|
1
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
2
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
5
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
6
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
8
|
(HPO:0010628)
|
Facial palsy |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
|
9
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
10
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
11
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
12
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
13
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
14
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
17
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
18
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
19
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
20
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
21
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
22
|
(HPO:0000565)
|
Esotropia |
|
|
|
|
58 / 7739
|
|
23
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
|
24
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
25
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
26
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
27
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
|
28
|
(HPO:0000916)
|
Broad clavicles |
|
|
|
|
6 / 7739
|
|
29
|
(HPO:0001133)
|
Constriction of peripheral visual field |
|
|
|
|
33 / 7739
|
|
30
|
(HPO:0001233)
|
2-3 finger syndactyly |
|
|
|
|
7 / 7739
|
|
31
|
(HPO:0001474)
|
Sclerotic scapulae |
|
|
|
|
3 / 7739
|
|
32
|
(HPO:0001548)
|
Overgrowth |
|
|
|
|
27 / 7739
|
|
33
|
(HPO:0001699)
|
Sudden death |
|
|
|
|
34 / 7739
|
|
34
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
35
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
36
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
37
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
|
|
47 / 7739
|
|
38
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
39
|
(HPO:0004097)
|
Deviation of finger |
|
|
|
|
13 / 7739
|
|
40
|
(HPO:0004576)
|
Sclerotic vertebral endplates |
|
|
|
|
3 / 7739
|
|
41
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
42
|
(HPO:0006415)
|
Cortically dense long tubular bones |
|
|
|
|
2 / 7739
|
|
43
|
(HPO:0007285)
|
Facial palsy secondary to cranial hyperostosis |
|
|
|
|
2 / 7739
|
|
44
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
45
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|