CTCF-related neurodevelopmental disorder

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CTCF-related neurodevelopmental disorder

A 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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CTCF-related neurodevelopmental disorder?

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