TELO2-Related Intellectual Disability (You-Hoover-Fong Syndrome)
Autoszomális recesszív
Caused by changes in both copies of TELO2, the telomere maintenance 2 gene. Only a small number of families have been reported.
Tünetek és jelek
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.
Mit változtat a diagnózis
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.
Vizsgált gének
Más néven
YHFS; you-Hoover-Fong syndrome
