C18orf32

Clinical Characteristics

Individuals with GPIBD25 generally have delays in development (development milestones missing), hypotonia (floppiness caused by poor muscle tone), and contractures (shortening of tendons, muscles and other tissues surrounding joints), leading to deformity and rigidity of joints. They also have other symptoms including small height, inverted nipples, sparse and rough hair, slow and random eye movements, and respiratory difficulties.