Table 5.
Frequency of Phenotype Subcategories for CES Testing
| Phenotype subcategory | Value, n (%) |
|---|---|
| CNS involvement | 446 (63.7) |
| Developmental delay | 329 (54.4) |
| Neuromuscular/musculoskeletal | 322 (46.0) |
| Structural birth defect(s) | 236 (33.7) |
| Growth abnormality | 210 (30.0) |
| Craniofacial involvement/dysmorphic features | 209 (29.9) |
| Abnormal muscle tone | 172 (24.6) |
| Gastrointestinal | 155 (22.1) |
| Skeletal | 123 (17.6) |
| Seizures | 119 (17.0) |
| Abnormal brain MRI | 115 (16.4) |
| Cardiovascular | 108 (15.4) |
| Ophthalmologic | 104 (14.9) |
| Audiologic/otolaryngolic | 83 (11.9) |
| Respiratory/pulmonary | 82 (11.7) |
| Microcephaly | 80 (11.4) |
| Immunodeficiency (rare and/or recurrent infections) | 78 (11.1) |
| Neurologic movement disorder (ataxia/spasticity, tremor, dystonia, parkinsonism, or myoclonus) | 69 (9.9) |
| Autism spectrum disorder | 66 (9.4) |
| Endocrine | 63 (9.0) |
| Connective tissue | 59 (8.4) |
| Hematological/vascular | 58 (8.3) |
| Genitourinary | 49 (7.0) |
| Renal | 47 (6.7) |
| Integumentary (includes hair, skin, and nails) | 42 (6.0) |
| Syndromic intellectual disability | 42 (6.0) |
| Metabolic/biochemical | 39 (5.6) |
| Macrocephaly | 35 (5.0) |
| Autoimmune disease | 34 (4.9) |
| Muscular dystrophy and/or myopathy | 32 (4.6) |
| Liver | 31 (4.4) |
| Joint contracture/arthrogryposis multiplex congenita | 23 (3.3) |
| Oncologic | 16 (2.3) |
| Neuropathy | 15 (2.1) |
| Allergies | 15 (2.1) |
| Abnormality of spinal cord/neural tube | 13 (1.9) |
| Nonsyndromic intellectual disability | 11 (1.6) |
| Obstetric | 11 (1.6) |
| Dental | 6 (0.9) |
Individual clinical features were listed in 39 subcategories. Each patient was assigned to one or more subcategories.
CES, clinical exome sequencing; CNS, central nervous system; MRI, magnetic resonance imaging.