|
1
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
2
|
(HPO:0001308)
|
Tongue fasciculations |
|
|
|
|
18 / 7739
|
|
3
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
4
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
5
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
6
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
7
|
(OMIM)
|
Congenital cardiac malformations have been rarely reported in severe cases |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Muscle weakness, proximal, symmetric (lower limbs more affected than upper limbs) due to motor neuronopathy |
|
|
|
|
5 / 7739
|
|
9
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
10
|
(OMIM)
|
Affected children are unable to sit without support |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Facial muscle sparing |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Normal motor conduction studies (initially) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
EMG shows neurogenic abnormalities |
|
|
|
|
8 / 7739
|
|
14
|
(OMIM)
|
Loss of lower alpha-motor neurons in the anterior horn of the spinal cord and lower brainstem |
|
|
|
|
1 / 7739
|