Main clinical features
TELO2-related syndrome is a severe condition with a predominant neurological involvement. It is characterized by Developmental Delay/Intellectual Disability (DD/ID), balance disorder up to ataxia, and spasticity, microcephaly and facial anomalies, this letter non specific.
It is not a neurodegenerative disorder and most patients show an overall stability of the clinical features.
Prevalence
By now, less than 20 patients carrying TELO2 biallelic mutations have been described.
Prevalence cannot therefore be ascertained with precision, given the small number of patients and the relatively recent identification of the condition.
Inheritance
TELO2-related syndrome is an autosomal recessive disorder.
Most of the patients described so far carried compound heterozygous pathogenic variant, inherited by non consanguineous parents.
TELO2