GB90.40
Hypotonia-cystinuria type 1
Hipotonia-cistinúria tipo 1
CategoryDefinition
This is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1, nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism due to a homozygous deletion of two contiguous genes on chromosome 2: SLC3A1 and PREP (2p21).
Index Terms
Hypotonia-cystinuria type 1Atypical hypotonia-cystinuria syndromeAtypical HCS - [hypotonia-cystinuria syndrome]