|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
|
3
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
5
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
|
6
|
(HPO:0000262)
|
Turricephaly |
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
8
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
11
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
12
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
13
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
14
|
(HPO:0000778)
|
Hypoplasia of the thymus |
|
|
|
|
13 / 7739
|
|
15
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
16
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
17
|
(HPO:0001088)
|
Brushfield spots |
|
|
|
|
8 / 7739
|
|
18
|
(HPO:0001093)
|
Optic nerve dysplasia |
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
21
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
22
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
23
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
24
|
(HPO:0001401)
|
Intrahepatic biliary dysgenesis |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
26
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
27
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
28
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
|
29
|
(HPO:0002033)
|
Poor suck |
|
|
|
|
37 / 7739
|
|
30
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
31
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
32
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
33
|
(HPO:0002764)
|
Stippled chondral calcification |
|
|
|
|
3 / 7739
|
|
34
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
35
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
36
|
(HPO:0003455)
|
Elevated long chain fatty acids |
|
|
|
|
8 / 7739
|
|
37
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
38
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
39
|
(HPO:0011039)
|
Abnormality of the helix |
|
|
|
|
33 / 7739
|
|
40
|
(HPO:0012103)
|
Abnormality of the mitochondrion |
|
|
|
|
7 / 7739
|
|
41
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
42
|
(HPO:0100540)
|
Palpebral edema |
|
|
|
|
31 / 7739
|
|
43
|
(OMIM)
|
Dolichoturricephaly |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Flat |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Round |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Elevated long chain fatty acids in plasma, fibroblasts and amniocytes |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Serum iron and iron binding capacity high |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Abnormal peroxisomes (53%) |
|
|
|
|
2 / 7739
|
|
49
|
(OMIM)
|
Pipecolic aciduria |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Serum pipecolic acid elevated |
|
|
|
|
2 / 7739
|
|
51
|
(OMIM)
|
Early death |
|
|
|
|
13 / 7739
|
|
52
|
(OMIM)
|
Mandible:Micrognathia |
|
|
|
|
1 / 7739
|
|
53
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
54
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
55
|
(OMIM)
|
Absent Moro response |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Low set |
|
|
|
|
3 / 7739
|
|
57
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|
|
58
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|