1
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
3
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
4
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
5
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
6
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
7
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
8
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
9
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
10
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
11
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
13
|
(HPO:0001520)
|
Large for gestational age |
|
|
|
|
34 / 7739
|
14
|
(HPO:0002753)
|
Thin bony cortex |
|
|
|
|
16 / 7739
|
15
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
16
|
(HPO:0004634)
|
Cuboid-shaped vertebral bodies |
|
|
|
|
4 / 7739
|
17
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
18
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
19
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
20
|
(HPO:0010764)
|
Short eyelashes |
|
|
|
|
3 / 7739
|
21
|
(HPO:0200000)
|
Dysharmonic bone age |
|
|
|
|
3 / 7739
|
22
|
(OMIM)
|
Broad nasal fossae |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Prominent maxilla |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Large neck |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Single atrium |
|
|
|
|
2 / 7739
|
26
|
(OMIM)
|
Prominent trapezius muscles |
|
|
|
|
1 / 7739
|
27
|
(HPO:0005832)
|
Dysharmonic delayed bone age |
|
|
|
|
3 / 7739
|
28
|
(OMIM)
|
Long bones have thin cortices |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Polydactyly type A |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Molding disturbance of metacarpal bones |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Proximal megaepiphysis of metatarsal bones |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Hypertrophy of first ray |
|
|
|
|
1 / 7739
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|