sing next generation sequencing to find causative genes in patients with severe microcephaly

Completed

• Conditions: microcephaly; small head size; 10029299

• Registration Number: NL-OMON35505
• Lead Sponsor: niversitair Medisch Centrum Groningen

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 6 May 2024

Recruitment & Eligibility

• Status: Completed
• Sex: Not specified
• Target Recruitment: 750

Inclusion Criteria

A head circumference below -3 SD at birth or below -4 SD at other ages

Exclusion Criteria

Causative chromosomal abnormality identified by array CGH

Study & Design

• Study Type: Observational invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Number of pathogenic mutations in known genes and newly identified genes<br /><br>causing severe microcephaly</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Estimated increase in diagnostic yield and speed compared to currently used<br /><br>diagnostic evaluations and sequential genetic testing in patients with severe<br /><br>microcephaly. </p><br>