Hypotonia-cystinuria syndrome
Hypotonia-cystinuria 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.
Also known as cystinuria with mitochondrial disease, HCS, hypotonia-cystinuria syndrome, hypotonia-cystinuria syndrome type 1, hypotonia-cystinuria type 1 syndrome — per MONDO