However, some peculiar phenotypic aspects may point toward a specific genetic defect, such as episodic apneas (CHAT, RAPSN), tongue atrophy and stridor and vocal cord paralysis in neonates or infants (DOK7), congenital contractures (RAPSN, AChR δ or γ subunit, CHAT), limb-girdle and axial distribution of weakness (DOK7, GFPT1, DPAGT1, ALG2, ALG14), facial dysmorphism (SYB1, RAPSN, SCN4A, COLQ), seizures or ID (DPAGT1). The gene discussed is RAPSN; the disease is Atrophy.