Fragile X syndrome (FXS) is characterized by moderately to severely impaired intellectual development, macroorchidism, and distinct facial features, including ...

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: newly described fronto-subcortical dementia.

Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and ...

Onset in fifties or sixties - Caused by 55-200 expanded trinucleotide repeats in the FMR1 gene (309550) referred to as a 'premutation'

A rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical ...

Onset in fifties or sixties - Caused by 55-200 expanded trinucleotide repeats in the FMR1 gene (309550) referred to as a 'premutation'

From OMIM Fragile X syndrome (FXS) is characterized by moderately to severely impaired intellectual development, macroorchidism, and distinct facial features, ...

Martin-Probst syndrome (MRXSMP) is characterized by congenital sensorineural hearing loss, mild to severe cognitive impairment, short stature, ...

Fragile X syndrome (300624) is directly associated with the FMR1 gene (309550) at Xq27.3. FMR1 is an RNA-binding protein, and mutations in the gene are ...