AHA Coding Clinic® for ICD-10-CM and ICD-10-PCS - 2025 Issue 4; New/Revised ICD-10-CM Codes

CTNNB1 Syndrome

Code Q87.88, CTNNB1 syndrome, has been created to identify CTNNB1 syndrome. CTNNB1 syndrome, also known as CTNNB1 neurodevelopmental disorder, is a rare, severe disorder caused by mutations of the beta-catenin (CTNNB1) gene that is located at the 3q 22.1 chromosomal region. The mutations lead to a wide range of developmental and neurological impairments, including intellectual disability, developmental delays, speech problems, and behavioral issues. Other common features of this syndrome include microcephaly, vision problems, hypotonia and hypertonia. CTNNB1 syndrome is noted for being the most frequent, recurrent monogenic cause of cerebral palsy. Currently, there is no cure for...

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