1
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
3
|
(HPO:0000239)
|
Large fontanelles |
|
|
|
|
135 / 7739
|
4
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
5
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
6
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
7
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
8
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
9
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
10
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
12
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
13
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
14
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
15
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
16
|
(HPO:0000572)
|
Visual loss |
|
|
|
|
272 / 7739
|
17
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
18
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
19
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
20
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
67% [HPO:probinson]
|
|
|
|
36 / 7739
|
21
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
22
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
23
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
24
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
25
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
26
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
27
|
(HPO:0001396)
|
Cholestasis |
|
|
|
|
136 / 7739
|
28
|
(HPO:0002611)
|
Cholestatic liver disease |
|
|
|
|
19 / 7739
|
29
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
30
|
(HPO:0001408)
|
Bile duct proliferation |
|
|
|
|
22 / 7739
|
31
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
32
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
33
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
34
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
35
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
36
|
(HPO:0001791)
|
Fetal ascites |
|
|
|
|
4 / 7739
|
37
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
38
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
39
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
40
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
41
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
42
|
(HPO:0002171)
|
Gliosis |
|
|
|
|
48 / 7739
|
43
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
44
|
(HPO:0002539)
|
Cortical dysplasia |
|
|
|
|
19 / 7739
|
45
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
46
|
(HPO:0002832)
|
Calcific stippling |
|
|
|
|
5 / 7739
|
47
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
48
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
49
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
50
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
51
|
(HPO:0006872)
|
Cerebral hypoplasia |
45% [HPO:probinson]
|
|
|
|
7 / 7739
|
52
|
(HPO:0007058)
|
Generalized cerebral atrophy/hypoplasia |
|
|
|
|
1 / 7739
|
53
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
|
|
13 / 7739
|
54
|
(HPO:0007360)
|
Aplasia/Hypoplasia of the cerebellum |
|
|
|
|
10 / 7739
|
55
|
(HPO:0007371)
|
Corpus callosum atrophy |
|
|
|
|
14 / 7739
|
56
|
(HPO:0000835)
|
Adrenal hypoplasia |
|
|
|
|
23 / 7739
|
57
|
(HPO:0000846)
|
Adrenal insufficiency |
|
|
|
|
24 / 7739
|
58
|
(HPO:0008182)
|
Adrenocortical hypoplasia |
|
|
|
|
4 / 7739
|
59
|
(HPO:0008207)
|
Primary adrenal insufficiency |
|
|
|
|
26 / 7739
|
60
|
(HPO:0011735)
|
Adrenocorticotropin deficient adrenal insufficiency |
|
|
|
|
3 / 7739
|
61
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
62
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
63
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
64
|
(OMIM)
|
Loss of hearing (45%) |
|
|
|
|
1 / 7739
|
65
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
66
|
(OMIM)
|
Failure to fixate on objects |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Long, small thorax |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Histology shows normal numbers of peroxisomes (84%) |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Abnormal peroxisomes (53%) |
|
|
|
|
2 / 7739
|
70
|
(OMIM)
|
Absence of peroxisomes (16%) |
|
|
|
|
1 / 7739
|
71
|
(MedDRA:10016642)
|
Fibrosis |
|
|
|
|
9 / 7739
|
72
|
(HPO:0003281)
|
Increased serum ferritin |
|
|
|
|
32 / 7739
|
73
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
74
|
(OMIM)
|
Adrenal cortex atrophy (42%) |
|
|
|
|
1 / 7739
|
75
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
76
|
(OMIM)
|
Delayed psychomotor development, severe |
|
|
|
|
14 / 7739
|
77
|
(OMIM)
|
Hypoplastic/atrophic corpus callosum (55%) |
|
|
|
|
1 / 7739
|
78
|
(OMIM)
|
Heterotopic neurons in the white matter (36%) |
|
|
|
|
1 / 7739
|
79
|
(OMIM)
|
Delayed peripheral nerve motor conduction velocities (67%) |
|
|
|
|
1 / 7739
|
80
|
(OMIM)
|
Increased plasma levels of very long-chain fatty acids (VLCFA) |
|
|
|
|
2 / 7739
|
81
|
(OMIM)
|
Increased plasma levels of bile acid intermediates |
|
|
|
|
1 / 7739
|
82
|
(OMIM)
|
Decreased peroxisomal fatty acid beta-oxidation |
|
|
|
|
1 / 7739
|
83
|
(OMIM)
|
Decreased or absent D-bifunctional protein activity and protein |
|
|
|
|
2 / 7739
|
84
|
(OMIM)
|
Normal serum plasmalogen |
|
|
|
|
2 / 7739
|
85
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
86
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|