Hypotonia-cystinuria syndrome

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.

Also known as: HCS, cystinuria with mitochondrial disease, hypotonia-cystinuria syndrome, hypotonia-cystinuria syndrome type 1, hypotonia-cystinuria type 1 syndrome, homozygous 2P16 deletion syndrome, homozygous 2P16 deletion syndrome, formerly, homozygous 2P21 deletion syndrome

42 clinical trials for this condition and its sub-types.