hypotonia-cystinuria syndrome (DOID:0060858)
Alliance: disease page
Synonyms: cystinuria with mitochondrial disease
Alt IDs: OMIM:606407, ICD10CM:E72.0, MESH:C564710, ORDO:163690
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.