1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
2
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
3
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
4
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
5
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
7
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
8
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
9
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
10
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
11
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
12
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
13
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
14
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
16
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
17
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
|
|
79 / 7739
|
18
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
19
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
20
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
21
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
22
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
23
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
24
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
25
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
26
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
27
|
(HPO:0002678)
|
Skull asymmetry |
|
|
|
|
4 / 7739
|
28
|
(HPO:0010808)
|
Protruding tongue |
|
|
|
|
28 / 7739
|
29
|
(HPO:0001525)
|
Severe failure to thrive |
|
|
|
|
13 / 7739
|
30
|
(OMIM)
|
Prominent alveolar ridge |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Optic disc abnormalities |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Thin vermilion |
|
|
|
|
3 / 7739
|
33
|
(OMIM)
|
Atrioventricular defect |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Genital ambiguity |
|
|
|
|
1 / 7739
|
35
|
(OMIM)
|
Hypertrophy of the labia |
|
|
|
|
1 / 7739
|
36
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
37
|
(OMIM)
|
Drumstick fingers |
|
|
|
|
1 / 7739
|
38
|
(OMIM)
|
Toenail hypoplasia |
|
|
|
|
1 / 7739
|
39
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
40
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|