Version: 8.0.0
Date: Tue Jan 28 2025
hypotonia-cystinuria syndrome
DOID:0060858
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

hypotonia-cystinuria syndrome

Definition
A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
Synonyms
  • cystinuria with mitochondrial disease
Cross References
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None
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