Table 2.
Clinical features in 35 genetically confirmed cases of RCM type II
| Complications | Heterozygous | Homozygous | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Proband (termination–deletion) | Missense–Missense | Missense–deletion, termination, or splice site | Termination–Termination | Missense | Termination | Deletion | Splice site | Total | |
| General | |||||||||
| Complicated pregnancy | 100% (1/1) | 0% (0/2) | 42.86% (3/7) | 0% (0/1) | 0% (0/7) | 33.33% (1/3) | 0% (0/5) | 11.11% (1/9) | 17.14% (6/35) |
| DD/ID | 100% (1/1) | 50% (1/2) | 42.86% (3/7) | 100% (1/1) | 71.43% (5/7) | 100% (3/3) | 80% (4/5) | 7/9 | 71.43% (25/35) |
| FTT | 100% (1/1) | 0% (0/2) | 0% (0/7) | 100% (1/1) | 28.57% (2/7) | 0% (0/3) | 20% (1/5) | 22.22% (2/9) | 20% (7/35) |
| Short stature | 100% (1/1) | 0% (0/2) | 14.29% (1/7) | 100% (1/1) | 14.29% (1/7) | 0% (0/3) | 20% (1/5) | 0% (0/9) | 14.29% (5/35) |
| Cyanosis | 100% (1/1) | 100% (2/2) | 100% (7/7) | 100% (1/1) | 57.14% (4/7) | 0% (0/3) | 100% (5/5) | 55.55% (5/9) | 71.43% (25/35) |
| Gastrointestinal | |||||||||
| Feeding difficulty | 100% (1/1) | 100% (2/2) | 14.29% (1/7) | 100% (1/1) | 0% (0/7) | 0% (0/3) | 20% (1/5) | 33.33% (3/9) | 22.86% (8/35) |
| Feeding tube | 100% (1/1) | 50% (1/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 8.57% (3/35) |
| GI dysmotility | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 2.86% (1/35) |
| Musculoskeletal | |||||||||
| Hypotonia | 100% (1/1) | 50% (1/2) | 0% (0/7) | 0% (0/1) | 14.29% (1/7) | 0% (0/3) | 60% (3/5) | 44.44% (4/9) | 28.57% (10/35) |
| Hypertonia | 100% (1/1) | 50% (1/2) | 14.29% (1/7) | 100% (1/1) | 0% (0/7) | 33.33% (1/3) | 40% (2/5) | 11.11% (1/9) | 22.86% (8/35) |
| Scoliosis | 100% (1/1) | 50% (1/2) | 0% (0/7) | 100% (1/1) | 0% (0/7) | 0% (0/3) | 20% (1/5) | 0% (0/9) | 11.43% (4/35) |
| Torticollis | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 20% (1/5) | 0% (0/9) | 5.71% (2/35) |
| Decreased muscle mass | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 20% (1/5) | 0% (0/9) | 5.71% (2/35) |
| Jerking movements | 100% (1/1) | 50% (1/2) | 57.14% (4/7) | 100% (1/1) | 42.86% (3/7) | 66.66% (2/3) | 60% (3/5) | 77.77% (7/9) | 62.86% (22/35) |
| Quadriparesis/tetraparesis | 0% (0/2) | 42.86% (3/7) | 100% (1/1) | 14.29% (1/7) | 0% (0/3) | 20% (1/5) | 11.11% (1/9) | 20% (7/35) | |
| Ear, Nose, and Throat | |||||||||
| Reduced middle ear mobility | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 2.86% (1/35) |
| Neurologic | |||||||||
| Seizures | 100% (1/1) | 0% (0/2) | 0% (0/7) | 100% (1/1) | 14.29% (1/7) | 0% (0/3) | 0% (0/5) | 11.11% (1/9) | 11.43% (4/35) |
| Staring spells | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 2.86% (1/35) |
| Microcephaly | 100% (1/1) | 100% (2/2) | 57.14% (4/7) | 100% (1/1) | 57.14% (4/7) | 66.66% (2/3) | 60% (3/5) | 88.88% (8/9) | 71.43% (25/35) |
| Cerebellar/cerebral atrophy | 100% (1/1) | 0% (0/2) | 0% (0/7) | 100% (1/1) | 42.86% (3/7) | 33.33% (1/3) | 0% (0/5) | 22.2% (2/9) | 22.86% (8/35) |
| Enlarged ventricle | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 2.86% (1/35) |
| White matter loss | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 2.86% (1/35) |
| Delayed myelination | 100% (1/1) | 0% (0/2) | 14.29% (1/7) | 100% (1/1) | 57.14% (4/7) | 33.33% (1/3) | 0% (0/5) | 11.11% (1/9) | 21.71% (9/35) |
| Enlarged CSF or subarachnoid spaces | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 14.29% (1/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 5.71% (2/35) |
| Abnormal EEG | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 14.29% (1/7) | 0% (0/3) | 0% (0/5) | 11.11% (1/9) | 8.57% (3/35) |
| Diffuse brain atrophy | 0%(0/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 28.57% (2/7) | 33.33% (1/3) | 0% (0/5) | 11.11% (1/9) | 14.29% (5/35) |
| Corpus callosum abnormality | 0%(0/1) | 0% (0/2) | 14.29% (1/7) | 0% (0/1) | 14.29% (1/7) | 0% (0/3) | 0% (0/5)0 | 0% (0/9) | 5.71% (2/35) |
| General neurologic issue | 0%(0/1) | 0% (0/2) | 28.57% (2/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 60% (3/5 | 0% (0/9) | 14.29% (5/35) |
| Hypoplasia of basal ganglia | 0%(0/1) | 0% (0/2) | 0% (0/7) | 100% (1/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 2.86% (1/35) |
| Cortical atrophy | 0%(0/1) | 0% (0/2) | 14.29% (1/7) | 100% (1/1) | 0% (0/7) | 0% (0/3) | 20% (1/5) | 11.11% (1/9) | 11.43% (4/35) |
| Encephalopathy | 0%(0/1) | 0% (0/2) | 42.86% (3/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 8.57% (3/35) |
| Heart defect | 0%(0/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 20% (1/5) | 0% (0/9) | 2.86% (1/35) |
| Ophthalmology | |||||||||
| Delayed visual maturation | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 2.86% (1/35) |
| Cortical visual impairment | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 2.86% (1/35) |
| Hyperopic astigmatism | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 2.86% (1/35) |
| Strabismus | 0%(0/1) | 50% (1/2) | 14.29% (1/7) | 0% (0/1) | 28.57% (2/7) | 0% (0/3) | 20% (1/5) | 44.44% (4/9) | 21.71% (9/35) |
| Other diagnosis | 100% (1/1) | 0% (0/2) | 0% (0/7) | 0% (0/1) | 0% (0/7) | 0% (0/3) | 0% (0/5) | 0% (0/9) | 2.86% (1/35) |