|OBO ID: DOID:0060858|
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|Term Name:||hypotonia-cystinuria syndrome||Search Ontology:|
|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. (4)|
|Ontology:||Human Disease (DOID:0060858)|
|is a type of:||