|
1
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
3
|
(HPO:0010958)
|
Bilateral renal agenesis |
|
|
|
|
16 / 7739
|
|
4
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
|
5
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
8
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
9
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
10
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
11
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
12
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
13
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
14
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
15
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
16
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
17
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
20
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
21
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
22
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
23
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
24
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
25
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
26
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
27
|
(HPO:0001714)
|
Ventricular hypertrophy |
|
|
|
|
20 / 7739
|
|
28
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
|
29
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
161 / 7739
|
|
30
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
31
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
32
|
(HPO:0004935)
|
Pulmonary artery atresia |
|
|
|
|
12 / 7739
|
|
33
|
(HPO:0010806)
|
U-Shaped upper lip vermilion |
|
|
|
|
18 / 7739
|
|
34
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
35
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
36
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
37
|
(OMIM)
|
Asymmetric shortening of long bones (radius, fibula, tibia) |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Long digits |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Short first digits |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
|
41
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
42
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|