1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
2
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
3
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
4
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
5
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
6
|
(HPO:0000447)
|
Pear-shaped nose |
|
|
|
|
5 / 7739
|
7
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
8
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
|
|
61 / 7739
|
9
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
10
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
12
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
13
|
(HPO:0002805)
|
Accelerated bone age after puberty |
|
|
|
|
3 / 7739
|
14
|
(HPO:0003279)
|
Coxa magna |
|
|
|
|
3 / 7739
|
15
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
16
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
17
|
(HPO:0005338)
|
Sparse lateral eyebrow |
|
|
|
|
21 / 7739
|
18
|
(HPO:0005743)
|
Avascular necrosis of the capital femoral epiphysis |
|
|
|
|
17 / 7739
|
19
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
20
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
21
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
22
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
23
|
(HPO:0010259)
|
Cone-shaped epiphyses of the middle phalanges of the hand |
|
|
|
|
4 / 7739
|
24
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
25
|
(HPO:0011069)
|
Increased number of teeth |
|
|
|
|
39 / 7739
|
26
|
(OMIM)
|
Birth length normal |
|
|
|
|
15 / 7739
|
27
|
(OMIM)
|
Birth weight normal |
|
|
|
|
14 / 7739
|
28
|
(OMIM)
|
Long, flat philtrum |
|
|
|
|
5 / 7739
|
29
|
(OMIM)
|
Mild osteopenia |
|
|
|
|
3 / 7739
|
30
|
(OMIM)
|
Absence of exostoses |
|
|
|
|
1 / 7739
|
31
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
32
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
33
|
(OMIM)
|
Brachydactyly, severe |
|
|
|
|
4 / 7739
|
34
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
35
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|