|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
5
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
8
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
9
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
11
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
13
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
14
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
15
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
16
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
17
|
(HPO:0001531)
|
Failure to thrive in infancy |
|
|
|
|
26 / 7739
|
|
18
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
19
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
20
|
(HPO:0002353)
|
EEG abnormality |
|
|
|
|
188 / 7739
|
|
21
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
22
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
23
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
24
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
25
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
26
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
27
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
28
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
29
|
(HPO:0005458)
|
Premature closure of fontanelles |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0005830)
|
Flexion contracture of toe |
|
|
|
|
9 / 7739
|
|
31
|
(HPO:0007633)
|
Bilateral microphthalmos |
|
|
|
|
13 / 7739
|
|
32
|
(HPO:0009879)
|
Cortical gyral simplification |
|
|
|
|
24 / 7739
|
|
33
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
34
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
35
|
(OMIM)
|
Premature closure of fontanels |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Sloping acetabulae |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
38
|
(OMIM)
|
Stiff limbs |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Simplified gyral pattern |
|
|
|
|
11 / 7739
|
|
40
|
(OMIM)
|
Patient cells show a defect in transcription-coupled and global genome nucleotide excision repair |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Early death |
|
|
|
|
13 / 7739
|
|
42
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
43
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
44
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
45
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|