|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
3
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
4
|
(HPO:0000764)
|
Peripheral axonal degeneration |
|
|
|
|
6 / 7739
|
|
5
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
6
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
9
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
10
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
|
12
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
13
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
14
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
15
|
(HPO:0002398)
|
Degeneration of anterior horn cells |
|
|
|
|
14 / 7739
|
|
16
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
17
|
(HPO:0002789)
|
Tachypnea |
|
|
|
|
48 / 7739
|
|
18
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
19
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
20
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
21
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
22
|
(HPO:0005348)
|
Inspiratory stridor |
|
|
|
|
8 / 7739
|
|
23
|
(HPO:0005946)
|
Ventilator dependence with inability to wean |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0006597)
|
Diaphragmatic paralysis |
|
|
|
|
16 / 7739
|
|
25
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
|
26
|
(HPO:0009109)
|
Denervation of the diaphragm |
|
|
|
|
2 / 7739
|
|
27
|
(HPO:0009110)
|
Diaphragmatic eventration |
|
|
|
|
8 / 7739
|
|
28
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|