Table 1 Clinical features and disease inheritance.
From: Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing
Proband’s phenotype | Number of probands | |
|---|---|---|
Number of probands | With pathogenic variants (%) | |
Brain malformation | 263 | 144 (54.8) |
Seizure | 58 | 44 (75.9) |
Abnormal myelination | 42 | 31 (73.8) |
Neurodevelopmental delay | 39 | 20 (51.3) |
Involuntary movements | 15 | 9 (60.0) |
Ataxia | 6 | 6 (100) |
Neuromuscular disease | 9 | 6 (66.7) |
Spastic paraplegia | 8 | 5 (62.5) |
Metabolic | 4 | 2 (50.0) |
Others | 19 | 3 (15.8) |
Total | 463 | 270 |
Disease inheritance | ||
Autosomal dominant | 167 (59.6) | |
Autosomal recessive | 40 (14.3) | |
X-linked dominant | 22 (7.9) | |
X-linked recessive | 9 (3.2) | |
X-linked (dominant or recessive) | 2 (0.7) | |
Chromosomal micro deletion/duplication | 28 (10.0) | |
Not Confirmed | 12 (4.3) | |
Total | 280 | |
