|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
|
6
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
7
|
(HPO:0001507)
|
Growth abnormality |
|
|
|
|
36 / 7739
|
|
8
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
9
|
(HPO:0002925)
|
Thyroid-stimulating hormone excess |
|
|
|
|
12 / 7739
|
|
10
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
|
11
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
12
|
(OMIM)
|
Normal linear growth |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Normal intellect |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Hard, confluent skin lesions resembling juvenile hyaline fibromatosis |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
16
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
17
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
18
|
(HPO:0000460)
|
Narrow nose |
|
|
|
|
14 / 7739
|
|
19
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
20
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
21
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
22
|
(HPO:0002645)
|
Wormian bones |
rare [HPO:skoehler]
|
|
|
|
65 / 7739
|
|
23
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
|
24
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
25
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
26
|
(HPO:0010539)
|
Thin calvarium |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
28
|
(HPO:0100578)
|
Lipoatrophy |
|
|
|
|
30 / 7739
|