OBO ID: DOID:0060858 |
Term Name: | hypotonia-cystinuria syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0060858 ) |
OTHER hypotonia-cystinuria syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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