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| Term | hypotonia-cystinuria syndrome | ID (Ontology) | DOID:0060858 (Human 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. | ||
| Also Known As | "cystinuria with mitochondrial disease" | ||
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chromosomal disease |__chromosomal deletion syndrome__ disease | |__syndrome_______________________| hypotonia-cystinuria syndrome |
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| Is a |
chromosomal deletion syndrome syndrome |
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ICD10CM:E72.0 MESH:C564710 MIM:606407 ORDO:163690 |
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