The spectrum, clinical pathogenicity and prenatal risk factor of de nono mutation in children with neurodevelopmental disorders

Status

Recruiting

Phases

Early Phase 1

Study type

Observational

Source

ChiCTR

Registry ID

ChiCTR2000038132

Enrollment

Unknown

Registered

2020-09-11

Start date

2020-10-01

Completion date

Unknown

Last updated

2020-11-30

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

Conditions

Neurodevelopmental disorders

Interventions

DNM Group:Nil

DNM Free Group:Nil

Eligibility

Sex/Gender

Male

Age

No minimum to 6 Years

Inclusion criteria

Inclusion criteria: 1. Children with ASD and ID / DD 5 years old); 2. Patients with normal blood and urine metabolism screening; 3. Exclude those with multiple system malformations; 4. Subjects with normal chromosome and genome-wide CNV screening.

Exclusion criteria

Exclusion criteria: 1. Patients with this disease due to high fever, brain infection / injury / surgery; 2. Patients with metabolic diseases indicated by hematuria metabolism screening; 3. Patients with ASD or ID who have been diagnosed with previous genetic diagnosis (chromosomal disease, genomic disease, genetic metabolic disease, mitochondrial disease, panel sequencing has a clear pathogenic gene); 4. Patients with simple convulsion / epilepsy / ADHD.

Design outcomes

Primary

Measure	Time frame
Single nucleotide mutation;	—

Countries

China

Contacts

Public ContactChen Xiaoli

Capital Institute of Pediatrics

cxlwx@sina.com+86 15901577682

Outcome results

None listed

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