Table 1.
Overview of the disease cohorts involved in the CRDC
| Department/Division | Disease cohort | Families with genomic data and consent for broad-use research | Median age of patient at enrollment (years)a | Percent that includes both parents (trio sequencing)a | Percent of probands with GSa | Average number of HPO termsa,b | Overall number of families with research genomic data |
|---|---|---|---|---|---|---|---|
| Neurology | Unexplained Epilepsies | 941 | 9.4 | 66% | 36% | 51 | 1166 |
| Cerebral Palsy and Related Disorders | 265 | 8.7 | 55% | 13% | 75 | 265 | |
| Hereditary Spastic Paraplegia and Movement Disorders | 68 | 10.0 | 71% | 93% | 84 | 68 | |
| Brain Malformations | 43 | 4.6 | 77% | 33% | 68 | 469 | |
| Cerebrovascular Disorders | 21 | 11.4 | 52% | 0% | 47 | 21 | |
| Agenesis of the Corpus Callosum | 0 | - | - | - | - | 24 | |
| Genetics and Genomics | Ultra-Rare Disease | 425 | 7.4 | 69% | 45% | 73 | 1235 |
| ADHD and Related Disorders | 339 | 10.3 | 72% | 7% | 46 | 339 | |
| Myopathies and Dystrophies | 57 | 10.6 | 83% | 22% | 64 | 456 | |
| Sudden Unexpected Death in Childhood (SUDP/SIDS) | 26 | 0.6 | 50% | 65% | - | 486 | |
| Cornelia de Lange Syndrome and Related Disorders | 7 | 10.5 | 43% | 0% | 103 | 7 | |
| Interstitial Cystitis | 0 | - | - | - | - | 354 | |
| Endocrinology | Idiopathic Short Stature | 91 | 9.3 | 56% | 2% | 56 | 91 |
| Connective Tissue Disorders | 45 | 15.6 | 31% | 20% | 85 | 45 | |
| Osteogenesis Imperfecta | 38 | 13.8 | 61% | 0% | 51 | 38 | |
| Disorders of Sex Development and Hypospadias | 33 | 3.7 | 48% | 3% | 43 | 169 | |
| Precocious Puberty | 28 | 9.5 | 25% | 0% | 43 | 28 | |
| Cancer and Blood Disorders | Anemias and Iron Disorders | 26 | 8.4 | 58% | 5% | 29 | 332 |
| Bone Marrow Failure and Leukemia Predisposition | 20 | 3.7 | 65% | 90% | 70 | 282 | |
| Schwamman Diamond Syndrome | 3 | - | 33% | 100% | 91 | 3 | |
| Sickle Cell Disease | 0 | - | - | - | - | 974 | |
| Gastrointestinal | Inflammatory Bowel Disease | 793 | 15.4 | 24% | 37% | 41 | 811 |
| Congenital Diarrheas and Enteropathies | 94 | 6.6 | 22% | 30% | 57 | 106 | |
| Intestinal Failure due to Malrotation and Volvulus | 13 | 6.3 | 62% | 100% | 40 | 13 | |
| Otorhinolaryngology | Hearing Loss | 451 | 7.2 | 53% | 13% | 43 | 451 |
| Hearing Loss and Cochlear Implants | 62 | 2.4 | 3% | 45% | 41 | 62 | |
| Peripheral Vestibular Disorders | 59 | 13.4 | 44% | 2% | 62 | 59 | |
| Immunology | Immunodeficiencies, Autoimmunity and Immune Dysregulation | 291 | 10.8 | 44% | 8% | 67 | 372 |
| Severe Pediatric COVID-19 and MIS-C | 132 | 8.3 | 1% | 80% | 55 | 150 | |
| Graves disease | 31 | 17.5 | 0% | 29% | 64 | 31 | |
| Pulmonology | Interstitial Lung Disease | 220 | 10.7 | 35% | 26% | 65 | 220 |
| Bronchiectasis | 148 | 20.7 | 11% | 37% | 64 | 148 | |
| Urology | Bladder Exstrophy-Epispadias Complex | 87 | 9.1 | 41% | 21% | 45 | 104 |
| Disorders of Voiding | 12 | 16.5 | 25% | 0% | 55 | 12 | |
| Nephrology | Nephrotic Syndrome and Glomerular Disease | 45 | 9.7 | 9% | 56% | 49 | 251 |
| Urinary Tract Stone Disease | 14 | 5.4 | 86% | 29% | 58 | 14 | |
| Psychiatry | Early-Onset Major Depression | 30 | 13.1 | 30% | 33% | 53 | 30 |
| Early-Onset Psychosis | 7 | 14.6 | 14% | 0% | 51 | 7 | |
| Ophthalmology | Infantile Esotropia | 24 | 5.0 | 71% | 21% | 36 | 24 |
| Infantile Nystagmus | 6 | 6.3 | 67% | 17% | - | 6 | |
| Newborn Medicine | Neonatal Critical Illness | 16 | 0.2 | 31% | 63% | 67 | 16 |
| Complex Fetal Cases | 11 | fetal | 91% | 27% | 37 | 11 | |
| Intersectional | Congenital Heart Disease and Autism Spectrum Disorder | 24 | 11.1 | 75% | 67% | 81 | 24 |
| Anesthesiology | Severe Chronic Pain and Insensitivity to Pain | 22 | 15.1 | 68% | 9% | 52 | 22 |
| Plastic and Oral Surgery | Ectodermal Dysplasia and Cleft Lip or Palate | 1 | - | 0% | 0% | 119 | 1 |
HPO human phenotype ontology, SUDP sudden unexpected death in pediatrics, SIDS sudden infant death syndrome, ADHD attention deficit/hyperactivity disorder, MIS-C multisystem inflammatory syndrome in children.
aData for families sequenced through the CRDC with broad-use research consent.
bIncluded HPO terms collected by researchers and extracted from the electronic health record with Clinithink.