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GB90.40 Hypotonia-cystinuria type 1

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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).

code elsewhere

• Hypotonia-cystinuria syndrome  (5C60.Y)

synonyms

• Hypotonia-cystinuria type 1
• Atypical hypotonia-cystinuria syndrome
• Atypical HCS - [hypotonia-cystinuria syndrome]

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