1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
2
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
3
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
4
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
6
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
7
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
8
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
9
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
10
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
11
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
12
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
13
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
14
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
15
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
16
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
17
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
19
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
20
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
21
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
22
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
23
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
24
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
25
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
26
|
(HPO:0001582)
|
Redundant skin |
|
|
|
|
51 / 7739
|
27
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
28
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
29
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
30
|
(HPO:0002208)
|
Coarse hair |
|
|
|
|
58 / 7739
|
31
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
32
|
(HPO:0003160)
|
Abnormal isoelectric focusing of serum transferrin |
|
|
|
|
10 / 7739
|
33
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
34
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
35
|
(HPO:0009125)
|
Lipodystrophy |
|
|
|
|
54 / 7739
|
36
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
37
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|