|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0000478)
|
Abnormality of the eye |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
7
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
8
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
9
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
10
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
|
11
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000612)
|
Iris coloboma |
|
|
|
|
116 / 7739
|
|
14
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
15
|
(HPO:0000654)
|
Decreased light- and dark-adapted electroretinogram amplitude |
|
|
|
|
17 / 7739
|
|
16
|
(HPO:0001141)
|
Severe visual impairment |
|
|
|
|
11 / 7739
|
|
17
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
18
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
19
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
20
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
21
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
22
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
23
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
24
|
(HPO:0001864)
|
Clinodactyly of the 5th toe |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
26
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
27
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
28
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
29
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
30
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
31
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
32
|
(HPO:0003642)
|
Type I transferrin isoform profile |
|
|
|
|
16 / 7739
|
|
33
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
34
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
35
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
36
|
(HPO:0011473)
|
Villous atrophy |
|
|
|
|
14 / 7739
|
|
37
|
(HPO:0012537)
|
Food intolerance |
|
|
|
|
2 / 7739
|
|
38
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|
|
39
|
(OMIM)
|
Electroretinography (ERG) shows decreased amplitudes |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Broad, flat bridge |
|
|
|
|
1 / 7739
|
|
41
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
42
|
(OMIM)
|
Small, dysplastic nails |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0003160)
|
Abnormal isoelectric focusing of serum transferrin |
|
|
|
|
10 / 7739
|
|
44
|
(HPO:0012301)
|
Type II transferrin isoform profile |
|
|
|
|
6 / 7739
|
|
45
|
(OMIM)
|
Hypoglycosylation of plasma glycoproteins |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase deficiency |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
48
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|