/hypotonia-cystinuria syndrome

hypotonia-cystinuria syndrome

Rare Disease

MONDO:0011669

Also Known As

HCScystinuria with mitochondrial diseasehypotonia-cystinuria syndromehypotonia-cystinuria syndrome type 1hypotonia-cystinuria type 1 syndromehomozygous 2P16 deletion syndromehomozygous 2P16 deletion syndrome, formerlyhomozygous 2P21 deletion syndrome

Definition

A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.