TELO2-Related Intellectual Disability (You-Hoover-Fong Syndrome)
Autosomal recessive
Caused by changes in both copies of TELO2, the telomere maintenance 2 gene. Only a small number of families have been reported.
Signs and symptoms
Global developmental delay and intellectual disability with microcephaly and short stature. Movement problems, such as unsteadiness or abnormal movements, have been reported. Less often there are seizures, sleep disturbance, or vision and hearing problems.
What a diagnosis changes
Developmental, educational and therapy support, with neurological, growth, eye and hearing assessment. Both parents of an affected child are usually carriers, and genetic counselling and carrier testing of relatives are available.
Genes analysed
Also known as
YHFS; you-Hoover-Fong syndrome
