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 dysmorphi...
Comprehensive, easy-to-understand information about this condition
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Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 4 companies have orphan drug designations for this disease
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