1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
12784304
|
IBIS
|
832 / 7739
|
2
|
(HPO:0000298)
|
Mask-like facies |
Very frequent [Orphanet]
|
|
12784304
|
IBIS
|
44 / 7739
|
3
|
(HPO:0000307)
|
Pointed chin |
Very frequent [Orphanet]
|
|
12784304
|
IBIS
|
45 / 7739
|
4
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
9259985
|
IBIS
|
157 / 7739
|
5
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
9259985
|
IBIS
|
290 / 7739
|
6
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
12784304
|
IBIS
|
305 / 7739
|
7
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Very frequent [Orphanet]
|
|
12784304
|
IBIS
|
185 / 7739
|
8
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
9259985
|
IBIS
|
162 / 7739
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
9259985
|
IBIS
|
990 / 7739
|
10
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
12784304
|
IBIS
|
160 / 7739
|
11
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
12784304
|
IBIS
|
366 / 7739
|
12
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
12784304
|
IBIS
|
1232 / 7739
|
13
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
Frequent [Orphanet]
|
|
12784304
|
IBIS
|
75 / 7739
|
14
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
9259985
|
IBIS
|
308 / 7739
|
15
|
(HPO:0002299)
|
Brittle hair |
Frequent [Orphanet]
|
|
12784304
|
IBIS
|
52 / 7739
|
16
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
12784304
|
IBIS
|
219 / 7739
|
17
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
9259985
|
IBIS
|
492 / 7739
|
18
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
9259985
|
IBIS
|
949 / 7739
|
19
|
(HPO:0001263)
|
Global developmental delay |
|
|
9259985
|
IBIS
|
853 / 7739
|
20
|
(HPO:0001413)
|
Micronodular cirrhosis |
|
|
9259985
|
IBIS
|
11 / 7739
|
21
|
(HPO:0008167)
|
Very long chain fatty acid accumulation |
|
|
9259985
|
IBIS
|
5 / 7739
|
22
|
(HPO:0001508)
|
Failure to thrive |
|
|
9259985
|
IBIS
|
454 / 7739
|
23
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
9259985
|
IBIS
|
78 / 7739
|
24
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
9259985
|
IBIS
|
169 / 7739
|
25
|
(HPO:0002003)
|
Large forehead |
|
|
9259985
|
IBIS
|
9 / 7739
|
26
|
(HPO:0000316)
|
Hypertelorism |
|
|
9259985
|
IBIS
|
644 / 7739
|
27
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
9259985
|
IBIS
|
55 / 7739
|
28
|
(HPO:0008468)
|
Abnormal sacral segmentation |
|
|
9259985
|
IBIS
|
2 / 7739
|
29
|
(HPO:0010769)
|
Pilonidal sinus |
|
|
9259985
|
IBIS
|
35 / 7739
|
30
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
9259985
|
IBIS
|
67 / 7739
|
31
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
9259985
|
IBIS
|
524 / 7739
|
32
|
(HPO:0002371)
|
Loss of speech |
|
|
9259985
|
IBIS
|
15 / 7739
|
33
|
(HPO:0001945)
|
Fever |
|
|
9259985
|
IBIS
|
218 / 7739
|
34
|
(HPO:0002317)
|
Unsteady gait |
|
|
9259985
|
IBIS
|
45 / 7739
|
35
|
(HPO:0006957)
|
Loss of ability to walk |
|
|
9259985
|
IBIS
|
7 / 7739
|
36
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
9259985
|
IBIS
|
27 / 7739
|
37
|
(HPO:0002180)
|
Neurodegeneration |
|
|
9259985
|
IBIS
|
31 / 7739
|
38
|
(HPO:0000369)
|
Low-set ears |
|
|
9259985
|
IBIS
|
372 / 7739
|
39
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
9259985
|
IBIS
|
38 / 7739
|
40
|
(HPO:0000286)
|
Epicanthus |
|
|
9259985
|
IBIS
|
371 / 7739
|
41
|
(HPO:0007598)
|
Bilateral single transverse palmar creases |
|
|
9259985
|
IBIS
|
13 / 7739
|
42
|
(HPO:0001276)
|
Hypertonia |
|
|
9259985
|
IBIS
|
317 / 7739
|
43
|
(HPO:0001098)
|
Abnormality of the fundus |
|
|
9259985
|
IBIS
|
2 / 7739
|
44
|
(HPO:0000512)
|
Abnormal electroretinogram |
|
|
9259985
|
IBIS
|
61 / 7739
|
45
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
9259985
|
IBIS
|
73 / 7739
|
46
|
(HPO:0002198)
|
Dilated fourth ventricle |
|
|
9259985
|
IBIS
|
12 / 7739
|
47
|
(HPO:0007082)
|
Dilated third ventricle |
|
|
9259985
|
IBIS
|
3 / 7739
|
48
|
(HPO:0002415)
|
Leukodystrophy |
|
|
9259985
|
IBIS
|
30 / 7739
|
49
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
9259985
|
IBIS
|
96 / 7739
|
50
|
(HPO:0004466)
|
Prolonged brainstem auditory evoked potentials |
|
|
9259985
|
IBIS
|
3 / 7739
|
51
|
(HPO:0002376)
|
Developmental regression |
|
|
9259985
|
IBIS
|
74 / 7739
|
52
|
(HPO:0001371)
|
Flexion contracture |
|
|
9259985
|
IBIS
|
220 / 7739
|
53
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
9259985
|
IBIS
|
77 / 7739
|
54
|
(HPO:0001522)
|
Death in infancy |
|
|
12784304
|
IBIS
|
275 / 7739
|
55
|
(HPO:0000347)
|
Micrognathia |
|
|
12784304
|
IBIS
|
426 / 7739
|
56
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
12784304
|
IBIS
|
48 / 7739
|
57
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
12784304
|
IBIS
|
212 / 7739
|
58
|
(HPO:0002151)
|
Increased serum lactate |
|
|
12784304
|
IBIS
|
92 / 7739
|
59
|
(HPO:0003215)
|
Dicarboxylic aciduria |
|
|
12784304
|
IBIS
|
7 / 7739
|
60
|
(HPO:0008316)
|
Abnormal mitochondria in muscle tissue |
|
|
12784304
|
IBIS
|
5 / 7739
|
61
|
(HPO:0001761)
|
Pes cavus |
|
|
12784304
|
IBIS
|
225 / 7739
|