
|
IBIS
|
1245 / 7739
|
6
|
(HPO:0001511)
|
Intrauterine growth retardation |
Occasional [Orphanet]
|
|
1956062
|
IBIS
|
358 / 7739
|
7
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
1956062
|
IBIS
|
1232 / 7739
|
8
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
10544231
|
IBIS
|
316 / 7739
|
9
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
10544231
|
IBIS
|
308 / 7739
|
10
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
10544231
|
IBIS
|
266 / 7739
|
11
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
1956062
|
IBIS
|
141 / 7739
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
1956062
|
IBIS
|
1089 / 7739
|
13
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
1956062
|
IBIS
|
253 / 7739
|
14
|
(HPO:0000340)
|
Sloping forehead |
Occasional [Orphanet]
|
|
10544231
|
IBIS
|
86 / 7739
|
15
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
10544231
|
IBIS
|
949 / 7739
|
16
|
(HPO:0001638)
|
Cardiomyopathy |
Very frequent [Orphanet]
|
|
10544231
|
IBIS
|
192 / 7739
|
17
|
(HPO:0040075)
|
Hypopituitarism |
|
|
20402073
|
IBIS
|
32 / 7739
|
18
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
20402073
|
IBIS
|
328 / 7739
|
19
|
(HPO:0000369)
|
Low-set ears |
|
|
20402073
|
IBIS
|
372 / 7739
|
20
|
(HPO:0002025)
|
Anal stenosis |
|
|
20402073
|
IBIS
|
23 / 7739
|
21
|
(HPO:0001635)
|
Congestive heart failure |
|
|
10544231
|
IBIS
|
232 / 7739
|
22
|
(HPO:0012664)
|
Reduced ejection fraction |
|
|
10544231
|
IBIS
|
32 / 7739
|
23
|
(HPO:0001640)
|
Cardiomegaly |
|
|
10544231
|
IBIS
|
81 / 7739
|
24
|
(HPO:0001847)
|
Long hallux |
|
|
10544231
|
IBIS
|
13 / 7739
|
25
|
(HPO:0002360)
|
Sleep disturbance |
|
|
10544231
|
IBIS
|
113 / 7739
|
26
|
(HPO:0012166)
|
Skin-picking |
|
|
10544231
|
IBIS
|
1 / 7739
|
27
|
(HPO:0000646)
|
Amblyopia |
|
|
10544231
|
IBIS
|
42 / 7739
|