Table 1.
Clinical summary of patients with SNUPN pathogenic variants
| Clinical synopsis | HPO terms | Ratio | Percentage |
|---|---|---|---|
| Female patient | 8/18 | 44% | |
| Male patient | 10/18 | 56% | |
| Consanguinity | 4/18 | 22% | |
| Onset before ambulation | 12/18 | 67% | |
| Deceased | 2/18 | 12% | |
| Muscular phenotypes | |||
| Proximal upper limb weakness | HP:0008997 | 18/18 | 100% |
| Distal upper limb weakness | HP:0008959 | 12/16 | 75% |
| Proximal lower limbs weakness | HP:0008994 | 18/18 | 100% |
| Distal lower limb weakness | HP:0009053 | 16/18 | 89% |
| Axial weakness | HP:0003327 | 16/18 | 89% |
| Non-ambulatory (on last examination) | HP:0002540 | 11/18 | 61% |
| CK high (>500) | HP:0030234 | 16/17 | 94% |
| Myopathy (EMG) | HP:0003198 | 11/11 | 100% |
| Muscular histology | |||
| Abnormal muscle fiber | HP:0004303 | 10/10 | 100% |
| Endomysial fibrosis | HP:0100297 | 9/9 | 100% |
| Neurological defects | |||
| Cerebellar atrophy | HP:0001272 | 5/9 | 56% |
| Thin corpus callosum | HP:0200012 | 3/7 | 43% |
| Other features | |||
| Cataract | HP:0000518 | 6/18 | 33% |
| Respiratory insufficiency | HP:0002093 | 11/18 | 61% |
| Abnormal vertebral column | HP:0000925 | 12/16 | 75% |
| Limb joint contracture | HP:0003121 | 14/18 | 78% |
CK creatinine kinase, EMG electromyography, HPO Human Phenotype Ontology.