Symptom Information: Sort according to HPO 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
3
 (HPO:0000613) Photophobia Frequent [Orphanet] 158 / 7739
4
 (HPO:0009380) Aplasia of the fingers Frequent [Orphanet] 51 / 7739
5
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
6
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
7
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
8
 (HPO:0002289) Alopecia universalis 20 / 7739
9
 (HPO:0002353) EEG abnormality Frequent [Orphanet] 188 / 7739
10
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
11
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
12
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
13
 (HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
14
 (HPO:0008064) Ichthyosis Frequent [Orphanet] 108 / 7739
15
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
16
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
17
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
18
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
19
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
20
 (HPO:0003468) Abnormality of the vertebrae Frequent [Orphanet] 77 / 7739
21
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
22
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
23
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
24
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
25
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
26
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
28
 (HPO:0010864) Intellectual disability, severe 120 / 7739