Symptom Information: Sort according to HPO 

1
 (HPO:0000130) Abnormality of the uterus Occasional [Orphanet] 86 / 7739
2
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
3
 (HPO:0000556) Retinal dystrophy frequent [HPO] 65 / 7739
4
 (HPO:0001539) Omphalocele Frequent [Orphanet] 6/12 [HPO] 12923867 IBIS 102 / 7739
5
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 3/6 [HPO] 12923867 IBIS 116 / 7739
6
 (HPO:0000358) Posteriorly rotated ears 7/11 [HPO] 12923867 IBIS 163 / 7739
7
 (HPO:0000369) Low-set ears common [HPO] 12923867 IBIS 372 / 7739
8
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
9
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 11/11 [HPO] 12923867 IBIS 180 / 7739
10
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 12/12 [HPO] 12923867 IBIS 644 / 7739
11
 (HPO:0000093) Proteinuria Very frequent [Orphanet] 169 / 7739
12
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 8/11 [HPO] 12923867 IBIS 328 / 7739
13
 (HPO:0000520) Proptosis Frequent [Orphanet] hallmark [HPO] 192 / 7739
14
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] hallmark [HPO] 381 / 7739
15
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
16
 (HPO:0000260) Wide anterior fontanel 9/12 [HPO] 12923867 IBIS 55 / 7739
17
 (HPO:0000256) Macrocephaly Frequent [Orphanet] 298 / 7739
18
 (HPO:0000541) Retinal detachment Frequent [Orphanet] frequent [HPO] 87 / 7739
19
 (HPO:0001537) Umbilical hernia Frequent [Orphanet] 50% [HPO] 206 / 7739
20
 (HPO:0003196) Short nose Very frequent [Orphanet] 9/11 [HPO] 12923867 IBIS 264 / 7739
21
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
22
 (HPO:0000349) Widow's peak Very frequent [Orphanet] 26 / 7739
23
 (HPO:0001250) Seizures Occasional [Orphanet] rare [HPO] 1245 / 7739
24
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] rare [HPO] 316 / 7739
25
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 5/5 [HPO] 12923867 IBIS 524 / 7739
26
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
27
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
28
 (HPO:0000775) Abnormality of the diaphragm Frequent [Orphanet] 62 / 7739
29
 (HPO:0000776) Congenital diaphragmatic hernia 9/13 [HPO] 12923867 IBIS 36 / 7739
30
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 3/13 [HPO] 12923867 IBIS 89 / 7739
31
 (HPO:0001263) Global developmental delay 4/4 [HPO] 12923867 IBIS 853 / 7739
32
 (HPO:0000272) Malar flattening 277 / 7739
33
 (HPO:0000455) Broad nasal tip hallmark [HPO] 67 / 7739
34
 (HPO:0000518) Cataract very rare [HPO] 9066882 IBIS 454 / 7739
35
 (HPO:0000529) Progressive visual loss frequent [HPO] 54 / 7739
36
 (HPO:0000813) Bicornuate uterus rare [HPO] 22 / 7739
37
 (HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
38
 (HPO:0003126) Low-molecular-weight proteinuria 100% [HPO] 7 / 7739
39
 (HPO:0005574) Non-acidotic proximal tubulopathy 100% [HPO] 2 / 7739
40
 (HPO:0007676) Hypoplasia of the iris occasional [HPO] 22 / 7739
41
 (HPO:0009110) Diaphragmatic eventration 50% [HPO] 8 / 7739
42
 (HPO:0011003) Severe Myopia 5/5 [HPO] 12923867 IBIS 31 / 7739
43
 (HPO:0011800) Midface retrusion 221 / 7739
44
 (HPO:0100876) Infra-orbital crease hallmark [HPO] 4 / 7739
45
 (OMIM) Birth weight - 50-97th percentile 1 / 7739
46
 (OMIM) Enlarged globes 1 / 7739
47
 (OMIM) Broad tip 1 / 7739
48
 (OMIM) Double superior vena cava (rare) 1 / 7739
49
 (OMIM) Pulmonary hypoplasia secondary to diaphragmatic hernia 1 / 7739
50
 (OMIM) Widened metopic suture 1 / 7739
51
 (OMIM) Urinary excretion of retinol-binding proteins (RBP) and vitamin D-binding proteins (DBP) 1 / 7739
52
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
53
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
54
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
55
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
56
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739