CTCF-related disorder (CRD) is a clinically heterogeneous neurodevelopmental disorder caused by monoallelic pathogenic variants in CTCF. Clinical presentation is highly variable. Please refer to Gene Review for additional information on frequency of described characteristics as this information is subject to change as more cases are diagnosed. The following features have been reported with varying frequency (listed from most to least frequent):
• Global developmental delay
• Intellectual disability
• Feeding difficulties
• Growth problems
• Eye anomalies
• Musculoskeletal anomalies
• Behavioural issues
• Hypotonia
• Tooth anomalies
• Sleep disturbance
• Gastrointestinal issues
• Autism Spectrum Disorder (ASD) or autistic features
• Low weight
• Microcephaly
• Recurrent infections
• Palatal anomalies
• Genitourinary anomalies
• Hearing loss
• Short stature
• Congenital heart defects
• Seizures
CTCF