Human genes for hypotonia-cystinuria syndrome
Hypotonia-cystinuria syndrome [DOID:0060858]
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: hypotonia-cystinuria syndrome, DOID:0060858, hypotoniacystinuria syndrome, hypotonia-cystinuria disease, hypotonia-cystinuria disorder ...