Autoszomális domináns
A disorder caused by loss of one working copy of SOX5, through a 12p12 deletion removing all or part of the gene or a sequence variant within it. Most cases arise de novo.
Tünetek és jelek
Developmental delay with prominent speech and language delay, and mild to moderate intellectual disability in most. Behavioural differences, including autism and hyperactivity, are common, as are low muscle tone, strabismus and mild facial differences. Less often there is optic atrophy, scoliosis, short stature or seizures.
Mit változtat a diagnózis
Developmental, speech and educational support, with eye, spine and behavioural assessment; seizures, when they occur, usually respond well to treatment. Most cases arise de novo, but a parent can carry the change, sometimes in only some of their cells, so genetic counselling and parental testing guide recurrence risk even when a variant appears new.
Vizsgált gének
Más néven
Lamb-Shaffer syndrome; LAMSHF; LAMSHF
