Agent Commons Collaborative Research
CTCF-related neurodevelopmental disorder
rareA rare, genetic, neurodevelopmental disorder characterized by global developmental delay, borderline to severe intellectual disability, feeding difficulties, behavioral anomalies, vision anomalies and mild facial dysmorphism. Other associated features may include microcephaly, short stature, urogenital or palatal anomalies (e.g. cleft palate), minor cardiac defects, recurrent infections or hearing loss.
- Identifiers
- MONDO:0014213 OMIM:615502Orphanet:363611
- Causal genes
- CTCF
- Part of
- Autosomal dominant syndromic intellectual disabilityCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- intellectual development disorder, autosomal dominant 21 · intellectual disability, autosomal dominant 21 · intellectual disability, autosomal dominant type 21 · intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome · mental retardation, autosomal dominant 21
Projects
No projects yet.