1
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
23157991
|
IBIS
|
832 / 7739
|
2
|
(HPO:0000717)
|
Autism |
Frequent [Orphanet]
|
|
23921282; 17092471
|
IBIS
|
108 / 7739
|
3
|
(HPO:0000964)
|
Eczema |
Frequent [Orphanet]
|
|
9888332
|
IBIS
|
81 / 7739
|
4
|
(HPO:0000976)
|
Eczematoid dermatitis |
Frequent [Orphanet]
typical [HPO]
|
|
24206931
|
IBIS
|
22 / 7739
|
5
|
(HPO:0001047)
|
Atopic dermatitis |
Frequent [Orphanet]
typical [HPO]
|
|
19718821
|
IBIS
|
20 / 7739
|
6
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
23157991
|
IBIS
|
1245 / 7739
|
7
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
17092471
|
IBIS
|
317 / 7739
|
8
|
(HPO:0001337)
|
Tremor |
Frequent [Orphanet]
|
|
15995796
|
IBIS
|
200 / 7739
|
9
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
10067268
|
IBIS
|
363 / 7739
|
10
|
(HPO:0002354)
|
Memory impairment |
Frequent [Orphanet]
|
|
23157991
|
IBIS
|
63 / 7739
|
11
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
3344778
|
IBIS
|
89 / 7739
|
12
|
(HPO:0003355)
|
Aminoaciduria |
Very frequent [Orphanet]
|
|
24140048
|
IBIS
|
65 / 7739
|
13
|
(HPO:0005599)
|
Hypopigmentation of hair |
Very frequent [Orphanet]
|
|
17607414; 25228517
|
IBIS
|
38 / 7739
|
14
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
Frequent [Orphanet]
|
|
24140048
|
IBIS
|
56 / 7739
|
15
|
(HPO:0100543)
|
Cognitive impairment |
|
|
24385074
|
IBIS
|
230 / 7739
|
16
|
(HPO:0100679)
|
Lack of skin elasticity |
Occasional [Orphanet]
|
|
9870203
|
IBIS
|
29 / 7739
|
17
|
(HPO:0000718)
|
Aggressive behavior |
Occasional [Orphanet]
occasional [HPO]
|
|
23157991
|
IBIS
|
109 / 7739
|
18
|
(HPO:0000742)
|
Self-mutilation |
Occasional [Orphanet]
occasional [HPO]
|
|
17607414
|
IBIS
|
27 / 7739
|
19
|
(HPO:0100716)
|
Self-injurious behavior |
Occasional [Orphanet]
|
|
12955819; 17607414
|
IBIS
|
43 / 7739
|
20
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
24385074
|
IBIS
|
45 / 7739
|
21
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
24140048
|
IBIS
|
140 / 7739
|
22
|
(HPO:0000716)
|
Depression |
Frequent [Orphanet]
|
|
24385074
|
IBIS
|
99 / 7739
|
23
|
(HPO:0000737)
|
Irritability |
Frequent [Orphanet]
|
|
23157991
|
IBIS
|
93 / 7739
|
24
|
(HPO:0000739)
|
Anxiety |
Frequent [Orphanet]
|
|
24385074
|
IBIS
|
67 / 7739
|
25
|
(HPO:0000741)
|
Apathy |
Frequent [Orphanet]
|
|
23748994
|
IBIS
|
42 / 7739
|
26
|
(HPO:0001257)
|
Spasticity |
Frequent [Orphanet]
|
|
17092471
|
IBIS
|
251 / 7739
|
27
|
(HPO:0002063)
|
Rigidity |
Frequent [Orphanet]
|
|
11552030
|
IBIS
|
92 / 7739
|
28
|
(HPO:0002121)
|
Absence seizures |
Frequent [Orphanet]
|
|
25014052
|
IBIS
|
62 / 7739
|
29
|
(HPO:0002133)
|
Status epilepticus |
Frequent [Orphanet]
|
|
25014052
|
IBIS
|
59 / 7739
|
30
|
(HPO:0011097)
|
Epileptic spasms |
Frequent [Orphanet]
|
|
25417060
|
IBIS
|
45 / 7739
|
31
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
24206931; 7564227
|
IBIS
|
219 / 7739
|
32
|
(HPO:0002209)
|
Sparse scalp hair |
Very frequent [Orphanet]
|
|
18759785
|
IBIS
|
59 / 7739
|
33
|
(HPO:0012088)
|
Abnormal urinary odor |
Very frequent [Orphanet]
|
|
6616835
|
IBIS
|
1 / 7739
|
34
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
24385074
|
IBIS
|
212 / 7739
|
35
|
(HPO:0001249)
|
Intellectual disability |
Very frequent [Orphanet]
|
|
24385074
|
IBIS
|
1089 / 7739
|
36
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [Orphanet]
|
|
24385074
|
IBIS
|
853 / 7739
|
37
|
(HPO:0001270)
|
Motor delay |
Very frequent [Orphanet]
|
|
17092471
|
IBIS
|
322 / 7739
|
38
|
(HPO:0001328)
|
Specific learning disability |
Very frequent [Orphanet]
|
|
23157991
|
IBIS
|
114 / 7739
|
39
|
(HPO:0004920)
|
Phenylpyruvic acidemia |
hallmark
|
|
24140048
|
IBIS
|
3 / 7739
|
40
|
(HPO:0011203)
|
EEG with abnormally slow frequencies |
|
|
24140048
|
IBIS
|
1 / 7739
|
41
|
(HPO:0004466)
|
Prolonged brainstem auditory evoked potentials |
|
|
24140048
|
IBIS
|
3 / 7739
|
42
|
(HPO:0001051)
|
Seborrheic dermatitis |
|
|
9888332
|
IBIS
|
25 / 7739
|
43
|
(HPO:0000486)
|
Strabismus |
|
|
15995796
|
IBIS
|
576 / 7739
|
44
|
(HPO:0002312)
|
Clumsiness |
|
|
15995796
|
IBIS
|
28 / 7739
|
45
|
(HPO:0007266)
|
Cerebral dysmyelination |
|
|
20971365; 17931123
|
IBIS
|
13 / 7739
|
46
|
(HPO:0002313)
|
Spastic paraparesis |
|
|
11723206
|
IBIS
|
33 / 7739
|
47
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
20971365
|
IBIS
|
73 / 7739
|
48
|
(HPO:0000756)
|
Agoraphobia |
|
|
20971365
|
IBIS
|
4 / 7739
|
49
|
(HPO:0000735)
|
Impaired social interactions |
|
|
20971365
|
IBIS
|
20 / 7739
|
50
|
(HPO:0001324)
|
Muscle weakness |
|
|
12955819
|
IBIS
|
859 / 7739
|
51
|
(HPO:0000958)
|
Dry skin |
|
|
9870203
|
IBIS
|
152 / 7739
|
52
|
(HPO:0003487)
|
Babinski sign |
|
|
19862469
|
IBIS
|
179 / 7739
|
53
|
(HPO:0011448)
|
Ankle clonus |
|
|
19862469
|
IBIS
|
31 / 7739
|