PhenomeGene — Human Disease Gene Website SeriesSLC9A7

Clinical Characteristics

Male individuals with the SLC9A7-related variant (p.L515F) are characterized by moderate to severe intellectual disability, motor and speech delay, hypotonia (decreased muscle tone), proximal muscle weakness, variable deep tendon reflexes, and a finger - usually the little (pinky) finger - that curves to one side (bilateral clinodactyly).