|Dataset||OMIM Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Hypotonia-Cystinuria syndrome (HCS) is a rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (Orphanet Rare Disease Ontology, Orphanet_163690)|
|Downloads & Tools|
1 genes associated with the hypotonia-cystinuria syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.