|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
3
|
(HPO:0000389)
|
Chronic otitis media |
|
|
|
|
64 / 7739
|
|
4
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
|
5
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
6
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
7
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
10
|
(HPO:0001991)
|
Aplasia/Hypoplasia of toe |
|
|
|
|
2 / 7739
|
|
11
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0005819)
|
Short middle phalanx of finger |
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0010241)
|
Short proximal phalanx of finger |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
16
|
(OMIM)
|
Shortening of long bones |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0009638)
|
Short proximal phalanx of thumb |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Short middle phalanges of second through fifth fingers |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Symphalangism of middle and distal phalanges of fifth finger |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Sandal-toe gap between great and second toe |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Short and hypoplastic metatarsals and phalanges of the great toes |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Symphalangism between middle and distal phalanges of second through fifth toes |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|