Hypotonia-cystinuria type 1

Тодорхойлолт

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).

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