|
1
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
57 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
25 / 7739
|
|
4
|
(HPO:0006817)
|
Aplasia/Hypoplasia of the cerebellar vermis |
Frequent [Orphanet]
typical [HPO]
|
|
|
|
15 / 7739
|
|
5
|
(HPO:0007360)
|
Aplasia/Hypoplasia of the cerebellum |
Frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0001992)
|
Organic aciduria |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0002121)
|
Absence seizures |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
9
|
(HPO:0002133)
|
Status epilepticus |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0011097)
|
Epileptic spasms |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
11
|
(HPO:0011147)
|
Typical absence seizures |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
12
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
hallmark [HPO]
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
16
|
(HPO:0000510)
|
Rod-cone dystrophy |
Occasional [Orphanet]
|
|
|
|
266 / 7739
|
|
17
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
18
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
Very frequent [Orphanet]
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [Orphanet]
|
|
|
|
853 / 7739
|
|
21
|
(HPO:0001270)
|
Motor delay |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
22
|
(HPO:0001328)
|
Specific learning disability |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
23
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
24
|
(HPO:0001257)
|
Spasticity |
Very frequent [Orphanet]
|
|
|
|
251 / 7739
|
|
25
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
26
|
(HPO:0002063)
|
Rigidity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
27
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
28
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
29
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
30
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
31
|
(HPO:0007598)
|
Bilateral single transverse palmar creases |
|
|
|
|
13 / 7739
|
|
32
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
33
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
34
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
|
|
160 / 7739
|
|
35
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
36
|
(HPO:0001682)
|
Subaortic stenosis |
|
|
|
|
17 / 7739
|
|
37
|
(HPO:0004381)
|
Supravalvular aortic stenosis |
|
|
|
|
6 / 7739
|
|
38
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
|
39
|
(HPO:0003344)
|
3-Methylglutaric aciduria |
|
|
|
|
6 / 7739
|
|
40
|
(HPO:0007033)
|
Cerebellar dysplasia |
|
|
|
|
13 / 7739
|
|
41
|
(HPO:0007703)
|
Abnormality of retinal pigmentation |
Occasional [Orphanet]
|
|
|
|
21 / 7739
|
|
42
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
43
|
(HPO:0200128)
|
Biventricular hypertrophy |
|
|
|
|
11 / 7739
|
|
44
|
(OMIM)
|
Cerebellar dysgenesis |
|
|
|
|
1 / 7739
|