|
1
|
(HPO:0003298)
|
Spina bifida occulta |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0000268)
|
Dolichocephaly |
Very frequent [Orphanet]
|
|
|
|
144 / 7739
|
|
6
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
7
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
8
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
9
|
(HPO:0002967)
|
Cubitus valgus |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
10
|
(HPO:0002816)
|
Genu recurvatum |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
11
|
(HPO:0000256)
|
Macrocephaly |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
12
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
13
|
(HPO:0002208)
|
Coarse hair |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
14
|
(HPO:0003100)
|
Slender long bone |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
15
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
16
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
17
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
18
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
19
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
22
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
23
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
24
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
25
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
26
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
27
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
28
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
29
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
30
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
31
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
32
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
33
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
34
|
(OMIM)
|
Mild palpebral ptosis |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
36
|
(OMIM)
|
Abundant hair |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Rough hair |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
39
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
41
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
42
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
43
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
44
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|