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Table 1 Clinical parameters of included cases

From: From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability

Clinical Cohort 1 (n = 68) Cohort 2 (n = 156) Cohort 3 (n = 100)
Gender (F/M) 44%/56% 44%/50%* 37%/63%
Main phenotype
 NDD 21 (31%) 2 (1%) 40 (40%)
 NDD+ 13 (19%) 0 38 (38%)
 Syndrome 20 (29%) 53 (34%) 8 (8%)
 Growth abnormality 5 (7%) 0 4 (4%)
 Metabolic crisis 0 0 3 (3%)
 Endocrine abnormality 2 (3%) 0 1 (1%)
 Internal malformations 1 (1%) 0 2 (2%)
 Neuromuscular abnormality 1 (1%) 32 (21%) 2 (2%)
 CTD 0 28 (18%) 0
 Hereditary cancer 3 (4%) 33 (21%) 0
 Other** 2 (3%) 8 (5%) 2 (2%)
  1. F female, M male, NDD neurodevelopmental disorder, NDD+ syndromic NDD, CTD connective tissue disorder. *6% no gender information (fetal sample or disorder of sex development). **Epilepsy, disorder of sex development, eye disorder, immunological disorder, and skin disease