|
1
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
3
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
4
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
6
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
7
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0000988)
|
Skin rash |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
11
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
12
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
13
|
(HPO:0001629)
|
Ventricular septal defect |
Frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
14
|
(HPO:0001631)
|
Atria septal defect |
Frequent [Orphanet]
|
|
|
|
274 / 7739
|
|
15
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
|
16
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
17
|
(HPO:0001873)
|
Thrombocytopenia |
Frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
18
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
19
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
20
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
21
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
22
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
23
|
(HPO:0008053)
|
Aplasia/Hypoplasia of the iris |
Frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
24
|
(HPO:0100651)
|
Type I diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
25
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
26
|
(HPO:0001396)
|
Cholestasis |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
27
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
28
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
29
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
30
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
31
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|