|
1
|
(HPO:0001249)
|
Intellectual disability |
Frequent [IBIS]
|
76% (n=17)
|
18980795
|
IBIS
|
1089 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
Frequent [IBIS]
|
71% (n=17)
|
18980795
|
IBIS
|
539 / 7739
|
|
3
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
Frequent [IBIS]
|
35% (n=17)
|
18980795
|
IBIS
|
254 / 7739
|
|
4
|
(HPO:0001014)
|
Angiokeratoma |
Occasional [IBIS]
|
24% (n=17)
|
18980795
|
IBIS
|
5 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
Rare [HPO:probinson]
Occasional [IBIS]
|
19% (n=21)
|
23588843
|
IBIS
|
1245 / 7739
|
|
6
|
(HPO:0007108)
|
Demyelinating peripheral neuropathy |
Rare [HPO:probinson]
Rare [IBIS]
|
6% (n=17)
|
18980795
|
IBIS
|
8 / 7739
|
|
7
|
(HPO:0200134)
|
Epileptic encephalopathy |
Rare [IBIS]
|
6% (n=17)
|
18980795
|
IBIS
|
42 / 7739
|
|
8
|
(HPO:0001999)
|
Abnormal facial shape |
Very frequent [Orphanet]
Occasional [HPO:probinson]
|
|
10571005
|
IBIS
|
169 / 7739
|
|
9
|
(HPO:0000503)
|
Tortuosity of conjunctival vessels |
|
|
3762648
|
IBIS
|
3 / 7739
|
|
10
|
(HPO:0000718)
|
Aggressive behavior |
|
|
18980795
|
IBIS
|
109 / 7739
|
|
11
|
(HPO:0000752)
|
Hyperactivity |
|
|
18980795
|
IBIS
|
140 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
10571005
|
IBIS
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
18980795
|
IBIS
|
859 / 7739
|
|
14
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
23588843
|
IBIS
|
328 / 7739
|
|
15
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
10571005
|
IBIS
|
308 / 7739
|
|
16
|
(HPO:0012066)
|
Increased urinary disaccharide excretion |
|
|
23588843
|
IBIS
|
2 / 7739
|
|
17
|
(OMIM)
|
Cytoplasmic vacuolization |
|
|
17420068
|
IBIS
|
1 / 7739
|
|
18
|
(OMIM)
|
Gilles de la Tourette syndrome (reported in 1 patient) |
|
|
16401745
|
IBIS
|
1 / 7739
|
|
19
|
(HPO:0002719)
|
Recurrent infections |
|
|
22369051
|
IBIS
|
107 / 7739
|
|
20
|
(OMIM)
|
Decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes |
|
|
19728872
|
IBIS
|
1 / 7739
|
|
21
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
18980795
|
IBIS
|
949 / 7739
|
|
22
|
(HPO:0001334)
|
Communicating hydrocephalus |
|
|
23588843
|
IBIS
|
32 / 7739
|
|
23
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
23588843
|
IBIS
|
96 / 7739
|
|
24
|
(HPO:0001601)
|
Laryngomalacia |
|
|
23588843
|
IBIS
|
61 / 7739
|
|
25
|
(HPO:0010307)
|
Stridor |
|
|
23588843
|
IBIS
|
19 / 7739
|
|
26
|
(HPO:0002015)
|
Dysphagia |
|
|
23588843
|
IBIS
|
301 / 7739
|
|
27
|
(HPO:0002317)
|
Unsteady gait |
|
|
18980795
|
IBIS
|
45 / 7739
|
|
28
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
18980795
|
IBIS
|
61 / 7739
|
|
29
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
18980795
|
IBIS
|
29 / 7739
|
|
30
|
(HPO:0003487)
|
Babinski sign |
|
|
18980795
|
IBIS
|
179 / 7739
|
|
31
|
(HPO:0001251)
|
Ataxia |
|
|
18980795
|
IBIS
|
413 / 7739
|
|
32
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
18980795
|
IBIS
|
171 / 7739
|
|
33
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
18980795
|
IBIS
|
187 / 7739
|
|
34
|
(HPO:0012157)
|
Subcortical cerebral atrophy |
|
|
18980795
|
IBIS
|
3 / 7739
|
|
35
|
(HPO:0001260)
|
Dysarthria |
|
|
18980795
|
IBIS
|
329 / 7739
|
|
36
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
18980795
|
IBIS
|
54 / 7739
|
|
37
|
(HPO:0003393)
|
Thenar muscle atrophy |
|
|
8285582
|
IBIS
|
10 / 7739
|