TELO2-Related Intellectual Disability (You-Hoover-Fong Syndrome)
Autozomálně recesivní
Caused by changes in both copies of TELO2, the telomere maintenance 2 gene. Only a small number of families have been reported.
Příznaky a projevy
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.
Co se diagnózou změní
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.
Analyzované geny
Známé také jako
YHFS; you-Hoover-Fong syndrome
