|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
|
|
20 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
5
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
6
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
7
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
8
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
9
|
(HPO:0000947)
|
Dumbbell-shaped long bone |
|
|
|
|
5 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
|
13
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
14
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
|
15
|
(HPO:0010580)
|
Enlarged epiphyses |
|
|
|
|
14 / 7739
|
|
16
|
(OMIM)
|
Normal adult height |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Snub nose |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Bulbous deformity of ischial and pubic bone |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0002868)
|
Narrow iliac wings |
|
|
|
|
15 / 7739
|
|
20
|
(HPO:0003172)
|
Abnormality of the pubic bone |
|
|
|
|
5 / 7739
|
|
21
|
(OMIM)
|
Dumbbell widening of long bone metaphyses, especially femurs and humeri |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|