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Another recently reported example describes the identification of an X-linked synapsin ( SYN1) mutation in a family with epilepsy where some of the affected males have normal intelligence, whereas others have various combinations of epilepsy, learning difficulty, macrocephaly and aggressive behaviour (). Schetchik energomera se 301 instrukciya. As many different deafness genes are known, it is only when the rare phenotypic component is observed in a family the correct causative gene will be considered. SYNDROMES WITH SOME INCOMPLETELY PENETRANT COMPONENTS Some mutations lead to complex phenotypes with multiple components some of which are fully penetrant, for example deafness associated with GATA3 loss-of-function mutations, whereas other aspects such as overt parathyroid disease is observed only in some mutation carriers, although measurable hypocalcaemia is often present, and cryptic renal abnormalities may also be found ().

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