Symptom Information: Sort according to HPO 

1
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
4
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
5
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
6
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
7
 (HPO:0000992) Cutaneous photosensitivity Frequent [Orphanet] 75 / 7739
8
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
9
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
10
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
11
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
12
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
13
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739
14
 (HPO:0002514) Cerebral calcification Very frequent [Orphanet] 89 / 7739
15
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
16
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
17
 (HPO:0005487) Prominent metopic ridge Very frequent [Orphanet] 28 / 7739
18
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
19
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] 206 / 7739
20
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
21
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
22
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
23
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
24
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
25
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
26
 (HPO:0000510) Rod-cone dystrophy Occasional [Orphanet] 266 / 7739
27
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
28
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
29
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
30
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
31
 (HPO:0000159) Abnormality of the lip Very frequent [Orphanet] 33 / 7739
32
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
33
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
34
 (HPO:0002803) Congenital contracture Very frequent [Orphanet] 45 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (HPO:0000340) Sloping forehead 86 / 7739
37
 (HPO:0000343) Long philtrum 262 / 7739
38
 (HPO:0000347) Micrognathia 426 / 7739
39
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
40
 (HPO:0000426) Prominent nasal bridge 121 / 7739
41
 (HPO:0000490) Deeply set eye 131 / 7739
42
 (HPO:0000568) Microphthalmia 183 / 7739
43
 (HPO:0000581) Blepharophimosis 197 / 7739
44
 (HPO:0000639) Nystagmus 555 / 7739
45
 (HPO:0000939) Osteoporosis 129 / 7739
46
 (HPO:0001007) Hirsutism 91 / 7739
47
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
48
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
49
 (HPO:0001508) Failure to thrive 454 / 7739
50
 (HPO:0001838) Rocker bottom foot 85 / 7739
51
 (HPO:0002171) Gliosis 48 / 7739
52
 (HPO:0002187) Intellectual disability, profound 44 / 7739
53
 (HPO:0002673) Coxa valga 57 / 7739
54
 (HPO:0002751) Kyphoscoliosis 131 / 7739
55
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
56
 (HPO:0002987) Elbow flexion contracture 64 / 7739
57
 (HPO:0003819) Death in childhood 42 / 7739
58
 (HPO:0004681) Deep longitudinal plantar crease 3 / 7739
59
 (HPO:0006380) Knee flexion contracture 56 / 7739
60
 (HPO:0006610) Wide intermamillary distance 46 / 7739
61
 (HPO:0008125) Second metatarsal posteriorly placed 2 / 7739
62
 (HPO:0009473) Joint contracture of the hand 84 / 7739
63
 (HPO:0012385) Camptodactyly 113 / 7739
64
 (HPO:0012448) Delayed myelination 51 / 7739