Symptom Information: Sort according to HPO 

1
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
2
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
3
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
4
 (HPO:0000505) Visual impairment Frequent [Orphanet] 297 / 7739
5
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
6
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
7
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
8
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
9
 (HPO:0001541) Ascites Occasional [Orphanet] 94 / 7739
10
 (HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
11
 (HPO:0001640) Cardiomegaly Occasional [Orphanet] 81 / 7739
12
 (HPO:0001873) Thrombocytopenia Occasional [Orphanet] 224 / 7739
13
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
14
 (HPO:0002014) Diarrhea Occasional [Orphanet] 225 / 7739
15
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
16
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
17
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
18
 (HPO:0002716) Lymphadenopathy Occasional [Orphanet] 129 / 7739
19
 (HPO:0002910) Elevated hepatic transaminases Occasional [Orphanet] 158 / 7739
20
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
21
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
22
 (HPO:0001396) Cholestasis Occasional [Orphanet] 136 / 7739
23
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
24
 (MedDRA:10025421) Macule Occasional [Orphanet] 55 / 7739
25
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
26
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739