Symptom Information: Sort according to HPO 

1
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
2
 (HPO:0000246) Sinusitis Very frequent [Orphanet] 73 / 7739
3
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
4
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
5
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
6
 (HPO:0000649) Abnormality of visual evoked potentials Very frequent [Orphanet] 34 / 7739
7
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
8
 (HPO:0000772) Abnormality of the ribs Very frequent [Orphanet] 146 / 7739
9
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
10
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
11
 (HPO:0000978) Bruising susceptibility Very frequent [Orphanet] 123 / 7739
12
 (HPO:0000980) Pallor Very frequent [Orphanet] 52 / 7739
13
 (HPO:0001337) Tremor Very frequent [Orphanet] 200 / 7739
14
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
15
 (HPO:0001641) Abnormality of the pulmonary valve Occasional [Orphanet] 27 / 7739
16
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
17
 (HPO:0001903) Anemia Very frequent [Orphanet] 289 / 7739
18
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
19
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
20
 (HPO:0002148) Hypophosphatemia Occasional [Orphanet] 43 / 7739
21
 (HPO:0002205) Recurrent respiratory infections Very frequent [Orphanet] 254 / 7739
22
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
23
 (HPO:0002653) Bone pain Very frequent [Orphanet] 75 / 7739
24
 (HPO:0002716) Lymphadenopathy Very frequent [Orphanet] 129 / 7739
25
 (HPO:0002901) Hypocalcemia Occasional [Orphanet] 56 / 7739
26
 (HPO:0003202) Skeletal muscle atrophy Frequent [Orphanet] 281 / 7739
27
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
28
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
29
 (HPO:0006323) Premature loss of primary teeth Very frequent [Orphanet] 18 / 7739
30
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
31
 (HPO:0006824) Cranial nerve paralysis Occasional [Orphanet] 81 / 7739
32
 (HPO:0010628) Facial palsy 146 / 7739
33
 (HPO:0010719) Abnormality of hair texture Very frequent [Orphanet] 24 / 7739
34
 (HPO:0011001) Increased bone mineral density Very frequent [Orphanet] 78 / 7739
35
 (HPO:0011002) Osteopetrosis 19 / 7739
36
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
37
 (HPO:0001939) Abnormality of metabolism/homeostasis Very frequent [Orphanet] 328 / 7739
38
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
39
 (HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
40
 (HPO:0001945) Fever Very frequent [Orphanet] 218 / 7739
41
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
42
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
43
 (HPO:0012795) Abnormality of the optic disc Very frequent [Orphanet] 187 / 7739
44
 (HPO:0004414) Abnormality of the pulmonary artery Occasional [Orphanet] 50 / 7739
45
 (HPO:0001933) Subcutaneous hemorrhage Very frequent [Orphanet] 50 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
47
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
48
 (HPO:0000597) Ophthalmoparesis 71 / 7739
49
 (HPO:0000618) Blindness 124 / 7739
50
 (HPO:0000648) Optic atrophy 238 / 7739
51
 (HPO:0000670) Carious teeth 145 / 7739
52
 (HPO:0001250) Seizures 1245 / 7739
53
 (HPO:0001281) Tetany 20 / 7739
54
 (HPO:0001508) Failure to thrive 454 / 7739
55
 (HPO:0001876) Pancytopenia 89 / 7739
56
 (HPO:0002007) Frontal bossing 366 / 7739
57
 (HPO:0002754) Osteomyelitis 37 / 7739
58
 (HPO:0002756) Pathologic fracture 30 / 7739
59
 (HPO:0002812) Coxa vara 58 / 7739
60
 (HPO:0003015) Flared metaphysis 44 / 7739
61
 (HPO:0003155) Elevated alkaline phosphatase 52 / 7739
62
 (HPO:0004618) Sandwich appearance of vertebral bodies 2 / 7739
63
 (HPO:0007209) Facial paralysis 8 / 7739