Study on the application of whole exon sequencing in the diagnosis of genetic diseases in children

Status

Active, not recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2000034358

Enrollment

Unknown

Registered

2020-07-03

Start date

2020-07-01

Completion date

Unknown

Last updated

2020-07-06

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

genetic diseases in children

Interventions

Nervous system malformation, skeletal malformation, digestive system malformation, cardiovascular system, urinary system, craniofacial malformation and control group:Nil

Eligibility

Sex/Gender

All

Age

No minimum to 18 Years

Inclusion criteria

Inclusion criteria: 1. Patients with mental retardation / growth retardation; 2. Patients with abnormal facial features; 3. Patients with surface or visceral abnormalities, such as congenital heart disease; 4. Patients with informed consent.

Exclusion criteria

Exclusion criteria: 1. Patients with birth injury, central nervous system infection or head injury after birth; 2. Patients with other known genetic syndromes (such as trisomy 21, etc.) and common genetic and metabolic diseases; 3. And those who do not agree to carry out genetic testing and lost follow-up.

Design outcomes

Primary

Measure	Time frame
WES;	—

Countries

China

Contacts

Public ContactHe Xuelian

Wuhan children's Hospital

hexuelian2013@hotmail.com+86 18971455713

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026