SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

Findings

No curated finding names SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• autosomal dominant syndromic intellectual disability
• SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth