Symptom Information: Sort according to HPO 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
3
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
4
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
5
 (HPO:0000482) Microcornea Very frequent [Orphanet] 102 / 7739
6
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
7
 (HPO:0000649) Abnormality of visual evoked potentials Frequent [Orphanet] 34 / 7739
8
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
9
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
10
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
11
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
12
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
13
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
14
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
15
 (HPO:0003196) Short nose Very frequent [Orphanet] 264 / 7739
16
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
17
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
18
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
19
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 180 / 7739
20
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
21
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
22
 (HPO:0100542) Abnormal localization of kidney Occasional [Orphanet] 64 / 7739
23
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
24
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
25
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
26
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
27
 (HPO:0000072) Hydroureter Occasional [Orphanet] 146 / 7739
28
 (HPO:0002536) Abnormal cortical gyration Very frequent [Orphanet] 72 / 7739
29
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
30
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
31
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
32
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
33
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
34
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
35
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
36
 (HPO:0012815) Hypoplastic female external genitalia Frequent [Orphanet] 36 / 7739
37
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
38
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
39
 (HPO:0011362) Abnormal hair quantity Frequent [Orphanet] 92 / 7739
40
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
41
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
42
 (HPO:0000028) Cryptorchidism 347 / 7739
43
 (HPO:0000347) Micrognathia 426 / 7739
44
 (HPO:0000400) Macrotia 108 / 7739
45
 (HPO:0000490) Deeply set eye 131 / 7739
46
 (HPO:0000508) Ptosis 459 / 7739
47
 (HPO:0000519) Congenital cataract 73 / 7739
48
 (HPO:0000568) Microphthalmia 183 / 7739
49
 (HPO:0000648) Optic atrophy 238 / 7739
50
 (HPO:0000939) Osteoporosis 129 / 7739
51
 (HPO:0001249) Intellectual disability 1089 / 7739
52
 (HPO:0001264) Spastic diplegia 24 / 7739
53
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
54
 (HPO:0001347) Hyperreflexia 363 / 7739
55
 (HPO:0001382) Joint hypermobility rare [HPO:skoehler] 231 / 7739
56
 (HPO:0001508) Failure to thrive 454 / 7739
57
 (HPO:0001845) Overlapping toe rare [HPO:skoehler] 18 / 7739
58
 (HPO:0002059) Cerebral atrophy 171 / 7739
59
 (HPO:0002219) Facial hypertrichosis 8 / 7739
60
 (HPO:0002751) Kyphoscoliosis 131 / 7739
61
 (HPO:0003241) External genital hypoplasia 25 / 7739