hypotonia-cystinuria syndrome

A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria ty

A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.

Signs and symptoms

• Cystinuria
• Failure to thrive
• Feeding difficulties in infancy
• Postnatal growth retardation
• Axial hypotonia
• Ragged-red muscle fibers
• Delayed ability to walk
• Global developmental delay
• Cystine crystalluria
• Weak cry

Also known as: cystinuria with mitochondrial disease