hypotonia-cystinuria syndrome Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/606407
Similar Terms
Downloads & Tools


1 genes associated with the hypotonia-cystinuria syndrome phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
DEL2P21 Hypotonia-cystinuria syndrome