Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
3
 (HPO:0000268) Dolichocephaly Frequent [Orphanet] 144 / 7739
4
 (HPO:0005989) Redundant neck skin Occasional [Orphanet] 40 / 7739
5
 (HPO:0000445) Wide nose Frequent [Orphanet] 190 / 7739
6
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
7
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
8
 (HPO:0000028) Cryptorchidism 347 / 7739
9
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
10
 (HPO:0002808) Kyphosis Frequent [Orphanet] 289 / 7739
11
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
12
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
13
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
14
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
15
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
16
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
17
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
18
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
19
 (HPO:0000194) Open mouth Occasional [Orphanet] 70 / 7739
20
 (HPO:0009623) Proximal placement of thumb Frequent [Orphanet] 50 / 7739
21
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
22
 (HPO:0000023) Inguinal hernia 181 / 7739
23
 (HPO:0000047) Hypospadias 250 / 7739
24
 (HPO:0001231) Abnormality of the fingernails Occasional [Orphanet] 116 / 7739
25
 (HPO:0001284) Areflexia 198 / 7739
26
 (HPO:0001308) Tongue fasciculations 18 / 7739
27
 (HPO:0001558) Decreased fetal movement 74 / 7739
28
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
29
 (HPO:0002058) Myopathic facies 26 / 7739
30
 (HPO:0002398) Degeneration of anterior horn cells 14 / 7739
31
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
32
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
33
 (HPO:0002828) Multiple joint contractures 16 / 7739
34
 (HPO:0003198) Myopathy 151 / 7739
35
 (HPO:0004404) Abnormality of the nipple Occasional [Orphanet] 54 / 7739
36
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
37
 (HPO:0010628) Facial palsy 146 / 7739
38
 (OMIM) Chest deformities 2 / 7739
39
 (OMIM) Bone fractures (at birth and postnatal) 1 / 7739
40
 (OMIM) Dysmorphic skull 1 / 7739
41
 (OMIM) Digital contractures 2 / 7739
42
 (OMIM) Muscle biopsy shows neurogenic atrophy affecting both fibers types 1 / 7739
43
 (OMIM) Denervation of skeletal muscles 1 / 7739
44
 (OMIM) Loss of anterior horn cells 2 / 7739
45
 (HPO:0001172) Abnormality of the thumb Frequent [Orphanet] 103 / 7739
46
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
47
 (HPO:0200040) Epidermoid cyst Occasional [Orphanet] 35 / 7739
48
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
49
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
50
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
51
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
52
 (HPO:0000347) Micrognathia 426 / 7739
53
 (HPO:0001419) X-linked recessive inheritance 189 / 7739
54
 (HPO:0007269) Spinal muscular atrophy 24 / 7739