Term Name:	hypotonia-cystinuria syndrome
Synonyms:	cystinuria with mitochondrial disease
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.
Ontology:	Human Disease [DOID:0060858]   ( DOID:0060858 )