_:vb50939514 . _:vb50939510 . _:vb50939511 . "ORDO:163690"^^ . _:vb50939512 . . _:vb50939510 _:vb50939514 . "hypotonia-cystinuria syndrome"@en . _:vb50939514 _:vb50939513 . "DOID:0060858"^^ . . _:vb50939511 . "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."^^ . _:vb50939511 . _:vb50939512 . . "OMIM:606407"^^ . _:vb50939510 . . "disease_ontology"^^ . "cystinuria with mitochondrial disease"@en . _:vb50939513 . _:vb50939510 . _:vb50939513 . _:vb50939512 . _:vb50939511 . _:vb50939514 _:vb50939511 . _:vb50939513 _:vb50939512 . "ICD10CM:E72.0"^^ . _:vb50939512 .