|
1
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
2
|
(HPO:0100670)
|
Rough bone trabeculation |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
3
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
4
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
5
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
6
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
8
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0001629)
|
Ventricular septal defect |
Very frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
12
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
13
|
(HPO:0002514)
|
Cerebral calcification |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
14
|
(HPO:0002376)
|
Developmental regression |
|
|
|
|
74 / 7739
|
|
15
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
16
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
19
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
20
|
(HPO:0000242)
|
Parietal bossing |
|
|
|
|
11 / 7739
|
|
21
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
22
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
23
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
24
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
25
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
26
|
(HPO:0000695)
|
Natal tooth |
|
|
|
|
42 / 7739
|
|
27
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
28
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
29
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
30
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
31
|
(HPO:0001474)
|
Sclerotic scapulae |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
33
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
34
|
(HPO:0002689)
|
Absent paranasal sinuses |
|
|
|
|
4 / 7739
|
|
35
|
(HPO:0008479)
|
Hypoplastic vertebral bodies |
|
|
|
|
12 / 7739
|
|
36
|
(HPO:0002868)
|
Narrow iliac wings |
|
|
|
|
15 / 7739
|
|
37
|
(HPO:0002870)
|
Obstructive sleep apnea |
|
|
|
|
16 / 7739
|
|
38
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
39
|
(HPO:0003301)
|
Irregular vertebral endplates |
|
|
|
|
25 / 7739
|
|
40
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
41
|
(HPO:0005089)
|
Abnormal metaphyseal trabeculation |
|
|
|
|
3 / 7739
|
|
42
|
(HPO:0005452)
|
Obliteration of frontal sinuses |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0006383)
|
Progressive bowing of long bones |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0006429)
|
Broad femoral neck |
|
|
|
|
18 / 7739
|
|
45
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
|
46
|
(HPO:0007209)
|
Facial paralysis |
|
|
|
|
8 / 7739
|
|
47
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
|
48
|
(HPO:0011349)
|
Abducens palsy |
|
|
|
|
7 / 7739
|
|
49
|
(OMIM)
|
Narrow chin |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Poorly calcified teeth |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Sclerotic ribs |
|
|
|
|
2 / 7739
|
|
52
|
(OMIM)
|
Short, widened ribs |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Sclerotic clavicles |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Short, thick sternum |
|
|
|
|
1 / 7739
|
|
55
|
(OMIM)
|
Skull base sclerosis |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Periorbital sclerosis |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Widened intervertebral spaces |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Dense vertebral bodies |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Pronounced anterior notches |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Epimetaphyseal sclerosis |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Radiolucent metaphyses |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Short, thick diaphyses |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Sclerotic carpals |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Red-violet macular atrophy |
|
|
|
|
1 / 7739
|
|
65
|
(HPO:0008065)
|
Aplasia/Hypoplasia of the skin |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
66
|
(HPO:0100543)
|
Cognitive impairment |
Very frequent [Orphanet]
|
|
|
|
230 / 7739
|
|
67
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
68
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
69
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
70
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
|
71
|
(HPO:0000879)
|
Short sternum |
|
|
|
|
16 / 7739
|
|
72
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
|
73
|
(HPO:0000941)
|
Short diaphyses |
|
|
|
|
3 / 7739
|
|
74
|
(HPO:0002688)
|
Absent frontal sinuses |
|
|
|
|
12 / 7739
|
|
75
|
(HPO:0002694)
|
Sclerosis of skull base |
|
|
|
|
10 / 7739
|
|
76
|
(HPO:0004054)
|
Sclerosis of hand bone |
|
|
|
|
1 / 7739
|
|
77
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
|
78
|
(HPO:0005019)
|
Diaphyseal thickening |
|
|
|
|
4 / 7739
|
|
79
|
(HPO:0030320)
|
Increased intervertebral space |
|
|
|
|
1 / 7739
|
|
80
|
(HPO:0100923)
|
Clavicular sclerosis |
|
|
|
|
3 / 7739
|