TELO2-related intellectual disability-neurodevelopmental disorder

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TELO2-related intellectual disability-neurodevelopmental disorder

Synonyms: You-Hoover-Fong syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability infantile hypotonia microcephaly movement disorder and impaired balance. More variable manifestations are hearing loss cortical visual impairment abnormalities of fingers and/or toes congenital cardiac anomalies kyphoscoliosis dysmorphic facial features abnormal sleep pattern and seizures among others.

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 Data version April 2024

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