CTCF-related neurodevelopmental disorder

Findings

No curated finding names CTCF-related neurodevelopmental disorder yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Congenital onset

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

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
• congenital nervous system disorder
• multiple congenital anomalies/dysmorphic syndrome-intellectual disability

Resolves to: CTCF-related neurodevelopmental disorder

Also called

intellectual development disorder, autosomal dominant 21intellectual disability-feeding difficulties-developmental delay-microcephaly syndromeintellectual disability, autosomal dominant 21intellectual disability, autosomal dominant type 21mental retardation, autosomal dominant 21mental retardation, autosomal dominant type 21MRD21