1
|
(HPO:0001706)
|
Endocardial fibroelastosis |
|
|
6105824
|
IBIS
|
20 / 7739
|
2
|
(HPO:0004306)
|
Abnormality of the endocardium |
Occasional [Orphanet]
|
|
6105824
|
IBIS
|
24 / 7739
|
3
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
6105824
|
IBIS
|
156 / 7739
|
4
|
(HPO:0001852)
|
Sandal gap |
Very frequent [Orphanet]
|
|
6105824
|
IBIS
|
63 / 7739
|
5
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
6105824
|
IBIS
|
1245 / 7739
|
6
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
6105824
|
IBIS
|
257 / 7739
|
7
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
6105824
|
IBIS
|
308 / 7739
|
8
|
(HPO:0000028)
|
Cryptorchidism |
|
|
6105824
|
IBIS
|
347 / 7739
|
9
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
6105824
|
IBIS
|
131 / 7739
|
10
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
6105824
|
IBIS
|
61 / 7739
|
11
|
(HPO:0001635)
|
Congestive heart failure |
|
|
6105824
|
IBIS
|
232 / 7739
|
12
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
6105824
|
IBIS
|
192 / 7739
|
13
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
6105824
|
IBIS
|
169 / 7739
|
14
|
(HPO:0011039)
|
Abnormality of the helix |
Very frequent [Orphanet]
|
|
6105824
|
IBIS
|
33 / 7739
|
15
|
(OMIM)
|
Hypothalamic dysfunction |
|
|
6105824
|
IBIS
|
4 / 7739
|
16
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
6105824
|
IBIS
|
296 / 7739
|
17
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Very frequent [Orphanet]
|
|
18172637
|
IBIS
|
41 / 7739
|
18
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
6105824
|
IBIS
|
394 / 7739
|
19
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
6105824
|
IBIS
|
949 / 7739
|
20
|
(HPO:0040075)
|
Hypopituitarism |
Frequent [Orphanet]
|
|
6105824
|
IBIS
|
32 / 7739
|
21
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
6105824
|
IBIS
|
328 / 7739
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
6105824
|
IBIS
|
1089 / 7739
|
23
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
6105824
|
IBIS
|
131 / 7739
|
24
|
(HPO:0002045)
|
Hypothermia |
|
|
6105824
|
IBIS
|
27 / 7739
|
25
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
23109776
|
IBIS
|
141 / 7739
|
26
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
18172637
|
IBIS
|
355 / 7739
|