|
1
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
4
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
6
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
7
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
8
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
9
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
10
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
11
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
12
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
13
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
15
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
16
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
|
17
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
18
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
20
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
21
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
22
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
23
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
24
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
25
|
(HPO:0004681)
|
Deep longitudinal plantar crease |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
27
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
28
|
(HPO:0008125)
|
Second metatarsal posteriorly placed |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
30
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
|
31
|
(OMIM)
|
Normal or decreased birth weight |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Large ear pinnae |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
34
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
35
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
36
|
(OMIM)
|
Upper lip overlaps lower lip |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Shallow acetabular angle |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Lack of motor development |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
|
40
|
(OMIM)
|
Optic tract and chiasm hypoplasia |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Focal microgyria |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0012469)
|
Infantile spasms |
|
|
|
|
18 / 7739
|
|
43
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
44
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
45
|
(OMIM)
|
Subcortical gliosis |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Third ventricle subependymal focal gliosis |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Fibroblasts show hypersensitivity to UV irradiation due to defect in transcription-coupled nucleotide excision repair (TC-NER) |
|
|
|
|
1 / 7739
|