|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
4
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
5
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
6
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
7
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
8
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
9
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
11
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
12
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
15
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
16
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
17
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
|
18
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
|
19
|
(HPO:0000858)
|
Menstrual irregularities |
|
|
|
|
42 / 7739
|
|
20
|
(HPO:0000995)
|
Melanocytic nevus |
|
|
|
|
63 / 7739
|
|
21
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
23
|
(HPO:0001530)
|
Mild postnatal growth retardation |
|
|
|
|
7 / 7739
|
|
24
|
(HPO:0001847)
|
Long hallux |
|
|
|
|
13 / 7739
|
|
25
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
26
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
27
|
(HPO:0003165)
|
Elevated circulating parathyroid hormone level |
|
|
|
|
17 / 7739
|
|
28
|
(HPO:0003416)
|
Spinal canal stenosis |
|
|
|
|
28 / 7739
|
|
29
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
|
30
|
(HPO:0004490)
|
Calvarial hyperostosis |
|
|
|
|
11 / 7739
|
|
31
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
32
|
(HPO:0005616)
|
Accelerated skeletal maturation |
|
|
|
|
46 / 7739
|
|
33
|
(HPO:0005756)
|
Neonatal epiphyseal stippling |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0008450)
|
Narrow vertebral interpedicular distance |
|
|
|
|
6 / 7739
|
|
35
|
(HPO:0008479)
|
Hypoplastic vertebral bodies |
|
|
|
|
12 / 7739
|
|
36
|
(HPO:0008873)
|
Disproportionate short-limb short stature |
|
|
|
|
39 / 7739
|
|
37
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
38
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
39
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
|
40
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|